X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects
Open accessAbstract
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults. About 65% of heterozygote females develop symptoms by the age of 60years. Mutations in the ABCD1 gene affect the function of the encoded protein ALDP, an ATP-binding-cassette (ABC) transporter located in the peroxisomal membrane protein. ALDP deficiency impairs the peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) and facilitates their further chain elongation by ELOVL1 resulting in accumulation of VLCFA in plasma and tissues. While all patients have mutations in the ABCD1 gene, there is no general genotype-phenotype correlation. Environmental factors and a multitude of modifying genes appear to determine the clinical manifestation in this monogenetic but multifactorial disease. This review focuses on the clinical, biochemical, genetic and pathophysiological aspects of X-ALD.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
0 of 80 cited sources checked · 0 supported · 0 flagged
- Findingcitation
A SNP has been identified in the promoter region of the ELOVL1 gene.
“Interestingly, a SNP has been identified in the promoter region of the ELOVL1 (Kemp and Aubourg, unpublished observations).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Kemp and Aubourg, unpublished observations
Not checked in the free run.
- Premisecitation
The real incidence of AMN in heterozygous women is likely to be close to 65% by the age of 60 years.
“the real incidence of AMN in heterozygous women is likely to be close to 65% by the age of 60 years (Engelen et al., manuscript in preparation).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Engelen et al., manuscript in preparation
Not checked in the free run.
- Premisenone given
About 10% of boys with cerebral ALD may not enter into the active inflammatory and devastating stage of the disease.
“About 10% of boys with cerebral ALD may not enter into the active inflammatory and devastating stage of the disease.”
Quote in the paperNot a substantial claim - Premisecitation
VLCFA (in particular C26:0) are elevated in readily accessible materials like blood cells and plasma of X-ALD patients.
“The discovery by Moser and coworkers that VLCFA (in particular C26:0) are also elevated in readily accessible materials like blood cells and plasma of X-ALD patients has been of crucial importance for the diagnosis of X-ALD [24].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [24] 24. H.W. Moser, A.B. Moser, K.K. Frayer, W. Chen, J.D. Schulman, B.P. O'Neill, Y. Kishimoto, Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids, Neurology 31 (1981) 1241-1249. source
Not checked in the free run.
- Premisenone given
A newborn male with an ABCD1 gene mutation has a 35-40% risk to develop cerebral ALD between the ages of 5 and 12 years.
“A newborn male with an ABCD1 gene mutation has a 35-40% risk to develop cerebral ALD between the ages of 5 and 12 years.”
Quote in the paperNot a substantial claim
- Premisecitation
VLCFA accumulate in morphological normal brain indicating that the biochemical abnormality precedes histopathological changes.
“Reinecke and coworkers combined histopathological and biochemical analyses of the brain and demonstrated that VLCFA accumulate in morphological normal brain indicating that the biochemical abnormality precedes histopathological changes [33].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [33] 33. C.J. Reinecke, D.P. Knoll, P.J. Pretorius, H.S. Steyn, R.H. Simpson, The correlation between biochemical and histopathological findings in adrenoleukodystrophy, J. Neurol. Sci. 70 (1985) 21-38.
Not checked in the free run.
- Premisenone given
The AMN phenotype is fully penetrant in adults after the age of 55 years.
“the AMN phenotype is fully penetrant in adults after the age of 55 years.”
Quote in the paperNot a substantial claim - Premisenone given
Approximately 65% of children or adults with cerebral ALD have adrenocortical insufficiency that can precede the onset of neurologic symptoms for years or decades.
“Approximately 65% of children or adults with cerebral ALD have adrenocortical insufficiency that can precede the onset of neurologic symptoms for years or decades.”
Quote in the paperNot a substantial claim - Premisecitation
Brain VLCFA levels in normal appearing white matter correlate with the clinical phenotype.
“In 2005, Asheuer and coworkers demonstrated that brain VLCFA levels in normal appearing white matter correlate with the clinical phenotype [34].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [34] 34. M. Asheuer, I. Bieche, I. Laurendeau, A. Moser, B. Hainque, M. Vidaud, P. Aubourg, Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy, Hum. Mol. Genet. 14 (2005) 1293-1303. source
Not checked in the free run.
- Premisenone given
There is no correlation between X-ALD phenotype and mutations in the ABCD1 gene.
“there is no correlation between X-ALD phenotype and mutations in the ABCD1 gene”
Quote in the paperSubstantial claim - Premisecitation
AMN is the most frequent phenotype of X-ALD.
“AMN is the most frequent phenotype of X-ALD [1,2].”
- Also stated in: § 4.1. AMN AMN, the most frequent phenotype of X-ALD, is nearly completely penetrant in adult males and affects 65% of heterozygous women by the age of 60 years (Engelen et al., manuscript in preparation).The Abcd1 knockout mouse develops a phenotype that resembles AMN at 18-20 months of age, but no cerebral demyelination [40].The neuropathological hallmark of AMN is an axonopathy with microgliosis but without significant myelin changes [83].In the CNS, ALDP is mostly expressed in oligodendrocytes, microglia, astrocytes and endothelial cells [84], but not in most neurons with the exception of hypothalamus, basal nucleus of Meynert, periaqueductal gray matter and in the locus coeruleus [85].A direct role for oligodendrocytes to sustain axonal function is supported by the observation that mice lacking 2′,3′-cyclic nucleotide phosphodiesterase (CNPase) or proteolipid protein (PLP) display axonal dysfunction without demyelination in the spinal cord and brain [86,87].It is therefore possible that the primary consequence of the loss of ALDP function in oligodendrocytes triggers progressive axonal damage without significant demyelination.Confirmation that this hypothesis is correct would require the targeted inactivation of the Abcd1 gene specifically in mouse oligodendrocytes and follow up to evaluate whether these mice indeed develop the AMN-like phenotype.In X-ALD patients, this degenerative process, however, is very slow and takes decades to finally result in clinical symptoms of AMN.Interestingly, Abcd1 knockout mice display oxidative damage to proteins in the spinal cord already at the age of 3 months [39], long before the first neuropathological lesions in the spinal cord at around 16 months of age and clinical signs at 20 months of age [40].Loss of function of ALDP and possibly the accumulation of VLCFA result in oxidative stress in oligodendrocytes.This oxidative stress and/or antioxidant defense impairment in oligodendrocytes could be the major factor that initiates axonal damage in X-ALD.This notion is supported by the observation that antioxidants reduce markers for oxidative stress and axonal degeneration in the spinal cord of Abcd1 knockout mice [88].Yet, recent transcriptomic analysis highlighted other pathways that are dysregulated in Abcd1 knockout mice, including oxidative phosphorylation, adipocytokine and insulin signaling pathways, protein synthesis and turnover, NFkappa B mediated pro-inflammatory response, inflammatory response related to TGF beta, and the Toll-like receptor pathway [89].Consistent with the microgliosis observed at the neuropathological level, these data suggest that a pro-inflammatory status is also present in AMN. · plain
“AMN, the most frequent phenotype of X-ALD, is nearly completely penetrant in adult males and affects 65% of heterozygous women by the age of 60 years (Engelen et al., manuscript in preparation).”
Quote in the paperNot a substantial claim0 of 3 sources checked- cites [1] 1. P. Aubourg, X-linked adrenoleukodystrophy, in: P.J. Vinken, C.W. Bruyn, H.W. Moser (Eds.), Handbook of Clinical Neurology, vol. 66, Elsevier, Amsterdam, 1996, pp. 447-483.
Not checked in the free run.
- cites [2] 2. H.W. Moser, A. Mahmood, G.V. Raymond, X-linked adrenoleukodystrophy, Nat. Clin. Pract. Neurol. 3 (2007) 140-151. source
Not checked in the free run.
- cites Engelen et al., manuscript in preparation
Not checked in the free run.
- Also stated in: § 4.1. AMN AMN, the most frequent phenotype of X-ALD, is nearly completely penetrant in adult males and affects 65% of heterozygous women by the age of 60 years (Engelen et al., manuscript in preparation).The Abcd1 knockout mouse develops a phenotype that resembles AMN at 18-20 months of age, but no cerebral demyelination [40].The neuropathological hallmark of AMN is an axonopathy with microgliosis but without significant myelin changes [83].In the CNS, ALDP is mostly expressed in oligodendrocytes, microglia, astrocytes and endothelial cells [84], but not in most neurons with the exception of hypothalamus, basal nucleus of Meynert, periaqueductal gray matter and in the locus coeruleus [85].A direct role for oligodendrocytes to sustain axonal function is supported by the observation that mice lacking 2′,3′-cyclic nucleotide phosphodiesterase (CNPase) or proteolipid protein (PLP) display axonal dysfunction without demyelination in the spinal cord and brain [86,87].It is therefore possible that the primary consequence of the loss of ALDP function in oligodendrocytes triggers progressive axonal damage without significant demyelination.Confirmation that this hypothesis is correct would require the targeted inactivation of the Abcd1 gene specifically in mouse oligodendrocytes and follow up to evaluate whether these mice indeed develop the AMN-like phenotype.In X-ALD patients, this degenerative process, however, is very slow and takes decades to finally result in clinical symptoms of AMN.Interestingly, Abcd1 knockout mice display oxidative damage to proteins in the spinal cord already at the age of 3 months [39], long before the first neuropathological lesions in the spinal cord at around 16 months of age and clinical signs at 20 months of age [40].Loss of function of ALDP and possibly the accumulation of VLCFA result in oxidative stress in oligodendrocytes.This oxidative stress and/or antioxidant defense impairment in oligodendrocytes could be the major factor that initiates axonal damage in X-ALD.This notion is supported by the observation that antioxidants reduce markers for oxidative stress and axonal degeneration in the spinal cord of Abcd1 knockout mice [88].Yet, recent transcriptomic analysis highlighted other pathways that are dysregulated in Abcd1 knockout mice, including oxidative phosphorylation, adipocytokine and insulin signaling pathways, protein synthesis and turnover, NFkappa B mediated pro-inflammatory response, inflammatory response related to TGF beta, and the Toll-like receptor pathway [89].Consistent with the microgliosis observed at the neuropathological level, these data suggest that a pro-inflammatory status is also present in AMN. · plain
- Premisecitation
Twenty percent of AMN males develop, usually between 20 and 35 years of age, a cerebral demyelinating form of the disease.
“Twenty percent of AMN males develop, usually between 20 and 35 years of age, a cerebral demyelinating form of the disease [3].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [3] 3. B.M. van Geel, L. Bezman, D.J. Loes, H.W. Moser, G.V. Raymond, Evolution of phe- notypes in adult male patients with X-linked adrenoleukodystrophy, Ann. Neu- rol. 49 (2001) 186-194.
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- Premisereasoning
Overall, for male X-ALD patients the lifetime risk to develop cerebral ALD, either in childhood or in adulthood, is around 60%.
“Overall, for male X-ALD patients the lifetime risk to develop cerebral ALD, either in childhood or in adulthood, is around 60%.”
Quote in the paperNot a substantial claim - Premisenone given
Cerebral ALD is the most severe phenotype of X-ALD.
“Cerebral ALD is the most severe phenotype of X-ALD.”
Quote in the paperNot a substantial claim - Premisecitation
Studies in obligate heterozygotes have shown false negative results in approximately 20% of cases.
“studies in obligate heterozygotes have shown false negative results in approximately 20% of cases [14].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [14] 14. H.W. Moser, K.D. Smith, P.A. Watkins, J. Powers, A.B. Moser, X-linked adrenoleu- kodystrophy, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabol- ic and Molecular Bases of Inherited Disease, McGraw Hill, New York, 2001, pp. 3257-3301.
Not checked in the free run.
- Interpretationcitation
Mutation analysis is the most reliable method for the identification of heterozygotes, provided that the mutation in the family has been defined in an affected male or obligate heterozygote relative.
“Therefore, mutation analysis is the most reliable method for the identification of heterozygotes, provided that the mutation in the family has been defined in an affected male or obligate heterozygote relative [25].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [25] 25. C.D. Boehm, G.R. Cutting, M.B. Lachtermacher, H.W. Moser, S.S. Chong, Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy, Mol. Genet. Metab. 66 (1999) 128-136.
Not checked in the free run.
- Premisereasoning
A newborn male with X-ALD, as identified by a mutation in the ABCD1 gene, is likely to develop AMN in adulthood.
“A newborn male with X-ALD, as identified by a mutation in the ABCD1 gene, is likely to develop AMN in adulthood.”
Quote in the paperNot a substantial claim - Premisecitation
X-ALD is clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD).
“X-linked adrenoleukodystrophy (X-ALD) is clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD) [1,2].”
Quote in the paperNot a substantial claim0 of 2 sources checked- cites [1] 1. P. Aubourg, X-linked adrenoleukodystrophy, in: P.J. Vinken, C.W. Bruyn, H.W. Moser (Eds.), Handbook of Clinical Neurology, vol. 66, Elsevier, Amsterdam, 1996, pp. 447-483.
Not checked in the free run.
- cites [2] 2. H.W. Moser, A. Mahmood, G.V. Raymond, X-linked adrenoleukodystrophy, Nat. Clin. Pract. Neurol. 3 (2007) 140-151. source
Not checked in the free run.
- Premisenone given
The disorder is inherited in an X-linked manner.
“The disorder is inherited in an X-linked manner.”
Quote in the paperSubstantial claim - Interpretationreasoning
This mutation may thus represent such a rare variant of a genotype-phenotype relation.
“This mutation may thus represent such a rare variant of a genotype-phenotype relation.”
Quote in the paperNot a substantial claim - Premisecitation
Segregation analysis suggests that in addition to disease-causing ABCD1 mutations and environmental factors, other autosomal inherited genetic factors are involved in the clinical manifestation of X-ALD.
“Segregation analysis suggests that in addition to the disease causing ABCD1 mutations and environmental factors, other genetic autosomal inherited factors are involved in the clinical manifestation of X-ALD [70,70,71].”
Quote in the paperSubstantial claim0 of 2 sources checked- cites [70] 70. K.D. Smith, G. Sack, T.H. Beaty, A. Bergin, S. Naidu, A. Moser, H.W. Moser, A ge- netic basis for the multiple phenotypes of X-linked adrenoleukodystrophy, Am. J. Hum. Genet. 49 (1991) 165.
Not checked in the free run.
- cites [71] 71. N.E. Maestri, T.H. Beaty, Predictions of a 2-locus model for disease heterogene- ity: application to adrenoleukodystrophy, Am. J. Med. Genet. 44 (1992) 576-582.
Not checked in the free run.
- Premisecitation
Investigations of other candidate genes such as the HLA haplotype have shown conflicting results.
“Investigations of other candidate genes such as the HLA haplotype have shown conflicting results [75,76], but these analyses may have been performed in underpowered sample collectives making a final conclusion uncertain.”
Quote in the paperNot a substantial claim0 of 2 sources checked- cites [75] 75. J. Berger, H. Bernheimer, I. Fae, A. Braun, A. Roscher, B. Molzer, G. Fischer, Asso- ciation of X-linked adrenoleukodystrophy with HLA DRB1 alleles, Biochem. Bio- phys. Res. Commun. 216 (1995) 447-451.
Not checked in the free run.
- cites [76] 76. M.C. McGuinness, J.M. Powers, W.B. Bias, B.J. Schmeckpeper, A.H. Segal, V.C. Gowda, S.L. Wesselingh, J. Berger, D.E. Griffin, K.D. Smith, Human leukocyte an- tigens and cytokine expression in cerebral inflammatory demyelinative lesions of X-linked adrenoleukodystrophy and multiple sclerosis, J. Neuroimmunol. 75 (1997) 174-182.
Not checked in the free run.
- Premisecitation
The VLCFA that accumulate in X-ALD are only partly absorbed from the diet.
“The VLCFA that accumulate in X-ALD are only partly absorbed from the diet [52].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [52] 52. Y. Kishimoto, H.W. Moser, N. Kawamura, M. Platt, S.L. Pallante, C. Fenselau, Ad- renoleukodystrophy: evidence that abnormal very long chain fatty acids of brain cholesterol esters are of exogenous origin, Biochem. Biophys. Res. Commun. 96 (1980) 69-76. source
Not checked in the free run.
- Interpretationreasoning
The HLA haplotype analyses may have been performed in underpowered sample collectives, making a final conclusion uncertain.
“Investigations of other candidate genes such as the HLA haplotype have shown conflicting results [75,76], but these analyses may have been performed in underpowered sample collectives making a final conclusion uncertain.”
Quote in the paperNot a substantial claim - Interpretationreasoning
The total lack of a functional ALDP transporter alone does not necessarily lead to the severe form of X-ALD.
“These observations clearly demonstrate that the total lack of a functional ALDP transporter alone does not necessarily lead to the severe form of X-ALD.”
Quote in the paperSubstantial claim - Premisecitation
FATP4 encoded by the SLC27A4 gene is the fatty acyl-CoA synthetase that preferentially activates VLCFA to their CoA derivatives.
“It has now been demonstrated that the fatty acid transport protein 4 (FATP4) encoded by the SLC27A4 gene is the fatty acyl-CoA synthetase that preferentially activates VLCFA to their CoA derivatives [44].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [44] 44. Z. Jia, C.L. Moulson, Z. Pei, J.H. Miner, P.A. Watkins, Fatty acid transport protein 4 is the principal very long chain fatty acyl-CoA synthetase in skin fibroblasts, J. Biol. Chem. 282 (2007) 20573-20583.
Not checked in the free run.
- Premisecitation
The majority of VLCFA results from endogenous synthesis through elongation of long-chain fatty acids.
“Tsuji et al. demonstrated that the majority results from endogenous synthesis through elongation of long-chain fatty acids [53].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [53] 53. S. Tsuji, T. Sano, T. Ariga, T. Miyatake, Increased synthesis of hexacosanoic acid (C26:0) by cultured skin fibroblasts from patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN), J. Biochem. 90 (1981) 1233-1236 (Tokyo). source
Not checked in the free run.
- Premisecitation
Sequence and segregation analyses of the ABCD2 gene in a large X-ALD family with different phenotypes, as well as two independent association studies of polymorphisms and clinical phenotypes, excluded ABCD2 as a major modifier locus in X-ALD.
“However, sequence and segregation analyses of the ABCD2 gene in a large X-ALD family with different phenotypes, as well as two independent association studies of polymorphisms and clinical phenotypes excluded ABCD2 as a major modifier locus in X-ALD [73,74].”
Quote in the paperSubstantial claim0 of 2 sources checked- cites [73] 73. E.M. Maier, P.U. Mayerhofer, M. Asheuer, W. Kohler, M. Rothe, A.C. Muntau, A.A. Roscher, A. Holzinger, P. Aubourg, J. Berger, X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype, Biochem. Biophys. Res. Commun. 377 (2008) 176-180. source
Not checked in the free run.
- cites [74] 74. T. Matsukawa, M. Asheuer, Y. Takahashi, J. Goto, Y. Suzuki, N. Shimozawa, H. Takano, O. Onodera, M. Nishizawa, P. Aubourg, S. Tsuji, Identification of novel SNPs of ABCD1, ABCD2, ABCD3 and ABCD4 genes in patients with X-linked adre- noleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes, Neurogenetics 12 (2011) 41-50.
Not checked in the free run.
- Premisecitation
Based on mutational analysis of the ABCD1 gene in X-ALD patients, 587 different mutations have been described up to now.
“Based on mutational analysis of the ABCD1 gene in X-ALD patients, 587 different mutations have been described up to now [64] (http:// www.x-ald.nl).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [64] 64. S. Kemp, A. Pujol, H.R. Waterham, B.M. van Geel, C.D. Boehm, G.V. Raymond, G.R. Cutting, R.J. Wanders, H.W. Moser, ABCD1 mutations and the X-linked adreno- leukodystrophy mutation database: role in diagnosis and clinical correlations, Hum. Mutat. 18 (2001) 499-515. source
Not checked in the free run.
- Premisecitation
The minor allele of rs973742 was significantly more frequent in pure-AMN patients (χ2 = 7.6; P = 0.006).
“The minor allele was significantly more frequent in pure-AMN patients (χ 2 = 7.6; P = 0.006).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [80] 80. M. Barbier, A. Sabbagh, E. Kasper, M. Asheuer, O. Ahouansou, I. Pribill, S. Forss-Petter, M. Vidaud, J. Berger, P. Aubourg, CD1 gene polymorphisms and phe- notypic variability in X-linked adrenoleukodystrophy, PLoS One 7 (2012) e29872.
Not checked in the free run.
- Premisecitation
77% of all non-recurrent ABCD1 mutations result in the absence of ALDP.
“It is described that 77% of all non-recurrent ABCD1 mutations result in the absence of ALDP (http://www.x-ald.nl).”
Quote in the paperNot a substantial claim - Premisecitation
The desorption of C26:0 from a phospholipid bilayer model membrane is 10,000 times slower than that of C16:0 and C18:0 fatty acids.
“The desorption of C26:0 from a phospholipid bilayer model membrane is 10,000 times slower than that of C16:0 and C18:0 fatty acids [35].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [35] 35. J.K. Ho, H. Moser, Y. Kishimoto, J.A. Hamilton, Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the path- ogenesis of adrenoleukodystrophy, J. Clin. Invest. 96 (1995) 1455-1463. source
Not checked in the free run.
- Premisecitation
Positive association studies with variants in genes involved in methionine metabolism, SOD2, or altered gene expression of Bubblegum and ABCD4 might indicate their involvement in the pathology of X-ALD.
“However, positive association studies with variants in genes involved in methionine metabolism [77,78], and SOD2 [79], or altered gene expression of Bubblegum (a member of the VLCFacyl-CoA synthetase family) [34], and ABCD4 (PMP69/P70R, another half ABC-transporter with high homology to ALDP) [34], might indicate their involvement in the pathology of X-ALD.”
Quote in the paperNot a substantial claim0 of 4 sources checked- cites [77] 77. M. Linnebank, S. Kemp, R.J.A. Wanders, W.J. Kleijer, M.L.T. van der Sterre, J. Gartner, K. Fliessbach, A. Semmler, P. Sokolowski, W. Kohler, U. Schlegel, S. Schmidt, T. Klockgether, U. Wullner, Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy, Neurology 66 (2006) 442-443.
Not checked in the free run.
- cites [78] 78. A. Semmler, X. Bao, G. Cao, W. Kohler, M. Weller, P. Aubourg, M. Linnebank, Ge- netic variants of methionine metabolism and X-ALD phenotype generation: re- sults of a new study sample, J. Neurol. 256 (2009) 1277-1280.
Not checked in the free run.
- cites [79] 79. R.D. Brose, D. Avramopoulos, K.D. Smith, SOD2 as a potential modifier of X-linked adrenoleukodystrophy clinical phenotypes, J. Neurol. (2012), doi:10. 1007/s00415-011-6371-6378.
Not checked in the free run.
- cites [34] 34. M. Asheuer, I. Bieche, I. Laurendeau, A. Moser, B. Hainque, M. Vidaud, P. Aubourg, Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy, Hum. Mol. Genet. 14 (2005) 1293-1303. source
Not checked in the free run.
- Premisecitation
The synthesis of C24:0 and C26:0 is carried out by the concerted action of ELOVL6 (C18:0-C22:0) and ELOVL1 (C24:0-C26:0).
“It was recently demonstrated that the synthesis of C24:0 and C26:0 is carried out by the concerted action of ELOVL6 (C18:0-C22:0) and ELOVL1 (C24:0-C26:0) [50] (Fig. 2).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [50] 50. R. Ofman, I.M. Dijkstra, C.W. van Roermund, N. Burger, M. Turkenburg, A. van Cruchten, C.E. van Engen, R.J. Wanders, S. Kemp, The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy, EMBO Mol. Med. 2 (2010) 90-97. source
Not checked in the free run.
- Premisecitation
ALDP-related protein (ALDRP, ABCD2), the closest homolog of ALDP, has an overlapping function with ALDP.
“The demonstration that ALDP-related protein (ALDRP, ABCD2), the closest homolog of ALDP, has an overlapping function with ALDP [72] suggested the ABCD2 gene as a putative X-ALD modifier gene.”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [72] 72. A. Netik, S. Forss-Petter, A. Holzinger, B. Molzer, G. Unterrainer, J. Berger, Adre- noleukodystrophy-related protein can compensate functionally for adrenoleu- kodystrophy protein deficiency (X-ALD): implications for therapy, Hum. Mol. Genet. 8 (1999) 907-913. source
Not checked in the free run.
- Interpretationcitation
The ABCD2 gene was suggested as a putative X-ALD modifier gene.
“The demonstration that ALDP-related protein (ALDRP, ABCD2), the closest homolog of ALDP, has an overlapping function with ALDP [72] suggested the ABCD2 gene as a putative X-ALD modifier gene.”
Quote in the paperNot a substantial claim - Premisereasoning
There is no simple and general genotype-phenotype relation in X-ALD.
“There is no simple and general genotype-phenotype relation in X-ALD.”
Quote in the paperSubstantial claim - Interpretationreasoning
Additional factors are required to initiate the inflammatory process.
“Thus, additional factors are required to initiate the inflammatory process.”
Quote in the paperSubstantial claim - Premisecitation
The ABCD1 gene was identified by the use of positional cloning strategies.
“The ABCD1 gene (GenBank accession number: NM_000033) was identified by the use of positional cloning strategies [43].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [43] 43. J. Mosser, A.M. Douar, C.O. Sarde, P. Kioschis, R. Feil, H. Moser, A.M. Poustka, J.L. Mandel, P. Aubourg, Putative X-linked adrenoleukodystrophy gene shares unex- pected homology with ABC transporters, Nature 361 (1993) 726-730. source
Not checked in the free run.
- Premisecitation
When the ABCD1 gene was identified, its product (ALDP) was not a VLCFacyl-CoA synthetase, but a peroxisomal membrane protein belonging to the ATP-binding cassette (ABC) superfamily of transporters.
“It therefore came as a surprise that when the ABCD1 gene was identified, its product (ALDP) was not a VLCFacyl-CoA synthetase, but a peroxisomal membrane protein belonging to the ATP-binding cassette (ABC) superfamily of transporters [43].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [43] 43. J. Mosser, A.M. Douar, C.O. Sarde, P. Kioschis, R. Feil, H. Moser, A.M. Poustka, J.L. Mandel, P. Aubourg, Putative X-linked adrenoleukodystrophy gene shares unex- pected homology with ABC transporters, Nature 361 (1993) 726-730. source
Not checked in the free run.
- Premisecitation
Inclusion of C26:0 in a model membrane disrupts membrane structure.
“Microcalorimetric studies have shown that inclusion of C26:0 in a model membrane disrupts membrane structure [35].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [35] 35. J.K. Ho, H. Moser, Y. Kishimoto, J.A. Hamilton, Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the path- ogenesis of adrenoleukodystrophy, J. Clin. Invest. 96 (1995) 1455-1463. source
Not checked in the free run.
- Interpretationcitation
ALDP transports VLCFacyl-CoA into peroxisomes.
“These data establish that ALDP transports VLCFacyl-CoA into peroxisomes”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [50] 50. R. Ofman, I.M. Dijkstra, C.W. van Roermund, N. Burger, M. Turkenburg, A. van Cruchten, C.E. van Engen, R.J. Wanders, S. Kemp, The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy, EMBO Mol. Med. 2 (2010) 90-97. source
Not checked in the free run.
- Premisecitation
AMN affects 65% of heterozygous women by the age of 60 years.
“AMN, the most frequent phenotype of X-ALD, is nearly completely penetrant in adult males and affects 65% of heterozygous women by the age of 60 years (Engelen et al., manuscript in preparation).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Engelen et al., manuscript in preparation
Not checked in the free run.
- Premisecitation
VLCFA levels are higher in the normal appearing white matter of patients with cerebral ALD than in the normal white matter of AMN patients.
“Indeed, VLCFA levels are higher in the normal appearing white matter of patients with cerebral ALD than in the normal white matter of AMN patients [34].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [34] 34. M. Asheuer, I. Bieche, I. Laurendeau, A. Moser, B. Hainque, M. Vidaud, P. Aubourg, Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy, Hum. Mol. Genet. 14 (2005) 1293-1303. source
Not checked in the free run.
- Interpretationreasoning
The data currently available point to the existence of many rare genetic variant interactions that affect the clinical manifestations in X-ALD patients.
“The data currently available point to the existence of many rare genetic variant interactions that affect the clinical manifestations in X-ALD patients.”
Quote in the paperSubstantial claim - Interpretationcitation
Oligodendrocytes have a direct role in sustaining axonal function.
“A direct role for oligodendrocytes to sustain axonal function is supported by the observation that mice lacking 2′,3′-cyclic nucleotide phosphodiesterase (CNPase) or proteolipid protein (PLP) display axonal dysfunction without demyelination in the spinal cord and brain [86,87].”
Quote in the paperSubstantial claim - Premisecitation
The neuropathological hallmark of AMN is an axonopathy with microgliosis but without significant myelin changes.
“The neuropathological hallmark of AMN is an axonopathy with microgliosis but without significant myelin changes [83].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [83] 83. J.M. Powers, D.P. DeCiero, M. Ito, A.B. Moser, H.W. Moser, Adrenomyeloneuropa- thy: a neuropathologic review featuring its noninflammatory myelopathy, J. Neuropathol. Exp. Neurol. 59 (2000) 89-102.
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- Interpretationcitation
Oxidative stress and/or antioxidant defense impairment in oligodendrocytes could be the major factor that initiates axonal damage in X-ALD.
“This oxidative stress and/or antioxidant defense impairment in oligodendrocytes could be the major factor that initiates axonal damage in X-ALD.”
Quote in the paperSubstantial claim - Premisecitation
Recent transcriptomic analysis highlighted other pathways that are dysregulated in Abcd1 knockout mice, including oxidative phosphorylation, adipocytokine and insulin signaling pathways, protein synthesis and turnover, NFkappa B mediated pro-inflammatory response, inflammatory response related to TGF beta, and the Toll-like receptor pathway.
“Yet, recent transcriptomic analysis highlighted other pathways that are dysregulated in Abcd1 knockout mice, including oxidative phosphorylation, adipocytokine and insulin signaling pathways, protein synthesis and turnover, NFkappa B mediated pro-inflammatory response, inflammatory response related to TGF beta, and the Toll-like receptor pathway [89].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [89] 89. A. Schluter, L. Espinosa, S. Fourcade, J. Galino, E. Lopez, E. Ilieva, L. Morato, M. Asheuer, T. Cook, A. McLaren, J. Reid, F. Kelly, S. Bates, P. Aubourg, E. Galea, A. Pujol, Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy, Hum. Mol. Genet. 21 (2012) 1062-1077.
Not checked in the free run.
- Interpretationreasoning
A pro-inflammatory status is present in AMN.
“Consistent with the microgliosis observed at the neuropathological level, these data suggest that a pro-inflammatory status is also present in AMN.”
Quote in the paperNot a substantial claim - Premisecitation
Monozygotic twins can develop different clinical phenotypes.
“This is supported by the development of different clinical phenotypes in monozygotic twins [90,91] and the observation that moderate head trauma can initiate cerebral demyelination in AMN patients [69].”
Quote in the paperSubstantial claim0 of 2 sources checked- cites [90] 90. M. Di Rocco, L. Doria-Lamba, U. Caruso, Monozygotic twins with X-linked adre- noleukodystrophy and different phenotypes, Ann. Neurol. 50 (2001) 424.
Not checked in the free run.
- cites [91] 91. G.C. Korenke, S. Fuchs, E. Krasemann, H.G. Doerr, E. Wilichowski, D.H. Hunneman, F. Hanefeld, Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype, Ann. Neurol. 40 (1996) 254-257.
Not checked in the free run.
- Premisecitation
Antioxidants reduce markers for oxidative stress and axonal degeneration in the spinal cord of Abcd1 knockout mice.
“This notion is supported by the observation that antioxidants reduce markers for oxidative stress and axonal degeneration in the spinal cord of Abcd1 knockout mice [88].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [88] 88. J. Lopez-Erauskin, S. Fourcade, J. Galino, M. Ruiz, A. Schluter, A. Naudi, M. Jove, M. Portero-Otin, R. Pamplona, I. Ferrer, A. Pujol, Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy, Ann. Neurol. 70 (2011) 84-92.
Not checked in the free run.
- Premisecitation
AMN is nearly completely penetrant in adult males.
“AMN, the most frequent phenotype of X-ALD, is nearly completely penetrant in adult males and affects 65% of heterozygous women by the age of 60 years (Engelen et al., manuscript in preparation).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Engelen et al., manuscript in preparation
Not checked in the free run.
- Premisecitation
Mice lacking CNPase or PLP display axonal dysfunction without demyelination in the spinal cord and brain.
“A direct role for oligodendrocytes to sustain axonal function is supported by the observation that mice lacking 2′,3′-cyclic nucleotide phosphodiesterase (CNPase) or proteolipid protein (PLP) display axonal dysfunction without demyelination in the spinal cord and brain [86,87].”
Quote in the paperSubstantial claim0 of 2 sources checked- cites [86] 86. I. Griffiths, M. Klugmann, T. Anderson, D. Yool, C. Thomson, M.H. Schwab, A. Schneider, F. Zimmermann, M. McCulloch, N. Nadon, K.A. Nave, Axonal swellings and degeneration in mice lacking the major proteolipid of myelin, Science 280 (1998) 1610-1613. source
Not checked in the free run.
- cites [87] 87. C. Lappe-Siefke, S. Goebbels, M. Gravel, E. Nicksch, J. Lee, P.E. Braun, I.R. Griffiths, K.A. Nave, Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination, Nat. Genet. 33 (2003) 366-374. source
Not checked in the free run.
- Premisecitation
The association of rs973742 with pure-AMN was no longer statistically significant after Bonferroni correction for multiple testing.
“However, this association was no longer statistically significant after Bonferroni correction for multiple testing [80].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [80] 80. M. Barbier, A. Sabbagh, E. Kasper, M. Asheuer, O. Ahouansou, I. Pribill, S. Forss-Petter, M. Vidaud, J. Berger, P. Aubourg, CD1 gene polymorphisms and phe- notypic variability in X-linked adrenoleukodystrophy, PLoS One 7 (2012) e29872.
Not checked in the free run.
- Premisecitation
Moderate head trauma can initiate cerebral demyelination in AMN patients.
“This is supported by the development of different clinical phenotypes in monozygotic twins [90,91] and the observation that moderate head trauma can initiate cerebral demyelination in AMN patients [69].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [69] 69. G.V. Raymond, R. Seidman, T.S. Monteith, E. Kolodny, S. Sathe, A. Mahmood, J.M. Powers, Head trauma can initiate the onset of adreno-leukodystrophy, J. Neurol. Sci. 290 (2010) 70-74.
Not checked in the free run.
- Interpretationreasoning
Loss of function of ALDP and possibly the accumulation of VLCFA result in oxidative stress in oligodendrocytes.
“Loss of function of ALDP and possibly the accumulation of VLCFA result in oxidative stress in oligodendrocytes.”
Quote in the paperSubstantial claim - Interpretationreasoning
The rs973742 association likely provides evidence for a possible involvement in the molecular mechanism of X-ALD.
“This is a general problem associated with rare diseases in which the sample size is relatively small, but nevertheless it likely provides evidence for a possible involvement in the molecular mechanism of X-ALD.”
Quote in the paperSubstantial claim - Premisecitation
ELOVL1 is a candidate modifier gene based on its important function in VLCFA synthesis.
“ELOVL1 is another candidate modifier gene based on its important function in VLCFA synthesis [50].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [50] 50. R. Ofman, I.M. Dijkstra, C.W. van Roermund, N. Burger, M. Turkenburg, A. van Cruchten, C.E. van Engen, R.J. Wanders, S. Kemp, The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy, EMBO Mol. Med. 2 (2010) 90-97. source
Not checked in the free run.
- Premisecitation
In the CNS, ALDP is mostly expressed in oligodendrocytes, microglia, astrocytes and endothelial cells, but not in most neurons with the exception of hypothalamus, basal nucleus of Meynert, periaqueductal gray matter and locus coeruleus.
“In the CNS, ALDP is mostly expressed in oligodendrocytes, microglia, astrocytes and endothelial cells [84], but not in most neurons with the exception of hypothalamus, basal nucleus of Meynert, periaqueductal gray matter and in the locus coeruleus [85].”
Quote in the paperSubstantial claim0 of 2 sources checked- cites [84] 84. F. Fouquet, J.M. Zhou, E. Ralston, K. Murray, F. Troalen, E. Magal, O. Robain, M. Dubois-Dalcq, P. Aubourg, Expression of the adrenoleukodystrophy protein in the human and mouse central nervous system, Neurobiol. Dis. 3 (1997) 271-285. source
Not checked in the free run.
- cites [85] 85. R. Hoftberger, M. Kunze, I. Weinhofer, F. boul-Enein, T. Voigtlander, I. Oezen, G. Amann, H. Bernheimer, H. Budka, J. Berger, Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy, Neurobiol. Dis. 28 (2007) 165-174. source
Not checked in the free run.
- Interpretationnone given
In X-ALD patients, the degenerative process is very slow and takes decades to finally result in clinical symptoms of AMN.
“In X-ALD patients, this degenerative process, however, is very slow and takes decades to finally result in clinical symptoms of AMN.”
Quote in the paperNot a substantial claim - Interpretationreasoning
It is unlikely that there is a single modifier locus that allows the prediction of the future phenotypic outcome for a presymptomatic X-ALD patient.
“In summary, it seems unlikely that there is a single modifier locus that allows the prediction of the future phenotypic outcome for a presymptomatic X-ALD patient.”
Quote in the paperSubstantial claim - Premisecitation
VLCFA are highly elevated in myelin-specific lipid species.
“Even though there is no correlation between the levels of VLCFA in plasma or fibroblasts and the X-ALD phenotype, VLCFA are highly elevated in myelinspecific lipid species [18,[26][27][28][29].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [18,[26][27][28][29]
Not checked in the free run.
- Interpretationreasoning
A combination of genetic, epigenetic and environmental factors likely play an essential role as triggers for the development of cerebral ALD.
“Because of the absence of general genotype-phenotype correlation in X-ALD, it is likely that a combination of genetic, epigenetic and environmental factors play an essential role as triggers for the development of cerebral ALD.”
Quote in the paperSubstantial claim- Rests on an assumption: Not all X-ALD males develop cerebral demyelination with severe neuroinflammation.
- Rests on an assumption: There is an absence of general genotype-phenotype correlation in X-ALD.
- Interpretationreasoning
VLCFA-enriched complex lipids could be a key factor that contributes to the initiation of myelin instability and then cerebral demyelination.
“These VLCFA-enriched complex lipids could be a key factor that contributes to the initiation of myelin instability and then cerebral demyelination.”
Quote in the paperSubstantial claim - Interpretationcitation
The accumulation of T and B lymphocytes beyond the actively demyelinating lesions in the brain is strongly suggestive of an immune attack.
“The accumulation of T and B lymphocytes beyond the actively demyelinating lesions in the brain are strongly suggestive of an immune attack [100].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [100] 100. J.M. Powers, Y. Liu, A.B. Moser, H.W. Moser, The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implica- tions, J. Neuropathol. Exp. Neurol. 51 (1992) 630-643.
Not checked in the free run.
- Interpretationreasoning
The absence of a relevant X-ALD mouse model that develops cerebral demyelination with neuroinflammation is a major limitation in deciphering the mechanism underlying the onset of cerebral inflammatory demyelination in X-ALD.
“In this respect, the absence of a relevant X-ALD mouse model that develops cerebral demyelination with neuroinflammation is a major limitation in deciphering the mechanism underlying the onset of cerebral inflammatory demyelination in X-ALD.”
Quote in the paperSubstantial claim - Premisecitation
The synthesis of VLCFA (C26:0) is enhanced in X-ALD.
“The synthesis of VLCFA (C26:0) is enhanced in X-ALD [56] and it requires the elongases ELOVL6 and ELOVL1 [50,51].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [56] 56. S. Kemp, F. Valianpour, S. Denis, R. Ofman, R.J. Sanders, P. Mooyer, P.G. Barth, R.J.A. Wanders, Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy, Mol. Genet. Metab. 84 (2005) 144-151. source
Not checked in the free run.
- Interpretationnone given
The presence of these lipid antigens does not exclude the participation of protein antigens as the cause of the immune attack in X-ALD.
“The presence of these lipid antigens, does not exclude the participation of protein antigens as the cause of the immune attack in X-ALD.”
Quote in the paperNot a substantial claim - Premisecitation
VLCFA synthesis involves the elongases ELOVL6 (C18:0-C22:0) and ELOVL1 (C24:0-C26:0).
“VLCFA synthesis involves the elongases ELOVL6 (C18:0-C22:0) and ELOVL1 (C24:0-C26:0).”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [51] 51. S. Kemp, R. Wanders, Biochemical aspects of X-linked adrenoleukodystrophy, Brain Pathol. 20 (2010) 831-837. source
Not checked in the free run.
- Premisecitation
Both allogeneic hematopoietic stem cell transplantation and autologous HSC gene therapy are very effective in arresting and even reversing neuroinflammatory cerebral ALD, provided that the procedure is performed at an early stage.
“This is strongly supported by the fact that both allogeneic hematopoietic stem cell (HSC) transplantation and autologous HSC gene therapy are very effective in arresting and even reversing neuroinflammatory cerebral ALD, provided that the procedure is performed at an early stage [101,102].”
Quote in the paperSubstantial claim0 of 2 sources checked- cites [101] 101. W.P. Miller, S.M. Rothman, D. Nascene, T. Kivisto, T.E. DeFor, R.S. Ziegler, J. Eisengart, K. Leiser, G. Raymond, T.C. Lund, J. Tolar, P.J. Orchard, Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adre- noleukodystrophy: the largest single-institution cohort report, Blood 118 (2011) 1971-1978.
Not checked in the free run.
- cites [102] 102. N. Cartier, S. Hacein-Bey-Abina, C.C. Bartholomae, G. Veres, M. Schmidt, I. Kutschera, M. Vidaud, U. Abel, L. Dal-Cortivo, L. Caccavelli, N. Mahlaoui, V. Kiermer, D. Mittelstaedt, C. Bellesme, N. Lahlou, F. Lefrere, S. Blanche, M. Audit, E. Payen, P. Leboulch, B. l'Homme, P. Bougneres, K.C. Von, A. Fischer, M. Cavazzana-Calvo, P. Aubourg, Hematopoietic stem cell gene therapy with a lenti- viral vector in X-linked adrenoleukodystrophy, Science 326 (2009) 818-823. source
Not checked in the free run.
- Premisecitation
For the majority of X-ALD patients, including males and females with AMN, as well as males with too advanced cerebral demyelinating disease for allogeneic HSC transplantation to be effective, treatment options are very limited and mostly symptomatic.
“For the majority of X-ALD patients, including males and females with AMN, as well as males with too advanced cerebral demyelinating disease for allogeneic HSC transplantation to be effective, treatment options are very limited and mostly symptomatic [103].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [103] 103. J. Berger, A. Pujol, P. Aubourg, S. Forss-Petter, Current and future pharmacolog- ical treatment strategies in X-linked adrenoleukodystrophy, Brain Pathol. 20 (2010) 845-856.
Not checked in the free run.
- Premisecitation
Increased oxidation of cholesterol may result in cytotoxic, oxidative and inflammatory activities and increased oxidative stress in glial cells.
“A decrease in plasmalogen levels could alter the transport of cholesterol which is an essential component of the myelin sheath [96], it could increase the oxidation of cholesterol in phospholipid bilayers [97] which in turn may result in cytotoxic, oxidative and inflammatory activities [98] and increased oxidative stress in glial cells [99].”
Quote in the paperSubstantial claim0 of 2 sources checked- cites [98] 98. A. Vejux, G. Lizard, Cytotoxic effects of oxysterols associated with human diseases: induction of cell death (apoptosis and/or oncosis), oxidative and inflammatory ac- tivities, and phospholipidosis, Mol. Aspects Med. 30 (2009) 153-170.
Not checked in the free run.
- cites [99] 99. P. Brites, H.R. Waterham, R.J. Wanders, Functions and biosynthesis of plasmalo- gens in health and disease, Biochim. Biophys. Acta 1636 (2004) 219-231.
Not checked in the free run.
- Premisecitation
ALDP transports C24:0/C26:0-CoA across the peroxisomal membrane.
“ALDP transports C24:0/C26:0-CoA across the peroxisomal membrane.”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [51] 51. S. Kemp, R. Wanders, Biochemical aspects of X-linked adrenoleukodystrophy, Brain Pathol. 20 (2010) 831-837. source
Not checked in the free run.
- Premisecitation
Oligodendrocytes derived from induced pluripotent stem cells from a patient with cerebral ALD accumulated more VLCFA than those derived from an AMN patient.
“In line with this, oligodendrocytes derived from induced pluripotent stem cells from a patient with cerebral ALD accumulated more VLCFA than those derived from an AMN patient [92].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [92] 92. J. Jang, H.C. Kang, H.S. Kim, J.Y. Kim, Y.J. Huh, D.S. Kim, J.E. Yoo, J.A. Lee, B. Lim, J. Lee, T.M. Yoon, I.H. Park, D.Y. Hwang, G.Q. Daley, D.W. Kim, Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients, Ann. Neurol. 70 (2011) 402-409.
Not checked in the free run.
- Premisenone given
A pro-inflammatory status is present in Abcd1 knockout mice that do not develop cerebral demyelination.
“As mentioned before, a pro-inflammatory status is present in Abcd1 knockout mice that do not develop cerebral demyelination.”
Quote in the paperNot a substantial claim - Premisecitation
VLCFA synthesis requires the elongases ELOVL6 and ELOVL1.
“The synthesis of VLCFA (C26:0) is enhanced in X-ALD [56] and it requires the elongases ELOVL6 and ELOVL1 [50,51].”
Quote in the paperNot a substantial claim0 of 2 sources checked- cites [50] 50. R. Ofman, I.M. Dijkstra, C.W. van Roermund, N. Burger, M. Turkenburg, A. van Cruchten, C.E. van Engen, R.J. Wanders, S. Kemp, The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy, EMBO Mol. Med. 2 (2010) 90-97. source
Not checked in the free run.
- cites [51] 51. S. Kemp, R. Wanders, Biochemical aspects of X-linked adrenoleukodystrophy, Brain Pathol. 20 (2010) 831-837. source
Not checked in the free run.
- Premisecitation
Plasmalogens are reduced in the brain lesions of cerebral ALD patients.
“Plasmalogens are reduced in the brain lesions of cerebral ALD patients [95].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [95] 95. M. Khan, J. Singh, I. Singh, Plasmalogen deficiency in cerebral adrenoleukodys- trophy and its modulation by lovastatin, J. Neurochem. 106 (2008) 1766-1779.
Not checked in the free run.
- Premisecitation
Research targeted at understanding the pathophysiology observed in the X-ALD mouse has resulted in novel therapeutic strategies that could potentially halt or slow down the neuroinflammation process and/or axonal degeneration.
“Research targeted at understanding the pathophysiology observed in the X-ALD mouse has resulted in novel therapeutic strategies that could potentially halt or slow down the neuroinflammation process and/or axonal degeneration [104].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [104] 104. J. Galino, M. Ruiz, S. Fourcade, A. Schluter, J. Lopez-Erauskin, C. Guilera, M. Jove, A. Naudi, E. Garcia-Arumi, A.L. Andreu, A.A. Starkov, R. Pamplona, I. Ferrer, M. Portero-Otin, A. Pujol, Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy, Antioxid. Redox. Signal. 15 (2011) 2095-2107.
Not checked in the free run.
- Premisecitation
Very long-chain fatty acids (VLCFA) are synthesized through elongation of long-chain fatty acids.
“Very long-chain fatty acids (VLCFA) are synthesized through elongation of long-chain fatty acids.”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [51] 51. S. Kemp, R. Wanders, Biochemical aspects of X-linked adrenoleukodystrophy, Brain Pathol. 20 (2010) 831-837. source
Not checked in the free run.
- Interpretationreasoning
Candidate antigens include VLCFA-enriched complex lipids that are recognized by the CD1 molecules that play a major role in MHC-unrestricted lipid antigen presentation.
“Candidate antigens include VLCFA-enriched complex lipids that are recognized by the CD1 molecules that play a major role in MHCunrestricted lipid antigen presentation.”
Quote in the paperNot a substantial claim - Interpretationcitation
Microglia with normal ALDP function likely play a significant role in halting the initiation and progression of cerebral demyelination with neuroinflammation.
“It is also likely that microglia with normal ALDP function play a significant role in halting the initiation and progression of cerebral demyelination with neuroinflammation.”
Quote in the paperSubstantial claim - Premisecitation
Mice lacking functional peroxisomes in oligodendrocytes initially show normal myelination, but develop axonal swelling followed by cerebral demyelination and infiltration of inflammatory T cells.
“This hypothesis is based on the observation that mice lacking functional peroxisomes in oligodendrocytes initially show normal myelination, but develop axonal swelling followed by cerebral demyelination and infiltration of inflammatory T cells [94].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [94] 94. C.M. Kassmann, C. Lappe-Siefke, M. Baes, B. Brugger, A. Mildner, H.B. Werner, O. Natt, T. Michaelis, M. Prinz, J. Frahm, K.A. Nave, Axonal loss and neuroinflamma- tion caused by peroxisome-deficient oligodendrocytes, Nat. Genet. 39 (2007) 969-976. source
Not checked in the free run.
- May combine two claims. 14
- Classified as probably not a substantial claim. 10
May combine two claims.
PremisecitationThe first symptoms of AMN usually appear when male patients are between 20 and 30 years but usually before the fifth decade.
“The first symptoms of AMN usually appear when male patients are between 20 and 30 years but usually before the fifth decade [3].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [3] 3. B.M. van Geel, L. Bezman, D.J. Loes, H.W. Moser, G.V. Raymond, Evolution of phe- notypes in adult male patients with X-linked adrenoleukodystrophy, Ann. Neu- rol. 49 (2001) 186-194.
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Probably not a substantial claim: may not pass S3 (load-bearing), S4 (based).
Premisenone given35% of patients with AMN have a marked progression of their myelopathy within the first 3-5 years of clinical symptom onset.
“However, 35% of patients with AMN have a marked progression of their myelopathy within the first 3-5 years of clinical symptom onset.”
Quote in the paperNot a substantial claimMay combine two claims.
Premisenone givenAMN males develop progressive stiffness and weakness of the legs, impaired vibration sense in the lower limbs, sphincter disturbances and impotence.
“AMN males develop progressive stiffness and weakness of the legs, impaired vibration sense in the lower limbs, sphincter disturbances and impotence.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing), S4 (based).
Premisenone givenAddison's disease is present in less than 1% of heterozygous women.
“Addison's disease is present in less than 1% of heterozygous women.”
Quote in the paperNot a substantial claimMay combine two claims.
Interpretationnone givenCerebral ALD presents usually with a rapidly progressive inflammatory demyelination within the brain resulting in severe cognitive and neurologic disability, a vegetative state within two to five years of clinical symptom onset and death thereafter.
“Cerebral ALD presents usually with a rapidly progressive inflammatory demyelination within the brain resulting in severe cognitive and neurologic disability, a vegetative state within two to five years of clinical symptom onset and death thereafter.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
Premisenone givenAdrenocortical insufficiency (Addison's disease) is present in approximately two-thirds of males with AMN but is often latent without evident clinical manifestations.
“Adrenocortical insufficiency (Addison's disease) is present in approximately two-thirds of males with AMN but is often latent without evident clinical manifestations, including melanoderma.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing), S4 (based).
Premisenone givenIn two-thirds of AMN patients, the neurologic disability progresses slowly.
“In two-thirds of AMN patients, the neurologic disability progresses slowly.”
Quote in the paperNot a substantial claimMay combine two claims.
PremisecitationA Dutch kindred has been described in which all heterozygous females are asymptomatic and all X-ALD males are either still asymptomatic at old age or show mild phenotypes including gonadal insufficiency and AMN without cerebral involvement.
“For example, a Dutch kindred has been described in which all heterozygous females are asymptomatic and all X-ALD males are either still asymptomatic at old age or show mild phenotypes including gonadal insufficiency and AMN without cerebral involvement [64].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [64] 64. S. Kemp, A. Pujol, H.R. Waterham, B.M. van Geel, C.D. Boehm, G.V. Raymond, G.R. Cutting, R.J. Wanders, H.W. Moser, ABCD1 mutations and the X-linked adreno- leukodystrophy mutation database: role in diagnosis and clinical correlations, Hum. Mutat. 18 (2001) 499-515. source
Not checked in the free run.
May combine two claims.
Premisenone givenAll X-ALD patients have mutations within the ABCD1 gene, which confirmed that this is the genetic cause of X-ALD.
“All X-ALD patients have mutations within the ABCD1 gene, which confirmed that this is the genetic cause of X-ALD.”
Quote in the paperSubstantial claimMay combine two claims.
InterpretationcitationVLCFA cause cell death by a combination of a disturbance in calcium homeostasis and mitochondrial dysfunction, but not primarily via ROS-production.
“Based on the results obtained the authors concluded that VLCFA cause cell death by a combination of a disturbance in calcium homeostasis and mitochondrial dysfunction, but not primarily via ROS-production.”
Quote in the paperSubstantial claimMay combine two claims.
InterpretationcitationALDP deficiency in X-ALD impairs peroxisomal VLCFA beta-oxidation and raises cytosolic VLCFacyl-CoA levels.
“ALDP deficiency in X-ALD has two major effects: 1) it impairs peroxisomal VLCFA beta-oxidation and 2) it raises cytosolic VLCFacyl-CoA levels [50].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [50] 50. R. Ofman, I.M. Dijkstra, C.W. van Roermund, N. Burger, M. Turkenburg, A. van Cruchten, C.E. van Engen, R.J. Wanders, S. Kemp, The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy, EMBO Mol. Med. 2 (2010) 90-97. source
Not checked in the free run.
May combine two claims.
PremisecitationThe affected members of this kindred carry a missense mutation p.Arg389His that results in stable ALDP correctly localized to peroxisomes.
“The affected members of this kindred carry a missense mutation p.Arg389His that results in stable ALDP correctly localized to peroxisomes.”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [64] 64. S. Kemp, A. Pujol, H.R. Waterham, B.M. van Geel, C.D. Boehm, G.V. Raymond, G.R. Cutting, R.J. Wanders, H.W. Moser, ABCD1 mutations and the X-linked adreno- leukodystrophy mutation database: role in diagnosis and clinical correlations, Hum. Mutat. 18 (2001) 499-515. source
Not checked in the free run.
May combine two claims.
PremisecitationELOVL1 knockdown reduces elongation of C22:0 to C26:0 and lowers C26:0 levels in X-ALD fibroblasts.
“Importantly, ELOVL1 knockdown reduces elongation of C22:0 to C26:0 and lowers C26:0 levels in X-ALD fibroblasts [50].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [50] 50. R. Ofman, I.M. Dijkstra, C.W. van Roermund, N. Burger, M. Turkenburg, A. van Cruchten, C.E. van Engen, R.J. Wanders, S. Kemp, The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy, EMBO Mol. Med. 2 (2010) 90-97. source
Not checked in the free run.
May combine two claims.
PremisecitationAmong 489 X-ALD families tested at the Kennedy Krieger Institute, 4.1% of the patients were affected by a de novo mutation in the index case, which indicates that the mutation occurred in the germ line.
“Wang and coworkers reported that among 489 X-ALD families tested at the Kennedy Krieger Institute, 4.1% of the patients were affected by a de novo mutation in the index case, which indicates that the mutation occurred in the germ line [62].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [62] 62. Y. Wang, R. Busin, C. Reeves, L. Bezman, G. Raymond, C.J. Toomer, P.A. Watkins, A. Snowden, A. Moser, S. Naidu, G. Bibat, S. Hewson, K. Tam, J.T. Clarke, L. Charnas, G. Stetten, B. Karczeski, G. Cutting, S. Steinberg, X-linked adrenoleuko- dystrophy: ABCD1 de novo mutations and mosaicism, Mol. Genet. Metab. 104 (2011) 160-166.
Not checked in the free run.
May combine two claims.
PremisecitationAbcd1 knockout mice display oxidative damage to proteins in the spinal cord already at the age of 3 months, long before the first neuropathological lesions in the spinal cord at around 16 months of age and clinical signs at 20 months of age.
“Interestingly, Abcd1 knockout mice display oxidative damage to proteins in the spinal cord already at the age of 3 months [39], long before the first neuropathological lesions in the spinal cord at around 16 months of age and clinical signs at 20 months of age [40].”
Quote in the paperSubstantial claim0 of 2 sources checked- cites [39] 39. S. Fourcade, J. Lopez-Erauskin, J. Galino, C. Duval, A. Naudi, M. Jove, S. Kemp, F. Villarroya, I. Ferrer, R. Pamplona, M. Portero-Otin, A. Pujol, Early oxidative dam- age underlying neurodegeneration in X-adrenoleukodystrophy, Hum. Mol. Genet. 17 (2008) 1762-1773. source
Not checked in the free run.
- cites [40] 40. A. Pujol, C. Hindelang, N. Callizot, U. Bartsch, M. Schachner, J.L. Mandel, Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy, Hum. Mol. Genet. 11 (2002) 499-505. source
Not checked in the free run.
Probably not a substantial claim: may not pass S3 (load-bearing).
InterpretationreasoningThe small sample size in rare diseases is a general problem.
“This is a general problem associated with rare diseases in which the sample size is relatively small, but nevertheless it likely provides evidence for a possible involvement in the molecular mechanism of X-ALD.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationMany multifactorial diseases involve many rare genetic variant interactions.
“This is the experience that is observed in many multifactorial diseases [81].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [81] 81. W. Bodmer, C. Bonilla, Common and rare variants in multifactorial susceptibility to common diseases, Nat. Genet. 40 (2008) 695-701. source
Not checked in the free run.
Classified as probably not a substantial claim.
InterpretationreasoningIt is possible that the primary consequence of the loss of ALDP function in oligodendrocytes triggers progressive axonal damage without significant demyelination.
“It is therefore possible that the primary consequence of the loss of ALDP function in oligodendrocytes triggers progressive axonal damage without significant demyelination.”
Quote in the paperSubstantial claimMay combine two claims.
PremisecitationThe Abcd1 knockout mouse develops a phenotype that resembles AMN at 18-20 months of age, but no cerebral demyelination.
“The Abcd1 knockout mouse develops a phenotype that resembles AMN at 18-20 months of age, but no cerebral demyelination [40].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [40] 40. A. Pujol, C. Hindelang, N. Callizot, U. Bartsch, M. Schachner, J.L. Mandel, Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy, Hum. Mol. Genet. 11 (2002) 499-505. source
Not checked in the free run.
May combine two claims.
PremisecitationA deficiency in ALDP impairs peroxisomal VLCFA beta-oxidation but also raises cytosolic levels of C24:0/C26:0-CoA which are substrate for further elongation by ELOVL1.
“A deficiency in ALDP impairs peroxisomal VLCFA beta-oxidation but also raises cytosolic levels of C24:0/C26:0-CoA which are substrate for further elongation by ELOVL1 (adapted from[51]).”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [51] 51. S. Kemp, R. Wanders, Biochemical aspects of X-linked adrenoleukodystrophy, Brain Pathol. 20 (2010) 831-837. source
Not checked in the free run.
Probably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationA decrease in plasmalogen levels could alter the transport of cholesterol, which is an essential component of the myelin sheath.
“A decrease in plasmalogen levels could alter the transport of cholesterol which is an essential component of the myelin sheath [96], it could increase the oxidation of cholesterol in phospholipid bilayers [97] which in turn may result in cytotoxic, oxidative and inflammatory activities [98] and increased oxidative stress in glial cells [99].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [96] 96. N.J. Munn, E. Arnio, D. Liu, R.A. Zoeller, L. Liscum, Deficiency in ethanolamine plas- malogen leads to altered cholesterol transport, J. Lipid Res. 44 (2003) 182-192.
Not checked in the free run.
Classified as probably not a substantial claim.
PremisecitationA decrease in plasmalogen levels could increase the oxidation of cholesterol in phospholipid bilayers.
“A decrease in plasmalogen levels could alter the transport of cholesterol which is an essential component of the myelin sheath [96], it could increase the oxidation of cholesterol in phospholipid bilayers [97] which in turn may result in cytotoxic, oxidative and inflammatory activities [98] and increased oxidative stress in glial cells [99].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [97] 97. R. Maeba, N. Ueta, Ethanolamine plasmalogens prevent the oxidation of choles- terol by reducing the oxidizability of cholesterol in phospholipid bilayers, J. Lipid Res. 44 (2003) 164-171.
Not checked in the free run.
Probably not a substantial claim: may not pass S3 (load-bearing).
InterpretationreasoningPolymorphisms in genes involved in the different pathways that promote or counteract this pro-inflammatory stage may also play an important role in advancing or preventing the transition from a proinflammatory to a full-blown neuroinflammatory stage.
“Polymorphisms in genes involved in the different pathways that promote or counteract this pro-inflammatory stage may also play an important role in advancing or preventing the transition from a proinflammatory to a full-blown neuroinflammatory stage.”
Quote in the paperNot a substantial claim
The paper relies on this without support.
Not all X-ALD males develop cerebral demyelination with severe neuroinflammation.
“Not all X-ALD males develop cerebral demyelination with severe neuroinflammation.”
The paper relies on this without support.
There is an absence of general genotype-phenotype correlation in X-ALD.
“Because of the absence of general genotype-phenotype correlation in X-ALD, it is likely that a combination of genetic, epigenetic and environmental factors play an essential role as triggers for the development of cerebral ALD.”
The paper relies on this without support.
There is no correlation between the levels of VLCFA in plasma or fibroblasts and the X-ALD phenotype.
“Even though there is no correlation between the levels of VLCFA in plasma or fibroblasts and the X-ALD phenotype, VLCFA are highly elevated in myelinspecific lipid species [18,[26][27][28][29].”
The paper relies on this without support.
A significant number of heterozygous women develop AMN in adulthood.
“A significant number of heterozygous women develop AMN in adulthood and prenatal diagnosis of a female fetus to establish whether the fetus has X-ALD may be offered on an individual basis.”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
X-ALD is primarily caused by mutations in the ABCD1 gene located on the X chromosome (Xq28), which spans 19.9 kb and 10 exons.
“X-ALD is primarily caused by mutations in the ABCD1 gene located on the X chromosome (Xq28), which spans for 19.9 kb and 10 exons (11).”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [11]
Section 3, “Genetic aspects of X-ALD” (page not available), identifies ABCD1 mutations as the genetic cause of X-ALD, describes X-linked inheritance, and states that the gene covers 19.9 kb and contains 10 exons. Our copy does not specify the Xq28 location, so that part of the claim is not supported by this source. (LLM, conf=0.88)
Experimental — accuracy not yet measuredIn approximately 85% of individuals with clinical symptoms, brain MRI shows a characteristic pattern of symmetric confluent hyperintense lesions in T2 and FLAIR images, usually first appearing in the parieto-occipital region of both hemispheres.
“In approximately 85% of the individuals with clinical symptoms, brain magnetic resonance imaging (MRI) shows a characteristic pattern of symmetric confluent hyperintense lesions in T2 and FLAIR images, usually first appearing in the parieto-occipital region of both hemispheres.”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [11]
Section 1.2 (page unavailable) describes cerebral ALD lesions as hyperintense on T2 and FLAIR MRI and says they usually begin in the corpus callosum before extending into parieto-occipital or, alternatively, frontal white matter. It does not give an 85% figure for symptomatic individuals or describe the lesions as necessarily symmetric and confluent; it explicitly says they can be asymmetric. (LLM, conf=0.88)
Experimental — accuracy not yet measuredCerALD is the most severe form of X-ALD, typically affecting young boys between 4 and 8 years of age, and is characterized by progressive inflammatory demyelination in the cerebral white matter.
“This is the most severe form of X-ALD, typically affecting young boys (typically between 4 and 8 years of age). It is characterized by progressive inflammatory demyelination in the cerebral white matter.”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [11]
Section 1.2 calls cerebral ALD the most severe X-ALD phenotype and describes demyelination of cerebral white matter that can become rapidly progressive and inflammatory. It gives ages 5–12 years, not 4–8, and notes that lesions are initially noninflammatory. (LLM, conf=0.88)
Experimental — accuracy not yet measuredAMN is the most common form of adult-onset X-ALD.
“AMN is the most common form of adult-onset X-ALD.”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [11]
AMN primarily affects hemizygous males, although heterozygous females can also be affected to a lesser extent, with similar but later progression usually after the 4th or 5th decade of life.
“It primarily affects hemizygous males, although heterozygous females can also be affected to a lesser extent, with a similar but later progression of symptoms (usually after the 4th-or 5th decade of life).”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [11]
AMN is characterized by spinal cord involvement, leading to progressive motor dysfunction and sensory deficits.
“It is characterized by spinal cord involvement, leading to progressive motor dysfunction and sensory deficits.”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [11]
Progression of these lesions is unpredictable; it can be severe and rapid in the childhood cerebral form and milder and slower in adult-onset forms.
“The progression of these lesions is unpredictable; it can be severe and rapid in the childhood cerebral form; milder and slower in forms with adult onset (11, 22).”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [11]
X-ALD does not involve any developmental defect or delay but is characterized by remarkable clinical heterogeneity, with main phenotypes AMN and CALD.
“Although X-ALD does not involve any developmental defect or delay, it is characterized by remarkable clinical heterogeneity. The main phenotypes are adrenomyeloneuropathy (AMN) and cerebral ALD (CALD), the devastating inflammatory and demyelinating form of X-ALD [120].”
From Peroxisomes in brain development and function (2016) · cites this paper as [120]
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101 · see citing works
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928 · see citing works
Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
Cartier, N., Hacein-Bey-Abina, S., Bartholomae, C. C., Veres, G., Schmidt, M., Kutschera, I., Vidaud, M., Abel, U., Dal-Cortivo, L., Caccavelli, L., et al. (2009) · Science · doi:10.1126/science.1171242 · Cited by 1,508 · see citing works
Self-citationPutative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
Mosser, J., Douar, A.-M., Sarde, C.-O., Kioschis, P., Feil, R., Moser, H., Poustka, A.-M., Mandel, J.-L., & Aubourg, P. (1993) · Nature · doi:10.1038/361726a0 · Cited by 1,202 · see citing works
Self-citationCommon and rare variants in multifactorial susceptibility to common diseases
Bodmer, W., & Bonilla, C. (2008) · Nature Genetics · doi:10.1038/ng.f.136 · Cited by 1,131 · see citing works
Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination
Lappe-Siefke, C., Goebbels, S., Gravel, M., Nicksch, E., Lee, J., Braun, P. E., Griffiths, I. R., & Nave, K.-A. (2003) · Nature Genetics · doi:10.1038/ng1095 · Cited by 1,036 · see citing works
Fatty acid elongases in mammals: their regulation and roles in metabolism
JAKOBSSON, A., WESTERBERG, R., & JACOBSSON, A. (2006) · Progress in Lipid Research · doi:10.1016/j.plipres.2006.01.004 · Cited by 936 · see citing works
Axonal Swellings and Degeneration in Mice Lacking the Major Proteolipid of Myelin
Griffiths, I., Klugmann, M., Anderson, T., Yool, D., Thomson, C., Schwab, M. H., Schneider, A., Zimmermann, F., McCulloch, M., Nadon, N., et al. (1998) · Science · doi:10.1126/science.280.5369.1610 · Cited by 889 · see citing works
Fatty acid synthase, a proficient multifunctional enzyme
Wakil, S. J. (1989) · Biochemistry · doi:10.1021/bi00437a001 · Cited by 820 · see citing works
Moser, H. W., Mahmood, A., & Raymond, G. V. (2007) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0421 · Cited by 663 · see citing works
Qualitative alteration in substrate specificity of mitochondrial monoamine oxidase in brain
Moskvitina, T. A., Kamyshanskaya, N. S., Kaverina, L. P., & Gorkin, V. Z. (1976) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1976.tb04462.x · Cited by 440 · see citing works
Functions and biosynthesis of plasmalogens in health and disease
Brites, P., Waterham, H. R., & Wanders, R. J. A. (2004) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2003.12.010 · Cited by 415 · see citing works
Moser, H. (1981) · doi:10.1212/wnl.31.10.1241 · Cited by 396 · see citing works
Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes
Kassmann, C. M., Lappe-Siefke, C., Baes, M., Brügger, B., Mildner, A., Werner, H. B., Natt, O., Michaelis, T., Prinz, M., Frahm, J., et al. (2007) · Nature Genetics · doi:10.1038/ng2070 · Cited by 357 · see citing works
Singh, I., Moser, A. E., Goldfischer, S. L., & Moser, H. W. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.13.4203 · Cited by 348 · see citing works
Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., & Moser, H. W. (2001) · Human Mutation · doi:10.1002/humu.1227 · Cited by 332 · see citing works
Self-citationHettema, E. H., van Roermund, C. W., Distel, B., van den Berg, M., Vilela, C., Rodrigues‐Pousada, C., Wanders, R. J., & Tabak, H. F. (1996) · The EMBO Journal · doi:10.1002/j.1460-2075.1996.tb00755.x · Cited by 323 · see citing works
Adrenoleukodystrophy: a scoring method for brain MR observations.
(1994) · PubMed Central · Cited by 321 · see citing works
Véjux, A., & Lizard, G. (2009) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2009.02.006 · Cited by 291 · see citing works
Miller, W. P., Rothman, S. M., Nascene, D., Kivisto, T., DeFor, T. E., Ziegler, R. S., Eisengart, J., Leiser, K., Raymond, G., Lund, T. C., et al. (2011) · Blood · doi:10.1182/blood-2011-01-329235 · Cited by 290 · see citing works
POWERS, J. M., LIU, Y., MOSER, A. B., & MOSER, H. W. (1992) · Journal of Neuropathology and Experimental Neurology · doi:10.1097/00005072-199211000-00007 · Cited by 265 · see citing works
Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA: A Systematic Review and Meta-analysis
Devaney, S. A., Palomaki, G. E., Scott, J. A., & Bianchi, D. W. (2011) · JAMA · doi:10.1001/jama.2011.1114 · Cited by 247 · see citing works
The fatty acid chain elongation system of mammalian endoplasmic reticulum
Cinti, D. L., Cook, L. S., Nagi, M. N., & Suneja, S. K. (1992) · Progress in Lipid Research · doi:10.1016/0163-7827(92)90014-a · Cited by 241 · see citing works
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl–CoA esters
van Roermund, C. W. T., Visser, W. F., IJlst, L., van Cruchten, A., Boek, M., Kulik, W., Waterham, H. R., & Wanders, R. J. A. (2008) · The FASEB Journal · doi:10.1096/fj.08-110866 · Cited by 233 · see citing works
Pujol, A. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.5.499 · Cited by 214 · see citing works
Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy
Fourcade, S., Lopez-Erauskin, J., Galino, J., Duval, C., Naudi, A., Jove, M., Kemp, S., Villarroya, F., Ferrer, I., Pamplona, R., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn085 · Cited by 214 · see citing works
Self-citationAdrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy
Powers, J. M., DeCiero, D. P., Ito, M., Moser, A. B., & Moser, H. W. (2000) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/59.2.89 · Cited by 204 · see citing works
Ho, J. K., Moser, H., Kishimoto, Y., & Hamilton, J. A. (1995) · Journal of Clinical Investigation · doi:10.1172/jci118182 · Cited by 199 · see citing works
X-linked adrenoleukodystrophy: Genes, mutations, and phenotypes
Smith, K. D., Kemp, S., Braiterman, L. T., Lu, J.-F., Wei, H.-M., Geraghty, M., Stetten, G., Bergin, J. S., Pevsner, J., & Watkins, P. A. (1999) · Neurochemical Research · doi:10.1023/a:1022535930009 · Cited by 190 · see citing works
Self-citationHein, S., Schonfeld, P., Kahlert, S., & Reiser, G. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn066 · Cited by 180 · see citing works
Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?
Eichler, F. S., Ren, J., Cossoy, M., Rietsch, A. M., Nagpal, S., Moser, A. B., Frosch, M. P., & Ransohoff, R. M. (2008) · Annals of Neurology · doi:10.1002/ana.21391 · Cited by 178 · see citing works
Hubbard, W. C., Moser, A. B., Liu, A. C., Jones, R. O., Steinberg, S. J., Lorey, F., Panny, S. R., Vogt Jr., R. F., Macaya, D., & Turgeon, C. T. (2009) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2009.03.010 · Cited by 177 · see citing works
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy
Ofman, R., Dijkstra, I. M. E., van Roermund, C. W. T., Burger, N., Turkenburg, M., van Cruchten, A., van Engen, C. E., Wanders, R. J. A., & Kemp, S. (2010) · EMBO Molecular Medicine · doi:10.1002/emmm.201000061 · Cited by 170 · see citing works
Self-citationWhitcomb, R. W., Linehan, W. M., & Knazek, R. A. (1988) · Journal of Clinical Investigation · doi:10.1172/jci113292 · Cited by 168 · see citing works
Hashmi, M., Stanley, W. S., & Singh, I. (1986) · FEBS Letters · doi:10.1016/0014-5793(86)80256-3 · Cited by 162 · see citing works
Netik, A., Forss-Petter, S., Holzinger, A., Molzer, B., Unterrainer, G., & Berger, J. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.907 · Cited by 148 · see citing works
Self-citationEichler, E. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.7.991 · Cited by 143 · see citing works
Yatsenko, A. N., Shroyer, N. F., Lewis, R. A., & Lupski, J. R. (2001) · Human Genetics · doi:10.1007/s004390100493 · Cited by 136 · see citing works
Antioxidants halt axonal degeneration in a mouse model of X‐adrenoleukodystrophy
López‐Erauskin, J., Fourcade, S., Galino, J., Ruíz, M., Schlüter, A., Naudí, A., Jové, M., Portero‐Otín, M., Pamplona, R., Ferrer, I., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22363 · Cited by 135 · see citing works
Singh, I., Moser, H. W., Moser, A. B., & Kishimoto, Y. (1981) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(81)80142-8 · Cited by 132 · see citing works
Berger, J., Molzer, B., Fae, I., & Bernheimer, H. (1994) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1994.2855 · Cited by 126 · see citing works
Self-citationCerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype
Korenke, G. C., Wilichowski, E., Hunneman, D. H., Hanefeld, F., Fuchs, S., Krasemann, E., & Doerr, H. G. (1996) · Annals of Neurology · doi:10.1002/ana.410400221 · Cited by 117 · see citing works
Verleur, N., Hettema, E. H., Van Roermund, C. W. T., Tabak, H. F., & Wanders, R. J. A. (1997) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1997.00657.x · Cited by 117 · see citing works
Biochemical aspects of X-linked adrenoleukodystrophy
Kemp, S., & Wanders, R. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00391.x · Cited by 116 · see citing works
Self-citationExpression of the adrenoleukodystrophy protein in the human and mouse central nervous system
Fouquet, F., Zhou, J. M., Ralston, E., Murray, K., Troalen, F., Magal, E., Robain, O., Dubois-Dalcq, M., & Aubourg, P. (1997) · Neurobiology of Disease · doi:10.1006/nbdi.1997.0127 · Cited by 115 · see citing works
Self-citationKemp, S., Theodoulou, F. L., & Wanders, R. J. (2011) · British Journal of Pharmacology · doi:10.1111/j.1476-5381.2011.01435.x · Cited by 115 · see citing works
Self-citationDeficiency in ethanolamine plasmalogen leads to altered cholesterol transport
Munn, N. J., Arnio, E., Liu, D., Zoeller, R. A., & Liscum, L. (2003) · Journal of Lipid Research · doi:10.1194/jlr.m200363-jlr200 · Cited by 115 · see citing works
Jia, Z., Moulson, C. L., Pei, Z., Miner, J. H., & Watkins, P. A. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m700568200 · Cited by 113 · see citing works
Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy
Boehm, C. D., Cutting, G. R., Lachtermacher, M. B., Moser, H. W., & Chong, S. S. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1998.2779 · Cited by 112 · see citing works
PEROXISOMAL βT‐OXIDATION OF LONG FATTY ACIDS: EFFECTS OF HIGH FAT DIETS*
Osmundsen, H. (1982) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1982.tb21404.x · Cited by 112 · see citing works
Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients
Jang, J., Kang, H., Kim, H., Kim, J. Y., Huh, Y. J., Kim, D., Yoo, J., Lee, J., Lim, B., Lee, J., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22486 · Cited by 109 · see citing works
HUBBARD, W., MOSER, A., TORTORELLI, S., LIU, A., JONES, D., & MOSER, H. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.05.001 · Cited by 108 · see citing works
Cartier, N., Lopez, J., Moullier, P., Rocchiccioli, F., Rolland, M. O., Jorge, P., Mosser, J., Mandel, J. L., Bougnères, P. F., & Danos, O. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.5.1674 · Cited by 105 · see citing works
Theda, C., Moser, A. B., Powers, J. M., & Moser, H. W. (1992) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(92)90028-j · Cited by 99 · see citing works
Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
Kemp, S., Valianpour, F., Denis, S., Ofman, R., Sanders, R.-J., Mooyer, P., Barth, P. G., & Wanders, R. J. A. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.09.015 · Cited by 97 · see citing works
Self-citationMoser, H. W. (1996) · Molecular and Chemical Neuropathology · doi:10.1007/bf02815041 · Cited by 96 · see citing works
Knazek, R. A., Rizzo, W. B., Schulman, J. D., & Dave, J. R. (1983) · Journal of Clinical Investigation · doi:10.1172/jci110963 · Cited by 94 · see citing works
Current and Future Pharmacological Treatment Strategies in X‐Linked Adrenoleukodystrophy
Berger, J., Pujol, A., Aubourg, P. R., & Forss‐Petter, S. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00393.x · Cited by 90 · see citing works
Self-citationHead trauma can initiate the onset of adreno-leukodystrophy
Raymond, G. V., Seidman, R., Monteith, T. S., Kolodny, E., Sathe, S., Mahmood, A., & Powers, J. M. (2010) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2009.11.005 · Cited by 90 · see citing works
McGuinness, M. C., Powers, J. M., Bias, W. B., Schmeckpeper, B. J., Segal, A. H., Gowda, V. C., Wesselingh, S. L., Berger, J., Griffin, D. E., & Smith, K. D. (1997) · Journal of Neuroimmunology · doi:10.1016/s0165-5728(97)00020-9 · Cited by 89 · see citing works
Self-citationPlasmalogen deficiency in cerebral adrenoleukodystrophy and its modulation by lovastatin
Khan, M., Singh, J., & Singh, I. (2008) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2008.05513.x · Cited by 86 · see citing works
Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M., & Aubourg, P. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi140 · Cited by 86 · see citing works
Self-citationGalino, J., Ruíz, M., Fourcade, S., Schlüter, A., López‐Erauskin, J., Guilera, C., Jové, M., Naudí, A., García‐Arumí, E., Andreu, A. L., et al. (2011) · Antioxidants and Redox Signaling · doi:10.1089/ars.2010.3877 · Cited by 85 · see citing works
Maeba, R., & Ueta, N. (2003) · Journal of Lipid Research · doi:10.1194/jlr.m200340-jlr200 · Cited by 84 · see citing works
Brain gangliosides in adrenoleukodystrophy1
Igarashi, M., Belchjs, D., & Suzuki, K. (1976) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1976.tb01593.x · Cited by 81 · see citing works
Kishimoto, Y., Moser, H. W., Kawamura, N., Platt, M., Pallante, S. L., & Fenselau, C. (1980) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(80)91182-1 · Cited by 79 · see citing works
Nerve conduction studies in adrenomyeloneuropathy
Chaudhry, V, Moser, H. W., & Cornblath, D. R. (1996) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.61.2.181 · Cited by 73 · see citing works
TSUJI, S., SANO, T., ARIGA, T., & MIYATAKE, T. (1981) · The Journal of Biochemistry · doi:10.1093/oxfordjournals.jbchem.a133578 · Cited by 73 · see citing works
Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy
Schlüter, A., Espinosa, L., Fourcade, S., Galino, J., López, E., Ilieva, E., Morató, L., Asheuer, M., Cook, T., McLaren, A., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/ddr536 · Cited by 72 · see citing works
Self-citationHöftberger, R., Kunze, M., Weinhofer, I., Aboul-Enein, F., Voigtländer, T., Oezen, I., Amann, G., Bernheimer, H., Budka, H., & Berger, J. (2007) · Neurobiology of Disease · doi:10.1016/j.nbd.2007.07.007 · Cited by 69 · see citing works
Self-citationLipid and fatty acid composition of brain tissue from adrenoleukodystrophy patients
Wilson, R., & Sargent, J. R. (1993) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1993.tb03567.x · Cited by 67 · see citing works
Histochemical characteristics of the striated inclusions of adrenoleukodystrophy
Johnson, A. B., Schaumburg, H. H., & Powers, J. M. (1976) · Journal of Histochemistry & Cytochemistry · doi:10.1177/24.6.59773 · Cited by 66 · see citing works
Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy
Fatemi, A., Smith, S. A., Dubey, P., Zackowski, K. M., Bastian, A. J., van Zijl, P. C., Moser, H. W., Raymond, G. V., & Golay, X. (2005) · Neurology · doi:10.1212/01.wnl.0000164458.02141.06 · Cited by 64 · see citing works
Oligodendroglial impact on axonal function and survival – a hypothesis
Kassmann, C. M., & Nave, K. (2008) · Current Opinion in Neurology · doi:10.1097/wco.0b013e328300c71f · Cited by 63 · see citing works
Predictions of a 2‐locus model for disease heterogeneity: Application to adrenoleukodystrophy
Maestri, N. E., & Beaty, T. H. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320440509 · Cited by 63 · see citing works
Fatty Acid Composition of Human Myelin Proteolipid Protein in Peroxisomal Disorders
Bizzozero, O. A., Zuñiga, G., & Lees, M. B. (1991) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1991.tb02003.x · Cited by 61 · see citing works
Rizzo, W. B., Avigan, J., Chemke, J., & Schulman, J. D. (1984) · Neurology · doi:10.1212/wnl.34.2.163 · Cited by 60 · see citing works
AUBOURG, P., & MANDEL, J. (1996) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1996.tb18637.x · Cited by 58 · see citing works
Self-citationX-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism
Wang, Y., Busin, R., Reeves, C., Bezman, L., Raymond, G., Toomer, C. J., Watkins, P. A., Snowden, A., Moser, A., Naidu, S., et al. (2011) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.05.016 · Cited by 58 · see citing works
Brown, F. R., Duyn, M. A. V., Moser, A. B., Schulman, J. D., Rizzo, W. B., Snyder, R. D., Murphy, J. V., Kamoshita, S., Migeon, C. J., & Moser, H. W. (1982) · PubMed · Cited by 56 · see citing works
Adrenoleukodystrophy: Clinical and biochemical manifestations in carriers
O'Neill, B. P., Moser, H. W., Saxena, K. M., & Marmion, L. C. (1984) · Neurology · doi:10.1212/wnl.34.6.798 · Cited by 56 · see citing works
Smith, S. A., Golay, X., Fatemi, A., Mahmood, A., Raymond, G. V., Moser, H. W., van Zijl, P. C. M., & Stanisz, G. J. (2009) · Magnetic Resonance in Medicine · doi:10.1002/mrm.21827 · Cited by 53 · see citing works
Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes
Di Rocco, M., Doria‐Lamba, L., & Caruso, U. (2001) · Annals of Neurology · doi:10.1002/ana.1220 · Cited by 45 · see citing works
Zhang, X., De Marcos Lousa, C., Schutte-Lensink, N., Ofman, R., Wanders, R. J., Baldwin, S. A., Baker, A., Kemp, S., & Theodoulou, F. L. (2011) · Biochemical Journal · doi:10.1042/bj20110249 · Cited by 43 · see citing works
Self-citationAdrenoleukodystrophy: The Restoration of Peroxisomal β-Oxidaton by Transfection of Normal cDNA
Shinnoh, N., Yamada, T., Yoshimura, T., Furuya, H., Yoshida, Y., Suzuki, Y., Shimozawa, N., Orii, T., & Kobayashi, T. (1995) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1995.1733 · Cited by 43 · see citing works
Adrenocortical Atrophy and Diffuse Cerebral Sclerosis
Forsyth, C. C., Forbes, M., & Cumings, J. N. (1971) · Archives of Disease in Childhood · doi:10.1136/adc.46.247.273 · Cited by 40 · see citing works
Diffusion tensor–based imaging reveals occult abnormalities in adrenomyeloneuropathy
Dubey, P., Fatemi, A., Huang, H., Nagae‐Poetscher, L., Wakana, S., Barker, P. B., van Zijl, P., Moser, H. W., Mori, S., & Raymond, G. V. (2005) · Annals of Neurology · doi:10.1002/ana.20643 · Cited by 40 · see citing works
Kemp, S., Valianpour, F., Mooyer, P. A. W., Kulik, W., & Wanders, R. J. A. (2004) · Clinical Chemistry · doi:10.1373/clinchem.2004.038539 · Cited by 40 · cited 3× · see citing works
“peroxisomal beta-oxidation enzymes, such as acyl-CoA oxidase (AOX) deficiency and bifunctional protein (DBP) deficiency, no D3-C16:0 could be detected [23].”
Self-citationSeven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy
Ratai, E., Kok, T., Wiggins, C., Wiggins, G., Grant, E., Gagoski, B., O’Neill, G., Adalsteinsson, E., & Eichler, F. (2008) · Archives of Neurology · doi:10.1001/archneur.65.11.1488 · Cited by 37 · see citing works
Matsukawa, T., Asheuer, M., Takahashi, Y., Goto, J., Suzuki, Y., Shimozawa, N., Takano, H., Onodera, O., Nishizawa, M., Aubourg, P., et al. (2011) · neurogenetics · doi:10.1007/s10048-010-0253-6 · Cited by 36 · see citing works
Self-citationX-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype
Maier, E. M., Mayerhofer, P. U., Asheuer, M., Köhler, W., Rothe, M., Muntau, A. C., Roscher, A. A., Holzinger, A., Aubourg, P., & Berger, J. (2008) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2008.09.092 · Cited by 34 · cited 1× · see citing works
“However, sequence and segregation analyses of the ABCD2 gene in a large X-ALD family with different phenotypes, as well as two independent association studies of polymorphisms and clinical phenotypes excluded ABCD2 as a major modifier locus in X-ALD [73,74].”
Self-citationSemmler, A., Bao, X., Cao, G., Köhler, W., Weller, M., Aubourg, P., & Linnebank, M. (2009) · Journal of Neurology · doi:10.1007/s00415-009-5114-6 · Cited by 30 · see citing works
Self-citationThe correlation between biochemical and histopathological findings in adrenoleukodystrophy
Reinecke, C. J., Knoll, D. P., Pretorius, P. J., Steyn, H. S., & Simpson, R. H. W. (1985) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(85)90184-4 · Cited by 29 · see citing works
Melhem, E. R., Barker, P. B., Raymond, G. V., & Moser, H. W. (1999) · American Journal of Roentgenology · doi:10.2214/ajr.173.6.10584804 · Cited by 29 · see citing works
Cysteine-108 is an acylation site in myelin proteolipid protein
Bizzozero, O. A., Good, L. K., & Evans, J. E. (1990) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(90)91284-y · Cited by 28 · see citing works
Topography of Rat Hepatic Microsomal Enzymatic Components of the Fatty Acid Chain Elongation System
Osei, P., Suneja, S. K., Laguna, J. C., Nagi, M. N., Cook, L. S., Prasad, M. R., & Cinti, D. L. (1989) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)83507-4 · Cited by 27 · see citing works
Dvoráková, L., Štorkánová, G., Unterrainer, G., Hujová, J., Kmoch, S., Zeman, J., Hrebícek, M., & Berger, J. (2001) · Human Mutation · doi:10.1002/humu.1149 · Cited by 23 · see citing works
Self-citationMethionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy
Linnebank, M., Kemp, S., Wanders, R. J. A., Kleijer, W. J., van der Sterre, M. L. T., Gärtner, J., Fliessbach, K., Semmler, A., Sokolowski, P., Köhler, W., et al. (2006) · Neurology · doi:10.1212/01.wnl.0000196491.42058.6f · Cited by 22 · see citing works
Self-citationSchomburg, D., & Stephan, D. (1996) · Springer eBooks · doi:10.1007/978-3-642-61030-1_217 · Cited by 22 · see citing works
SOD2 as a potential modifier of X-linked adrenoleukodystrophy clinical phenotypes
Brose, R. D., Avramopoulos, D., & Smith, K. D. (2012) · Journal of Neurology · doi:10.1007/s00415-011-6371-8 · Cited by 21 · see citing works
CD1 Gene Polymorphisms and Phenotypic Variability in X-Linked Adrenoleukodystrophy
Barbier, M., Sabbagh, A., Kasper, E., Asheuer, M., Ahouansou, O., Pribill, I., Forss-Petter, S., Vidaud, M., Berger, J., & Aubourg, P. (2012) · PLoS ONE · doi:10.1371/journal.pone.0029872 · Cited by 18 · see citing works
Self-citationAssociation of X-Linked Adrenoleukodystrophy with HLA DRB1 Alleles
Berger, J., Bernheimer, H., Fae, I., Braun, A., Roscher, A., Molzer, B., & Fischer, G. (1995) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1995.2643 · Cited by 16 · see citing works
Self-citationEfferent and afferent evoked potentials in patients with adrenomyeloneuropathy
Matsumoto, H., Hanajima, R., Terao, Y., Hamada, M., Yugeta, A., Shirota, Y., Yuasa, K., Satō, F., Matsukawa, T., Takahashi, Y., et al. (2009) · Clinical Neurology and Neurosurgery · doi:10.1016/j.clineuro.2009.11.005 · Cited by 15 · see citing works
Metaanálisis del diagnóstico y tratamiento de las fístulas aorto-entéricas
Escudero, J. R., Llagostera, S., González, E., de Vicente, J. C., Seminario, I., & Viver, E. (1997) · The American Journal of Human Genetics · Cited by 14 · see citing works
Anomalies cérébrales subtiles de l’Adrénomyéloneuropathie
Teriitehau, C., Adamsbaum, C., Merzoug, V., Kalifa, G., Tourbah, A., & Aubourg, P. (2007) · Journal de Radiologie · doi:10.1016/s0221-0363(07)89902-1 · Cited by 10 · see citing works
Self-citationRole for peroxisome proliferator-activated receptor-gamma in Alzheimer's disease.
van Geel (2001) · Open Repository and Bibliography (University of Luxembourg) · doi:10.1002/1531-8249(20010201)49:2 · Cited by 7 · see citing works
Flagged first, then by citations
1 of the 108 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- Smith, 1991, A genetic basis for the multiple phenotypes of X-linked adrenoleukodystrophy, Am. J. Hum. Genet., 49, 165
Cited by
Sorted by citations
Gene therapy returns to centre stage
Naldini, L. (2015) · Nature · doi:10.1038/nature15818 · Cited by 1,184 · see citing works
Charmandari, E., Nicolaides, N. C., & Chrousos, G. P. (2014) · The Lancet · doi:10.1016/s0140-6736(13)61684-0 · Cited by 644 · see citing works
Very long-chain fatty acids: elongation, physiology and related disorders
Kihara, A. (2012) · The Journal of Biochemistry · doi:10.1093/jb/mvs105 · Cited by 441 · see citing works
Human disorders of peroxisome metabolism and biogenesis
Waterham, H. R., Ferdinandusse, S., & Wanders, R. J. A. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.11.015 · Cited by 368 · see citing works
Metabolism of Very Long-Chain Fatty Acids: Genes and Pathophysiology
Sassa, T., & Kihara, A. (2014) · Biomolecules & Therapeutics · doi:10.4062/biomolther.2014.017 · Cited by 302 · see citing works
Role of ABC transporters in lipid transport and human disease
Tarling, E. J., Vallim, T. Q. D. A., & Edwards, P. A. (2013) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2013.01.006 · Cited by 301 · see citing works
Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history
Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J., & Engelen, M. (2016) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2016.90 · Cited by 275 · see citing works
Self-citationLiu, X. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-7647-4_2 · Cited by 263 · see citing works
The Axon-Myelin Unit in Development and Degenerative Disease
Stassart, R. M., Möbius, W., Nave, K.-A., & Edgar, J. M. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00467 · Cited by 246 · see citing works
Kihara, A. (2016) · Progress in Lipid Research · doi:10.1016/j.plipres.2016.04.001 · Cited by 238 · see citing works
Pathophysiology of X-linked adrenoleukodystrophy
Berger, J., Forss-Petter, S., & Eichler, F. S. (2014) · Biochimie · doi:10.1016/j.biochi.2013.11.023 · Cited by 238 · see citing works
Self-citationMetabolic functions of peroxisomes in health and disease
Wanders, R. J. A. (2013) · Biochimie · doi:10.1016/j.biochi.2013.08.022 · Cited by 232 · see citing works
The physiological functions of human peroxisomes
Wanders, R. J. A., Baes, M., Ribeiro, D., Ferdinandusse, S., & Waterham, H. R. (2023) · Physiological Reviews · doi:10.1152/physrev.00051.2021 · Cited by 228 · see citing works
Liu, X. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-7647-4_3 · Cited by 224 · see citing works
Turk, B. R., Theda, C., Fatemi, A. S., & Moser, A. B. (2020) · International Journal of Developmental Neuroscience · doi:10.1002/jdn.10003 · Cited by 206 · see citing works
Detergent-free purification of ABC (ATP-binding-cassette) transporters
Gulati, S., Jamshad, M., Knowles, T. J., Morrison, K. A., Downing, R., Cant, N., Collins, R. F., Koenderink, J. B., Ford, R. C., Overduin, M., et al. (2014) · Biochemical Journal · doi:10.1042/bj20131477 · Cited by 196 · see citing works
Peroxisomes in brain development and function
Berger, J., Dorninger, F., Forss-Petter, S., & Kunze, M. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.12.005 · Cited by 194 · see citing works
Self-citationX-Linked Adrenoleukodystrophy: Pathogenesis and Treatment
Engelen, M., Kemp, S., & Poll-The, B.-T. (2014) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-014-0486-0 · Cited by 187 · see citing works
Self-citationWiesinger, C., Kunze, M., Regelsberger, G., Forss-Petter, S., & Berger, J. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.445445 · Cited by 145 · see citing works
Self-citationExpanded newborn screening by mass spectrometry: New tests, future perspectives
Ombrone, D., Giocaliere, E., Forni, G., Malvagia, S., & la Marca, G. (2015) · Mass Spectrometry Reviews · doi:10.1002/mas.21463 · Cited by 140 · see citing works
Berger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s49590 · Cited by 140 · see citing works
Self-citationThioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)
Prasad, R., Chan, L. F., Hughes, C. R., Kaski, J. P., Kowalczyk, J., Savage, M. O., Peters, C. J., Nathwani, N., Clark, A., Storr, H. L., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-3844 · Cited by 137 · see citing works
A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3
Ferdinandusse, S., Jimenez-Sanchez, G., Koster, J., Denis, S., Van Roermund, C. W., Silva-Zolezzi, I., Moser, A. B., Visser, W. F., Gulluoglu, M., Durmaz, O., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddu448 · Cited by 134 · see citing works
van Karnebeek, C., Shevell, M. I., Zschocke, J., Moeschler, J. B., & Stöckler, S. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.01.011 · Cited by 130 · see citing works
Vogel, B. H., Bradley, S. E., Adams, D. J., D'Aco, K., Erbe, R. W., Fong, C., Iglesias, A., Kronn, D., Levy, P., Morrissey, M., et al. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.02.002 · Cited by 123 · see citing works
Nury, T., Zarrouk, A., Mackrill, J. J., Samadi, M. H., Durand, P., Riedinger, J., Doria, M., Véjux, A., Limagne, E., Delmas, D., et al. (2015) · Steroids · doi:10.1016/j.steroids.2015.02.003 · Cited by 121 · see citing works
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Coutelier, M., Goizet, C., Dürr, A., Habarou, F., Morais, S., Dionne‐Laporte, A., Tao, F., Konop, J., Stoll, M., Charles, P., et al. (2015) · Brain · doi:10.1093/brain/awv143 · Cited by 110 · see citing works
Newborn Screening for X-Linked Adrenoleukodystrophy
Moser, A., Jones, R., Hubbard, W., Tortorelli, S., Orsini, J., Caggana, M., Vogel, B., & Raymond, G. (2016) · International Journal of Neonatal Screening · doi:10.3390/ijns2040015 · Cited by 106 · see citing works
Pathologic role of glial nitric oxide in adult and pediatric neuroinflammatory diseases
Ghasemi, M., & Fatemi, A. S. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.06.002 · Cited by 95 · see citing works
Jensen, T. L., Gøtzsche, C. R., & Woldbye, D. P. D. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.695937 · Cited by 85 · see citing works
Nury, T., Zarrouk, A., Ragot, K., Debbabi, M., Riedinger, J., Véjux, A., Aubourg, P. R., & Lizard, G. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.03.037 · Cited by 84 · see citing works
Self-citationNury, T., Yammine, A., Ghzaiel, I., Sassi, K., Zarrouk, A., Brahmi, F., Samadi, M. H., Rup-Jacques, S., Fasseur, D., de Barros, J.-P. P., et al. (2021) · Ageing Research Reviews · doi:10.1016/j.arr.2021.101324 · Cited by 84 · see citing works
Bile acids and neurological disease
Hurley, M. J., Bates, R., Macnaughtan, J., & Schapira, A. H. V. (2022) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2022.108311 · Cited by 82 · see citing works
Oxidative stress and adrenocortical insufficiency
Prasad, R., Kowalczyk, J. C., Meimaridou, E., Storr, H. L., & Metherell, L. (2014) · Journal of Endocrinology · doi:10.1530/joe-13-0346 · Cited by 82 · see citing works
Kühl, J.-S., Suarez, F., Gillett, G. T., Hemmati, P. G., Snowden, J. A., Stadler, M., Vuong, G. L., Aubourg, P., Köhler, W., & Arnold, R. (2017) · Brain · doi:10.1093/brain/awx016 · Cited by 78 · see citing works
Self-citationvan Geel, B. M., Poll‐The, B. T., Verrips, A., Boelens, J., Kemp, S., & Engelen, M. (2015) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-014-9797-1 · Cited by 78 · see citing works
Self-citationA report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy
Wiens, K., Berry, S. A., Choi, H., Gaviglio, A., Gupta, A., Hietala, A., Kenney‐Jung, D., Lund, T., Miller, W., Pierpont, E. I., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61171 · Cited by 75 · see citing works
Clinical Applications Involving CNS Gene Transfer
Kantor, B., McCown, T., Leone, P., & Gray, S. J. (2014) · Advances in Genetics · doi:10.1016/b978-0-12-800149-3.00002-0 · Cited by 74 · see citing works
A Review of X-linked Charcot-Marie-Tooth Disease
Wāng, Y., & Yin, F. (2015) · Journal of Child Neurology · doi:10.1177/0883073815604227 · Cited by 73 · see citing works
Weber, F. D., Wiesinger, C., Forss-Petter, S., Regelsberger, G., Einwich, A., Weber, W. H. A., Kohler, W., Stockinger, H., & Berger, J. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddt645 · Cited by 63 · see citing works
Self-citationSassa, T., Wakashima, T., Ohno, Y., & Kihara, A. (2014) · Journal of Lipid Research · doi:10.1194/jlr.m044586 · Cited by 70 · see citing works
Schönfeld, P., & Reiser, G. (2016) · Aging and Disease · doi:10.14336/ad.2015.0823 · Cited by 69 · see citing works
Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy
Gupta, A. O., Raymond, G., Pierpont, E. I., Kemp, S., McIvor, R. S., Rayannavar, A., Miller, B., Lund, T. C., & Orchard, P. J. (2022) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2022.2124857 · Cited by 67 · see citing works
Self-citationEvaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina
Lee, S., Clinard, K., Young, S. P., Rehder, C. W., Fan, Z., Calikoglu, A. S., Bali, D. S., Bailey, D. B., Gehtland, L. M., Millington, D. S., et al. (2020) · JAMA Network Open · doi:10.1001/jamanetworkopen.2019.20356 · Cited by 67 · see citing works
Mouse models for peroxisome biogenesis defects and β-oxidation enzyme deficiencies
Baes, M. I., & Veldhoven, P. P. V. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.03.003 · Cited by 66 · see citing works
Hepatic dysfunction in peroxisomal disorders
Baes, M. I., & Veldhoven, P. P. V. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.09.035 · Cited by 62 · see citing works
Peroxisomal Metabolite and Cofactor Transport in Humans
Chornyi, S., IJlst, L., van Roermund, C. W. T., Wanders, R. J. A., & Waterham, H. R. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.613892 · Cited by 61 · see citing works
Adrenoleukodystrophy: Guidance for adrenal surveillance in males identified by newborn screen
Regelmann, M. O., Kamboj, M. K., Miller, B. S., Nakamoto, J. M., Sarafoglou, K., Shah, S., Stanley, T. L., Marino, R., & Pediatric Endocrine Society Drug and Therapeutics/Rare Diseases Committee (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00920 · Cited by 61 · see citing works
Deficiency of ALADIN Impairs Redox Homeostasis in Human Adrenal Cells and Inhibits Steroidogenesis
Prasad, R., Metherell, L., Clark, A., & Storr, H. L. (2013) · Endocrinology · doi:10.1210/en.2013-1241 · Cited by 59 · see citing works
Functional characterisation of peroxisomal β‐oxidation disorders in fibroblasts using lipidomics
Herzog, K., Pras‐Raves, M. L., Ferdinandusse, S., Vervaart, M. A. T., Luyf, A. C. M., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R., & Vaz, F. M. (2018) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-017-0076-9 · Cited by 57 · see citing works
Lipids in the Physiopathology of Hereditary Spastic Paraplegias
Darios, F. D., Mochel, F., & Stévanin, G. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00074 · Cited by 56 · see citing works
Kumar, R., & Wassif, W. (2022) · Journal of Clinical Pathology · doi:10.1136/jclinpath-2021-207895 · Cited by 56 · see citing works
Pizcueta, P. M., Vergara, C., Emanuele, M., Vilalta, A., Rodríguez‐Pascau, L., & Martinell, M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24043201 · Cited by 55 · see citing works
Nury, T., Sghaier, R., Zarrouk, A., Ménétrier, F., Uzun, T., Leoni, V., Caccia, C., Meddeb, W., Namsi, A., Sassi, K., et al. (2018) · Biochimie · doi:10.1016/j.biochi.2018.07.009 · Cited by 54 · see citing works
The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
Ferdinandusse, S., Ebberink, M. S., Vaz, F. M., Waterham, H. R., & Wanders, R. J. A. (2016) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-016-9922-4 · Cited by 51 · see citing works
Endocrine Dysfunction in X-Linked Adrenoleukodystrophy
Burtman, E., & Regelmann, M. O. (2016) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2016.01.003 · Cited by 50 · see citing works
C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man
van de Beek, M.-C., Dijkstra, I. M. E., van Lenthe, H., Ofman, R., Goldhaber-Pasillas, D., Schauer, N., Schackmann, M., Engelen-Lee, J.-Y., Vaz, F. M., Kulik, W., et al. (2016) · PLOS ONE · doi:10.1371/journal.pone.0154597 · Cited by 48 · see citing works
Self-citationPathoetiology of multiple sclerosis: are we barking up the wrong tree?
Stys, P. K. (2013) · F1000Prime Reports · doi:10.12703/p5-20 · Cited by 46 · see citing works
Kleinecke, S., Richert, S., de Hoz, L., Brügger, B., Kungl, T., Asadollahi, E., Quintes, S., Blanz, J., McGonigal, R., Naseri, K., et al. (2017) · eLife · doi:10.7554/elife.23332 · Cited by 46 · see citing works
Glutathione imbalance in patients with X-linked adrenoleukodystrophy
Petrillo, S., Piemonte, F., Pastore, A., Tozzi, G., Aiello, C., Pujol, A., Cappa, M., & Bertini, E. (2013) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2013.05.009 · Cited by 45 · see citing works
Peroxisomal Disorders: A Review on Cerebellar Pathologies
Munter, S. D., Verheijden, S., Régal, L., & Baes, M. I. (2015) · Brain Pathology · doi:10.1111/bpa.12290 · Cited by 44 · see citing works
Wright, Z. J., & Bartel, B. (2020) · Nature Communications · doi:10.1038/s41467-020-20099-y · Cited by 43 · see citing works
Correnti, J. M., Juskeviciute, E., Swarup, A., & Hoek, J. B. (2014) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.00395.2013 · Cited by 42 · see citing works
Mallack, E. J., Turk, B. R., Yan, H., & Eichler, F. (2019) · Current Treatment Options in Neurology · doi:10.1007/s11940-019-0605-y · Cited by 42 · see citing works
Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis
Schackmann, M. J. A., Ofman, R., Dijkstra, I. M. E., Wanders, R. J. A., & Kemp, S. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2014.12.005 · Cited by 41 · see citing works
Self-citationMuneer, Z., Wiesinger, C., Voigtländer, T., Werner, H. B., Berger, J., & Forss-Petter, S. (2014) · PLoS ONE · doi:10.1371/journal.pone.0108655 · Cited by 33 · see citing works
“clinical phenotypes of X-ALD in males [1–3].”
Self-citationVerheijden, S., Beckers, L., Casazza, A., Butovsky, O., Mazzone, M., & Baes, M. (2015) · Glia · doi:10.1002/glia.22831 · Cited by 40 · see citing works
Rodríguez-Pascau, L., Vilalta, A., Cerrada, M., Traver, E., Forss-Petter, S., Weinhofer, I., Bauer, J., Kemp, S., Pina, G., Pascual, S., et al. (2021) · Science Translational Medicine · doi:10.1126/scitranslmed.abc0555 · Cited by 40 · see citing works
Self-citationClinical Trials for Gene Therapy in Lysosomal Diseases With CNS Involvement
Sevin, C., & Deiva, K. (2021) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2021.624988 · Cited by 38 · see citing works
Ogaki, K., Koga, S., Aoki, N., Lin, W.-L., Suzuki, K., Ross, O. A., & Dickson, D. W. (2015) · Neuropathology · doi:10.1111/neup.12230 · Cited by 35 · see citing works
Mitochondrial Dysfunction in Demyelinating Diseases
Carvalho, K. S. (2013) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2013.09.001 · Cited by 35 · see citing works
Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation
Schlüter, A., Sandoval, J., Fourcade, S., Díaz‐Lagares, Á., Ruíz, M., Casaccia, P., Esteller, M., & Pujol, A. (2018) · Brain Pathology · doi:10.1111/bpa.12595 · Cited by 35 · see citing works
Versatility of peroxisomes: An evolving concept
Deb, R., & Nagotu, S. (2017) · Tissue and Cell · doi:10.1016/j.tice.2017.03.002 · Cited by 33 · see citing works
Next generation sequencing in endocrine practice
Forlenza, G. P., Calhoun, A. R. U. L., Beckman, K. B., Halvorsen, T., Hamdoun, E., Zierhut, H. A., Sarafoglou, K., Polgreen, L. E., Miller, B. S., Nathan, B. M., et al. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.05.002 · Cited by 32 · see citing works
Bezafibrate for X-Linked Adrenoleukodystrophy
Engelen, M., Tran, L., Ofman, R., Brennecke, J., Moser, A. B., Dijkstra, I. M. E., Wanders, R. J. A., Poll‐The, B. T., & Kemp, S. (2012) · PLoS ONE · doi:10.1371/journal.pone.0041013 · Cited by 31 · see citing works
Self-citationWaldhüter, N., Köhler, W., Hemmati, P., Jehn, C. F., Peceny, R., Vuong, G. L., Arnold, R., & Kühl, J. (2019) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12044 · Cited by 31 · see citing works
Targeting foam cell formation in inflammatory brain diseases by the histone modifier MS‐275
Zierfuss, B., Weinhofer, I., Buda, A., Popitsch, N. P., Hess, L., Moos, V., Hametner, S., Kemp, S., Köhler, W., Forss‐Petter, S., et al. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51200 · Cited by 30 · see citing works
Self-citationZhou, J., Terluk, M. R., Orchard, P. J., Cloyd, J. C., & Kartha, R. V. (2021) · Biomedicines · doi:10.3390/biomedicines9121826 · Cited by 30 · see citing works
Richmond, P. A., van der Kloet, F., Vaz, F. M., Lin, D., Uzozie, A., Graham, E., Kobor, M., Mostafavi, S., Moerland, P. D., Lange, P. F., et al. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.00520 · Cited by 29 · see citing works
Self-citationTakashima, S., Toyoshi, K., Itoh, T., Kajiwara, N., Honda, A., Ohba, A., Takemoto, S., Yoshida, S., & Shimozawa, N. (2017) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2016.12.013 · Cited by 28 · see citing works
X-linked adrenoleukodystrophy and primary adrenal insufficiency
Cappa, M., Todisco, T., & Bizzarri, C. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1309053 · Cited by 28 · see citing works
Natural history of a cohort of <i><scp>ABCD</scp>1</i> variant female carriers
Schirinzi, T., Vasco, G., Aiello, C., Rizzo, C., Sancesario, A., Romano, A., Favetta, M., Petrarca, M., Paone, L., Castelli, E., et al. (2019) · European Journal of Neurology · doi:10.1111/ene.13816 · Cited by 27 · see citing works
Essadek, S., Bouchab, H., Kebbaj, R. E., Gondcaille, C., Kamouni, S. E., Savary, S., Vamecq, J., Essamadi, A., Cherkaoui‐Malki, M., Nasser, B., et al. (2022) · Pharmaceuticals · doi:10.3390/ph15040465 · Cited by 26 · see citing works
Oxidative Stress in Patients with X-Linked Adrenoleukodystrophy
Deon, M., Marchetti, D. P., Donida, B., Wajner, M., & Vargas, C. R. (2015) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-015-0234-2 · Cited by 26 · see citing works
Increased VLCFA-lipids and ELOVL4 underlie neurodegeneration in frontotemporal dementia
He, Y. Z., Phan, K., Bhatia, S., Pickford, R., Fu, Y., Yang, Y., Hodges, J. R., Piguet, O., Halliday, G. M., & Kim, W. S. (2021) · Scientific Reports · doi:10.1038/s41598-021-00870-x · Cited by 25 · see citing works
Vorinostat in the acute neuroinflammatory form of X‐linked adrenoleukodystrophy
Zierfuss, B., Weinhofer, I., Kühl, J., Köhler, W., Bley, A. E., Zauner, K., Binder, J., Martinović, K., Seiser, C., Hertzberg, C., et al. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51015 · Cited by 23 · see citing works
Self-citationDas, Y., Swinkels, D., & Baes, M. I. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22084101 · Cited by 24 · see citing works
Wang, X. M., Yik, W. Y., Zhang, P., Lu, W., Huang, N., Kim, B. R., Shibata, D. K., Zitting, M., Chow, R. H.-P., Moser, A. B., et al. (2015) · Stem Cell Research & Therapy · doi:10.1186/s13287-015-0149-3 · Cited by 22 · see citing works
Geric, I., Tyurina, Y. Y., Krysko, O., Krysko, D. V., de Schryver, E., Kagan, V. E., Veldhoven, P. P. V., Baes, M. I., & Verheijden, S. (2017) · Immunology · doi:10.1111/imm.12844 · Cited by 22 · see citing works
Partial PLP1 Deletion Causing X-Linked Dominant Spastic Paraplegia Type 2
Matsufuji, M., Osaka, H., Gotoh, L., Shimbo, H., Takashima, S., & Inoue, K. (2013) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2013.07.012 · Cited by 21 · see citing works
Biogenesis and Function of Peroxisomes in Human Disease with a Focus on the ABC Transporter
Imanaka, T. (2019) · Biological and Pharmaceutical Bulletin · doi:10.1248/bpb.b18-00723 · Cited by 21 · see citing works
Genetic aetiology of primary adrenal insufficiency in Chinese children
Chang, Z., Lu, W., Zhao, Z., Li, X., Li, X., Ye, R., Ni, J., Zhou, P., Zhang, M., Cheng, R., et al. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-01021-x · Cited by 19 · see citing works
The pathology of X-linked adrenoleukodystrophy: Tissue specific changes as a clue to pathophysiology
Yska, H. A. F., Engelen, M., & Bugiani, M. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03105-0 · Cited by 20 · see citing works
Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy
Park, H. J., Shin, H. Y., Kang, H., Choi, B., Suh, B. C., Kim, H. J., Choi, Y., Lee, P. H., & Kim, S. M. (2014) · Yonsei Medical Journal · doi:10.3349/ymj.2014.55.3.676 · Cited by 20 · see citing works
Bartlett, M., Nasiri, N., Pressman, R., Bademci, G., & Forghani, I. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62073 · Cited by 20 · see citing works
Beyond gait and balance: Urinary and bowel dysfunction in X-linked adrenoleukodystrophy
Corre, C. S., Grant, N., Sadjadi, R., Hayden, D., Becker, C., Gomery, P., & Eichler, F. S. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01596-1 · Cited by 19 · see citing works
Peroxisomes of the Brain: Distribution, Functions, and Associated Diseases
Deb, R., Joshi, N., & Nagotu, S. (2021) · Neurotoxicity Research · doi:10.1007/s12640-020-00323-9 · Cited by 19 · see citing works
Hofereiter, J., Smith, M. D., Seth, J., Tudor, K. I., Fox, Z., Emmanuel, A., Murphy, E., Lachmann, R. H., & Panicker, J. (2015) · JIMD Reports · doi:10.1007/8904_2015_414 · Cited by 18 · see citing works
Verheijden, S., Beckers, L., Munter, S. D., Veldhoven, P. P. V., & Baes, M. I. (2013) · Biochimie · doi:10.1016/j.biochi.2013.08.009 · Cited by 18 · see citing works
Jiang, M., Cai, Y.-N., Liang, C., Peng, M.-Z., Sheng, H., Fan, L.-P., Lin, R., Jiang, H., Huang, Y., & Liu, L. (2015) · Metabolic Brain Disease · doi:10.1007/s11011-015-9717-6 · Cited by 17 · see citing works
- Authors
- Kemp, S., Berger, J., & Aubourg, P.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Medical University of Vienna (AT)
- Inserm (FR)
- Corresponding author
- Kemp, Stephan
- Venue
- Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Publisher
- Elsevier BV
- Published
- 2012-09
- Volume
- 1822
- Issue
- 9
- Pages
- 1465-1474
- ISSN
- 0925-4439 (ISSN-L)
- OpenAlex
- W2073937441
- Cited by
- 283
- References
- 108
- Citations by year
- 2026: 11 · 2025: 10 · 2024: 24 · 2023: 16 · 2022: 19 · 2021: 29 · 2020: 15 · 2019: 22 · 2018: 19 · 2017: 23 · 2016: 16 · 2015: 28 · 2014: 30 · 2013: 15 · 2012: 5
- FWCI
- 2.99
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Funders
- Netherlands Organization for Scientific Research (91786328)
- Vienna Science and Technology Fund (LS154)
- INSERM
- European Union Framework Programme 7 (241622)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- X-linked adrenoleukodystrophy, ABCD1 gene, ALDP, peroxisomal disorders, very long chain fatty acids, peroxisomal beta-oxidation, ELOVL1, adrenomyeloneuropathy, genotype-phenotype correlation, peroxisomal membrane proteins, disease pathophysiology
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Animals, Brain, Fatty Acids, Female, Humans, Mutation, Phenotype, Pregnancy, Prenatal Diagnosis, ATP-Binding Cassette Transporters
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Claims read by deepseek-v4.1-flash under definition version 3 (extract-v3) on 2026-10-11.
Classified by jev-1.13-20260917 (gold-guideline-v0.2) on 2026-10-11.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
