Peroxisome biogenesis disorders

Steinberg, Steven J.; Dodt, Gabriele; Raymond, Gerald V.; Braverman, Nancy E.; Moser, Ann B.; Moser, Hugo W.

doi:10.1016/j.bbamcr.2006.09.010

Cited by 522Metabolism and Genetic DisordersGlycogen Storage Diseases and MyoclonusHereditary Neurological Disorders

Peroxisome biogenesis disorders

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Steinberg, Steven J., Dodt, Gabriele, Raymond, Gerald V., Braverman, Nancy E., Moser, Ann B., Moser, Hugo W.·2006·Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

DOI 10.1016/j.bbamcr.2006.09.010

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Abstract

Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP). Biochemical studies performed in blood and urine are used to screen for the PBD. DNA testing is possible for all of the disorders, but is more challenging for the ZSS since 12 PEX genes are known to be associated with this spectrum of PBD. In contrast, PBD-RCDP is associated with defects in the PEX7 gene alone. Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly.

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A genotype-phenotype correlation has been described for PEX gene mutations.
“However, a genotype-phenotype correlation has been described for PEX gene mutations [45].”
From Peroxisomes in brain development and function (2016) · cites this paper as [45]
There are no clear boundaries between Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease, as they can all be caused by mutations in the same gene.
“The identification of PBD complementation groups and their genetic basis has revealed that there are no clear boundaries between Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease, as they can all be caused by mutations in the same gene.”
From Peroxisomes in brain development and function (2016) · cites this paper as [45]

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The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101 · see citing works
Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome
Goldfischer, S. L., Moore, C. L., Johnson, T., Spiro, A. J., Valsamis, M. P., Wisniewski, H. K., Ritch, R. H., Norton, W. T., Rapin, I., & Gartner, L. M. (1973) · Science · doi:10.1126/science.182.4107.62 · Cited by 791 · see citing works
Mutations in antiquitin in individuals with pyridoxine-dependent seizures
Mills, P. B., Struys, E. A., Jakobs, C., et al. (2006) · Nature Medicine · doi:10.1038/nm1366 · Cited by 555 · see citing works
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
Messiaen, L. M., Callens, T., Mortier, G. R., Beysen, D., Vandenbroucke, I., Roy, N. V., Speleman, F., & Paepe, A. D. (2000) · Human Mutation · doi:10.1002/1098-1004(200006)15:6 · Cited by 520 · see citing works
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata
Braverman, N., Steel, G., Obie, C., Moser, A. B., Moser, H. W., Gould, S. J., & Valle, D. L. (1997) · Nature Genetics · doi:10.1038/ng0497-369 · Cited by 433 · see citing works
Self-citation
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders
Dodt, G., Braverman, N., Wong, C., Moser, A. B., Moser, H. W., Watkins, P. A., Valle, D. L., & Gould, S. J. (1995) · Nature Genetics · doi:10.1038/ng0295-115 · Cited by 424 · see citing works
Self-citation
Peroxisomal targeting signal-1 recognition by the TPR domains of human PEX5.
Berg, J. M., Gatto, G. J. J., Geisbrecht, B. V., & Gould, S. J. (2000) · Nature Structural Biology · doi:10.1038/81930 · Cited by 363 · see citing works
A Human Gene Responsible for Zellweger Syndrome That Affects Peroxisome Assembly
Shimozawa, N., Tsukamoto, T., Suzuki, Y., Orii, T., Shirayoshi, Y., Mori, T., & Fujiki, Y. (1992) · Science · doi:10.1126/science.1546315 · Cited by 361 · see citing works
Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)
Heymans, H. S. A., Schutgens, R. B. H., Tan, R., van den BOSCH, H., & Borst, P. (1983) · Nature · doi:10.1038/306069a0 · Cited by 348 · see citing works
Disorders of peroxisome biogenesis
Braverman, N., Dodt, G., Gould, S., & Valle, D. L. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.suppl_1.1791 · Cited by 283 · see citing works
Self-citation
The Cerebrohepatorenal (Zellweger) Syndrome
Moser, A. E., Singh, I., Brown, F. R., Solish, G. I., Kelley, R. I., Benke, P. J., & Moser, H. W. (1984) · New England Journal of Medicine · doi:10.1056/nejm198405033101802 · Cited by 271 · see citing works
Self-citation
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
Motley, A. M., Hettema, E. H., Hogenhout, E. M., Brites, P., ten Asbroek, A. L. M. A., Wijburg, F. A., Baas, F., Heijmans, H. S. A., Tabak, H. F., Wanders, R. J. A., et al. (1997) · Nature Genetics · doi:10.1038/ng0497-377 · Cited by 271 · see citing works
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor
Purdue, P. E., Zhang, J. W., Skoneczny, M., & Lazarow, P. B. (1997) · Nature Genetics · doi:10.1038/ng0497-381 · Cited by 265 · see citing works
Cerebro-hepato-renal syndrome of Zellweger
Danks, D. M., Tippett, P., Adams, C., & Campbell, P. E. (1975) · The Journal of Pediatrics · doi:10.1016/s0022-3476(75)80967-x · Cited by 245 · see citing works
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups
Moser, A. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M. C., Hajra, A. K., Chen, G. L., Raymond, G. V., Liu, A., Gordon, D., et al. (1995) · The Journal of Pediatrics · doi:10.1016/s0022-3476(95)70250-4 · Cited by 244 · see citing works
Self-citation
Peroxisome Synthesis in the Absence of Preexisting Peroxisomes
South, S. T., & Gould, S. J. (1999) · The Journal of Cell Biology · doi:10.1083/jcb.144.2.255 · Cited by 241 · see citing works
Book Review: Plasmalogens: Workhorse Lipids of Membranes in Normal and Injured Neurons and Glia
Farooqui, A. A., & Horrocks, L. A. (2001) · The Neuroscientist · doi:10.1177/107385840100700308 · Cited by 237 · see citing works
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders
Reuber, B. E., Germain‐Lee, E. L., Collins, C. S., Morrell, J. C., Ameritunga, R., Moser, H. W., Valle, D. L., & Gould, S. J. (1997) · Nature Genetics · doi:10.1038/ng1297-445 · Cited by 234 · see citing works
Self-citation
Human PEX19 : cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly
Matsuzono, Y., Kinoshita, N., Tamura, S., Shimozawa, N., Hamasaki, M., Ghaedi, K., Wanders, R. J. A., Suzuki, Y., Kondo, N., & Fujiki, Y. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.5.2116 · Cited by 228 · see citing works
Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration
Volpe, J. J., & Adams, R. D. (1972) · Acta Neuropathologica · doi:10.1007/bf00686900 · Cited by 225 · see citing works
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders
Wanders, R. J. A., & Waterham, H. R. (2004) · Clinical Genetics · doi:10.1111/j.1399-0004.2004.00329.x · Cited by 220 · see citing works
The Mammalian Peroxin Pex5pL, the Longer Isoform of the Mobile Peroxisome Targeting Signal (PTS) Type 1 Transporter, Translocates the Pex7p·PTS2 Protein Complex into Peroxisomes via Its Initial Docking Site, Pex14p
Otera, H., Harano, T., Honsho, M., Ghaedi, K., Mukai, S., Tanaka, A., Kawai, A., Shimizu, N., & Fujiki, Y. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m000720200 · Cited by 206 · see citing works
Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome
Wanders, R. J. A., Kos, M., Roest, B. C., Meijer, A. J., Schrakamp, G., Heymans, H. S. A., Tegelaers, W. H. H., van den BOSCH, H., Schutgens, R. B. H., & Tager, J. M. (1984) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(84)80240-5 · Cited by 199 · see citing works
The pathogenic peroxin Pex26p recruits the Pex1p–Pex6p AAA ATPase complexes to peroxisomes
Matsumoto, N., Tamura, S., & Fujiki, Y. (2003) · Nature Cell Biology · doi:10.1038/ncb982 · Cited by 194 · see citing works
Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome
Schutgens, R. B. H., Romeyn, G. J., Wanders, R. J. A., van den BOSCH, H., Schrakamp, G., & Heymans, H. S. A. (1984) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(84)91430-x · Cited by 192 · see citing works
Refsum's disease: a peroxisomal disorder affecting phytanic acid α‐oxidation
Wierzbicki, A. S., Lloyd, M. D., Schofield, C. J., Feher, M. D., & Gibberd, F. B. (2002) · Journal of Neurochemistry · doi:10.1046/j.0022-3042.2002.00766.x · Cited by 190 · see citing works
An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes
Braverman, N. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.8.1195 · Cited by 190 · see citing works
Self-citation
Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver
Scotto, J. M., Hadchouel, M., Odièvre, M., Laudat, M. H., Saudubray, J., Dulac, O., Beucler, I., & Beaune, P. H. (1982) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799998 · Cited by 178 · see citing works
The mechanism of arrest of neuronal migration in the Zellweger malformation: An hypothesis based upon cytoarchitectonic analysis
Evrard, P., Caviness, V. S., Prats-Vinas, J., & Lyon, G. (1978) · Acta Neuropathologica · doi:10.1007/bf00689761 · Cited by 175 · see citing works
New developments in fatty acid oxidation
Birkhahn, R. H. (1993) · Trends in Endocrinology and Metabolism · doi:10.1016/1043-2760(93)90131-w · Cited by 172 · see citing works
Identification of PEX7 as the second gene involved in Refsum disease
van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., & Ronald Wanders, J. A. (2003) · The American Journal of Human Genetics · doi:10.1086/346093 · Cited by 171 · see citing works
Docosahexaenoic acid synthesis in human skin fibroblasts involves peroxisomal retroconversion of tetracosahexaenoic acid
Moore, S. A., Hurt, E., Yoder, E. J., Sprecher, H. W., & Spector, A. A. (1995) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)39724-8 · Cited by 171 · see citing works
Mutation in Is Causal in the Peroxisome-Deficient Zellweger Syndrome of Complementation Group D
Honsho, M., Tamura, S., Shimozawa, N., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/302161 · Cited by 169 · see citing works
Targeting of human catalase to peroxisomes is dependent upon a novel COOH-terminal peroxisomal targeting sequence.
Purdue, P. E., & Lazarow, P. B. (1996) · The Journal of Cell Biology · doi:10.1083/jcb.134.4.849 · Cited by 165 · see citing works
Pex12 Interacts with Pex5 and Pex10 and Acts Downstream of Receptor Docking in Peroxisomal Matrix Protein Import
Chang, C., Warren, D. S., Sacksteder, K. A., & Gould, S. J. (1999) · The Journal of Cell Biology · doi:10.1083/jcb.147.4.761 · Cited by 150 · see citing works
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
Portsteffen, H., Beyer, A., Becker, E., Epplen, C., Pawlak, A., Kunau, W., & Dodt, G. (1997) · Nature Genetics · doi:10.1038/ng1297-449 · Cited by 148 · see citing works
Self-citation
Zellweger syndrome: Diagnostic assays, syndrome delineation, and potential therapy
Wilson, G. N., Holmes, R. G., Custer, J. R., Lipkowitz, J., Stover, J., Datta, N. S., Hajra, A. K., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320240109 · Cited by 144 · see citing works
Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders
Chang, C., Lee, W.-H., Moser, H. W., Valle, D. L., & Gould, S. J. (1997) · Nature Genetics · doi:10.1038/ng0497-385 · Cited by 141 · see citing works
Self-citation
Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., et al. (2002) · Human Mutation · doi:10.1002/humu.10124 · Cited by 134 · see citing works
Self-citation
Biochemical abnormalities in rhizomelic chondrodysplasia punctata
Hoefler, G., Hoefler, S., Watkins, P. A., Chen, W. W., Moser, A., Baldwin, V., McGillivary, B., Charrow, J., Friedman, J. M., Rutledge, L., et al. (1988) · The Journal of Pediatrics · doi:10.1016/s0022-3476(88)80689-9 · Cited by 133 · see citing works
Self-citation
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum
Steinberg, S. J., Chen, L., Wei, L., et al. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.08.008 · Cited by 127 · see citing works
Self-citation
Natural history of rhizomelic chondrodysplasia punctata
White, A. L., Modaff, P., Holland‐Morris, F., & Pauli, R. M. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20009 · Cited by 124 · see citing works
MRI evidence that docosahexaenoic acid ethyl ester improves myelination in generalized peroxisomal disorders
Martínez, M., & Vázquez, É. (1998) · Neurology · doi:10.1212/wnl.51.1.26 · Cited by 122 · see citing works
Identification of PEX10, the Gene Defective in Complementation Group 7 of the Peroxisome-Biogenesis Disorders
Warren, D. S., Morrell, J. C., Moser, H. W., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301963 · Cited by 122 · see citing works
Self-citation
Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study.
Gatfield, P. D., Taller, E., Hinton, G. G., Wallace, A. C., Abdelnour, G. M., & Haust, M. D. (1968) · PubMed Central · Cited by 121 · see citing works
Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders
Slawecki, M. L., Dodt, G., Steinberg, S., Moser, A. B., Moser, H. W., & Gould, S. J. (1995) · Journal of Cell Science · doi:10.1242/jcs.108.5.1817 · Cited by 120 · see citing works
Self-citation
The biological significance of plasmalogens in defense against oxidative damage
Brosche, T., & Platt, D. (1998) · Experimental Gerontology · doi:10.1016/s0531-5565(98)00014-x · Cited by 119 · see citing works
Domain Mapping of Human PEX5 Reveals Functional and Structural Similarities to Saccharomyces cerevisiae Pex18p and Pex21p
Dodt, G., Warren, D. S., Becker, E., Rehling, P., & Gould, S. J. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m106932200 · Cited by 115 · see citing works
Self-citation
Adrenoleukodystrophy
ULRICH, J., HERSCHKOWITZ, N. N., Heitz, P. U., Sigrist, T., & Baerlocher, P. (1978) · Acta Neuropathologica · doi:10.1007/bf00685001 · Cited by 110 · see citing works
Oral bile acid treatment and the patient with zellweger syndrome
Setchell, K. D. R., Bragetti, P., Zimmer-Nechemias, L., Daugherty, C. C., Pelli, M. A., Vaccaro, R., Gentili, G., Distrutti, E., Dozzini, G., Morelli, A., et al. (1992) · Hepatology · doi:10.1002/hep.1840150206 · Cited by 108 · see citing works
Disorders of Peroxisome Biogenesis Due to Mutations in PEX1: Phenotypes and PEX1 Protein Levels
Walter, C., Gootjes, J., Mooijer, P. A. W., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/321265 · Cited by 108 · see citing works
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings
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
Self-citation
Defective Peroxisome Membrane Synthesis Due To Mutations in Human PEX3 Causes Zellweger Syndrome, Complementation Group G
Muntau, A. C., Mayerhofer, P. U., Paton, B. C., Kammerer, S., & Roscher, A. A. (2000) · The American Journal of Human Genetics · doi:10.1086/303071 · Cited by 108 · see citing works
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1
Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. A., & Waterham, H. R. (2002) · The American Journal of Human Genetics · doi:10.1086/338998 · Cited by 107 · see citing works
Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.
Fukuda, S., Shimozawa, N., Suzuki, Y., et al. (1996) · PubMed · Cited by 106 · see citing works
Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B
Okumoto, K. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.9.1399 · Cited by 106 · see citing works
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata
Bams-Mengerink, A. M., Majoie, C. B. L. M., Duran, M., Wanders, R. J. A., Van Hove, J., Scheurer, C. D., Barth, P. G., & Poll-The, B. T. (2006) · Neurology · doi:10.1212/01.wnl.0000205594.34647.d0 · Cited by 97 · see citing works
Dietary ether lipid incorporation into tissue plasmalogens of humans and rodents
Das, A. K., Holmes, R., Wilson, G. N., & Hajra, A. K. (1992) · Lipids · doi:10.1007/bf02536379 · Cited by 97 · see citing works
PEX12 , the Pathogenic Gene of Group III Zellweger Syndrome: cDNA Cloning by Functional Complementation on a CHO Cell Mutant, Patient Analysis, and Characterization of Pex12p
Okumoto, K., Shimozawa, N., Kawai, A., et al. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.7.4324 · Cited by 97 · see citing works
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders
Shimozawa, N. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.6.1077 · Cited by 96 · see citing works
Plasma and Red Blood Cell Fatty Acids in Peroxisomal Disorders
Moser, A. B., Jones, D. S., Raymond, G. V., & Moser, H. W. (1999) · Neurochemical Research · doi:10.1023/a:1022549618333 · Cited by 93 · see citing works
Self-citation
Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients
Poll‐The, B. T., Gootjes, J., Durán, M., de Klerk, J. B. C., Wenniger-Prick, L. J. J. M. M. D. B., Admiraal, R. J. C., Waterham, H. R., Wanders, R. J. A., & Barth, P. G. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20664 · Cited by 92 · see citing works
The Cerebrohepatorenal (Zellweger) Syndrome: An Improved Method for the Biochemical Diagnosis and its Potential Value for Prenatal Detection
Roscher, A. A., Molzer, B., Bernheimer, H., et al. (1985) · Pediatric Research · doi:10.1203/00006450-198509000-00013 · Cited by 85 · see citing works
Mutations in Novel Peroxin Gene PEX26 That Cause Peroxisome-Biogenesis Disorders of Complementation Group 8 Provide a Genotype-Phenotype Correlation
Matsumoto, N., Tamura, S., Furuki, S., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/377004 · Cited by 83 · see citing works
Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals.
Björkhem, I., Sisfontes, L., Boström, B., et al. (1988) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)38802-7 · Cited by 82 · see citing works
Identification of a new complementation group of the peroxisome biogenesis disorders andPEX14 as the mutated gene
Shimozawa, N., Tsukamoto, T., Nagase, T., Takemoto, Y., Koyama, N., Suzuki, Y., Komori, M., Osumi, T., Gootjes, J., Wanders, R. J. A., et al. (2004) · Human Mutation · doi:10.1002/humu.20032 · Cited by 77 · see citing works
PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G
Ghaedi, K., Honsho, M., Shimozawa, N., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/303086 · Cited by 76 · see citing works
A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents
Raas‐Rothschild, A., Wanders, R. J. A., Mooijer, P. A. W., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/339766 · Cited by 72 · see citing works
Alkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome.
Schrakamp, G., Roosenboom, C. F. P., Schutgens, R. B. H., et al. (1985) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)34317-0 · Cited by 71 · see citing works
PEX13 Is Mutated in Complementation Group 13 of the Peroxisome-Biogenesis Disorders
Liu, Y., Björkman, J., Urquhart, A. J., Wanders, R. J. A., Crane, D. I., & Gould, S. J. (1999) · The American Journal of Human Genetics · doi:10.1086/302534 · Cited by 69 · see citing works
The occurrence of polyenoic very long chain fatty acids with greater than 32 carbon atoms in molecular species of phosphatidylcholine in normal and peroxisome-deficient (Zellweger's syndrome) brain
Poulos, A., Sharp, P. C., Johnson, D., & Easton, C. J. (1988) · Biochemical Journal · doi:10.1042/bj2530645 · Cited by 68 · see citing works
Temperature-Sensitive Phenotypes of Peroxisome-Assembly Processes Represent the Milder Forms of Human Peroxisome-Biogenesis Disorders
Imamura, A., Tsukamoto, T., Shimozawa, N., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301881 · Cited by 61 · see citing works
Alternative Splicing Suggests Extended Function of PEX26 in Peroxisome Biogenesis
Weller, S., Cajigas, I., Morrell, J. C., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/430637 · Cited by 61 · see citing works
Unique molecular species of phosphatidylcholine containing very-long-chain (C24-C38) polyenoic fatty acids in rat brain
Robinson, B. S., Johnson, D. W., & Poulos, A. (1990) · Biochemical Journal · doi:10.1042/bj2650763 · Cited by 57 · see citing works
Striated adrenocortical cells in cerebro-hepato-renal (Zellweger) syndrome
Goldfischer, S. L., Powers, J. M., Johnson, T., Axe, S. R., Brown, F. R., & Moser, H. W. (1983) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/bf00734851 · Cited by 57 · see citing works
Self-citation
Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): Clinical and biochemical findings similar to those observed in Zellweger syndrome
Ek, J., Kase, B. F., Reith, A., et al. (1986) · The Journal of Pediatrics · doi:10.1016/s0022-3476(86)80763-6 · Cited by 53 · see citing works
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities
de Vet, E. C. J. M., IJlst, L., Oostheim, W., Dekker, C., Moser, H. W., van den BOSCH, H., & Wanders, R. J. A. (1999) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)32423-8 · Cited by 53 · see citing works
Self-citation
Phenotype-Genotype Relationships in Complementation Group 3 of the Peroxisome-Biogenesis Disorders
Chang, C., & Gould, S. J. (1998) · The American Journal of Human Genetics · doi:10.1086/302103 · Cited by 52 · see citing works
Rapid and quantitative analysis of unconjugated C27 bile acids in plasma and blood samples by tandem mass spectrometry
Johnson, D. W., ten Brink, H. J., Schuit, R. C., et al. (2001) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)32330-0 · Cited by 52 · see citing works
Structural and Chemical Alterations in the Cerebral Maldevelopment of Fetal Cerebro-Hepato-Renal (Zellweger) Syndrome
Powers, J. M., Tummons, R. C., Caviness, V. S., Moser, A. B., & Moser, H. W. (1989) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-198905000-00005 · Cited by 49 · see citing works
Self-citation
Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations
Rosewich, H., Ohlenbusch, A., & Gärtner, J. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.033324 · Cited by 49 · see citing works
PEX7 Gene Structure, Alternative Transcripts, and Evidence for a Founder Haplotype for the Frequent RCDP Allele, L292ter
Braverman, N., Steel, G., Lin, P., Moser, A. B., Moser, H. W., & Valle, D. L. (2000) · Genomics · doi:10.1006/geno.1999.6080 · Cited by 47 · see citing works
Self-citation
Oral Bile Acid Treatment in Two Japanese Patients With Zellweger Syndrome
MAEDA, K., Kimura, A., Yamato, Y., Nittono, H., Takei, H., Sato, T., Mitsubuchi, H., Murai, T., & Kurosawa, T. (2002) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/00005176-200208000-00025 · Cited by 46 · see citing works
A new type of peroxisomal disorder with variable expression in liver and fibroblasts
Mandel, H., Espeel, M., Roels, F., et al. (1994) · The Journal of Pediatrics · doi:10.1016/s0022-3476(94)70006-0 · Cited by 45 · see citing works
Increased very long chain fatty acids in patients on a ketogenic diet: A cause of diagnostic confusion
Theda, C., Woody, R. C., Naidu, S., Moser, A. B., & Moser, H. W. (1993) · The Journal of Pediatrics · doi:10.1016/s0022-3476(06)80013-2 · Cited by 44 · see citing works
Self-citation
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype
Maxwell, M., Nelson, P. V., Chin, S. J., Paton, B. C., Carey, W. F., & Crane, D. I. (1999) · Human Genetics · doi:10.1007/s004399900095 · Cited by 43 · see citing works
Mutations in the Peroxin Pex26p Responsible for Peroxisome Biogenesis Disorders of Complementation Group 8 Impair Its Stability, Peroxisomal Localization, and Interaction with the Pex1p·Pex6p Complex
Furuki, S., Tamura, S., Matsumoto, N., et al. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m510044200 · Cited by 42 · see citing works
Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffman disease
Baumgartner, M. R., Verhoeven, N. M., Jacobs, C., et al. (1998) · Neurology · doi:10.1212/wnl.51.5.1427 · Cited by 42 · see citing works
Phenotype‒genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p‒Pex6p interaction
Tamura, S., MATSUMOTO, N., Imamura, A., et al. (2001) · Biochemical Journal · doi:10.1042/0264-6021:3570417 · Cited by 41 · see citing works
PEX1mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
Crane, D. I., Maxwell, M., & Paton, B. C. (2005) · Human Mutation · doi:10.1002/humu.20211 · Cited by 39 · see citing works
NovelPEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients
Maxwell, M., Allen, T., Solly, P. B., Svingen, T., Paton, B. C., & Crane, D. I. (2002) · Human Mutation · doi:10.1002/humu.10128 · Cited by 38 · see citing works
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism
Gootjes, J., Schmohl, F., Mooijer, P. A. W., Dekker, C., Mandel, H., Topçu, M., Huemer, M., von Schütz, M., Marquardt, T., Smeitink, J. A. M., et al. (2004) · Human Mutation · doi:10.1002/humu.20062 · Cited by 38 · see citing works
Preimplantation Genetic Diagnosis and Screening
Kearns, W. G., Pen, R., Graham, J., et al. (2005) · Seminars in Reproductive Medicine · doi:10.1055/s-2005-923391 · Cited by 35 · see citing works
Orthotopic liver transplantation from a living‐related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type
Maldergem, L. V., Moser, A. B., Vincent, M., et al. (2004) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-005-0593-9 · Cited by 35 · see citing works
Self-citation
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: Evidence for a founder haplotype for the most common PEX10 gene mutation
Shimozawa, N., Nagase, T., Takemoto, Y., Ohura, T., Suzuki, Y., & Kondo, N. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20030 · Cited by 34 · see citing works
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.
Mochel, F., Grébille, A.-G., Benachi, A., Martinovic, J., Encha‐Razavi, F., Rabier, D., Simon, I., Boddaert, N., Brunelle, F., & Sonigo, P. (2006) · PubMed Central · Cited by 34 · see citing works
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders
Shimozawa, N., Imamura, A., Zhang, Z., et al. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.10.779 · Cited by 34 · see citing works
Temperature-Sensitive Mutation of PEX6 in Peroxisome Biogenesis Disorders in Complementation Group C (CG-C): Comparative Study of PEX6 and PEX1
Imamura, A., Shimozawa, N., Suzuki, Y., et al. (2000) · Pediatric Research · doi:10.1203/00006450-200010000-00020 · Cited by 33 · see citing works
Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects.
Paton, B. C., Sharp, P. C., Crane, D. I., & Poulos, A. (1996) · Journal of Clinical Investigation · doi:10.1172/jci118465 · Cited by 30 · see citing works
Biochemical markers predicting survival in peroxisome biogenesis disorders
Gootjes, J., Mooijer, P. A. W., Dekker, C., Barth, P. G., Poll‐The, B. T., Waterham, H. R., & Wanders, R. J. A. (2002) · Neurology · doi:10.1212/01.wnl.0000036609.14203.70 · Cited by 30 · see citing works
Prenatal diagnosis of rhizomelic chondrodysplasia punctata
Hoefler, S., Höefler, G., Moser, A. B., Watkins, P. A., Chen, W. W., & Moser, H. W. (1988) · Prenatal Diagnosis · doi:10.1002/pd.1970080804 · Cited by 30 · see citing works
Self-citation
Skeletal abnormalities in Refsum's disease (heredopathia atactica polyneuritiformis)
Plant, G. R., Hansell, D. M., Gibberd, F. B., & Sidey, M. C. (1990) · British Journal of Radiology · doi:10.1259/0007-1285-63-751-537 · Cited by 29 · see citing works
Fatty Alcohol Accumulation in the Autosomal Recessive Form of Rhizomelic Chondrodysplasia Punctata
Rizzo, W. B., Craft, D. A., Judd, L. L., et al. (1993) · Biochemical Medicine and Metabolic Biology · doi:10.1006/bmmb.1993.1050 · Cited by 28 · see citing works
Two Splice Variants of Human PEX19 Exhibit Distinct Functions in Peroxisomal Assembly
Mayerhofer, P. U., Kattenfeld, T., Roscher, A. A., et al. (2002) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2002.6568 · Cited by 27 · see citing works
Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder
Gootjes, J., Elpeleg, O. N., Eyskens, F. J. M., Mandel, H., Mitanchez, D., Shimozawa, N., Suzuki, Y., Waterham, H. R., & Wanders, R. J. A. (2003) · Pediatric Research · doi:10.1203/01.pdr.0000106862.83469.8d · Cited by 27 · see citing works
Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida
Sastrowijoto, S. H., Vandenberghe, K., Moerman, P., Lauweryns, J. M., & Fryns, J. (1994) · Prenatal Diagnosis · doi:10.1002/pd.1970140821 · Cited by 26 · see citing works
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data
Craemer, D. D., Zweens, M. J., Lyonnet, S., et al. (1991) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/bf01650683 · Cited by 25 · see citing works
A Novel Aberrant Splicing Mutation of the PEX16 Gene in Two Patients with Zellweger Syndrome
Shimozawa, N., Nagase, T., Takemoto, Y., Suzuki, Y., Fujiki, Y., Wanders, R. J. A., & Kondo, N. (2002) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2002.6642 · Cited by 24 · see citing works
High incidence of hyperoxaluria in generalized peroxisomal disorders
van Woerden, C. S., Groothoff, J. W., Wijburg, F. A., Durán, M., Wanders, R. J. A., Barth, P. G., & Poll‐The, B. T. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.03.004 · Cited by 23 · see citing works
The prenatal diagnosis of the cerebro‐hepato‐renal syndrome of Zellweger
Solish, G. I., Moser, H. W., Ringer, L. D., et al. (1985) · Prenatal Diagnosis · doi:10.1002/pd.1970050106 · Cited by 23 · see citing works
Self-citation
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder
Gootjes, J., Schmohl, F., Waterham, H. R., & Wanders, R. J. A. (2003) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201090 · Cited by 22 · see citing works
PEX1 deficiency presenting as Leber congenital amaurosis
Michelakakis, H., Zafeiriou, D., Moraitou, M., et al. (2004) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2004.01.013 · Cited by 22 · see citing works
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata
Hughes, J. L., Poulos, A., Crane, D. I., Chow, C. W., Sheffield, L. J., & Sillence, D. O. (1992) · European Journal of Pediatrics · doi:10.1007/bf01957935 · Cited by 22 · see citing works
Peroxisomal ghosts are intracellular structures distinct from lysosomal compartments in Zellweger Syndrome: A confocal laser scanning microscopy study
Santos, M. J., Henderson, S. C., Moser, A. B., Moser, H. W., & Lazarow, P. B. (2000) · Biology of the Cell · doi:10.1016/s0248-4900(00)89016-4 · Cited by 21 · see citing works
Self-citation
Molecular Mechanism of Detectable Catalase-Containing Particles, Peroxisomes, in Fibroblasts from a PEX2-Defective Patient
Shimozawa, N., Zhang, Z., Imamura, A., et al. (2000) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1999.2082 · Cited by 21 · see citing works
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder
Gootjes, J., Skovby, F., Christensen, E., Wanders, R. J. A., & Ferdinandusse, S. (2004) · Neurology · doi:10.1212/01.wnl.0000127576.26352.d1 · Cited by 21 · see citing works
Therapeutic developments in peroxisome biogenesis disorders
McGuinness, M. C., Wei, H., & Smith, K. D. (2000) · Expert Opinion on Investigational Drugs · doi:10.1517/13543784.9.9.1985 · Cited by 20 · see citing works
Peroxisomal Fatty Acid Alpha-and Beta-Oxidation in Health and Disease: New insights
Wanders, R. J. A., van Roermund, C. W. T., Visser, W. F., Ferdinandusse, S., Jansen, G. A., van den Brink, D. M., Gloerich, J., & Waterham, H. R. (2003) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-9072-3_37 · Cited by 19 · see citing works
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection
Steinberg, S., Katsanis, S., Moser, A. B., & Cutting, G. R. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.023556 · Cited by 19 · see citing works
Self-citation
Disturbed very long chain (C24–C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndrome
Govaerts, L. C. P., Bakkeren, J. A. J. M., Monnens, L. A. H., Maas, J. M., Trijbels, F. J. M., & Kleijer, W. J. (1984) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01805473 · Cited by 19 · see citing works
Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism
Pineda, M., Girós, M., Roels, F., Espeel, M., Ruíz, M., Moser, A. B., Moser, H. W., Wanders, R. J. A., Pavía, C., Conill, J., et al. (1999) · Journal of Child Neurology · doi:10.1177/088307389901400705 · Cited by 19 · see citing works
Self-citation
NovelPEX1 coding mutations and 5′ UTR regulatory polymorphisms
Maxwell, M., Leane, P. B., Paton, B. C., et al. (2005) · Human Mutation · doi:10.1002/humu.9356 · Cited by 15 · see citing works
A novel mutation, R125X in peroxisome assembly factor-1 responsible for zellweger syndrome
Shimozawa, N., Suzuki, Y., Tomatsu, S., et al. (1998) · Human Mutation · doi:10.1002/humu.1380110145 · Cited by 13 · see citing works
Fish oil and myelin
Noetzel, M. J. (1998) · Neurology · doi:10.1212/wnl.51.1.5 · Cited by 13 · see citing works
Epoxy acids in peroxisomal disorders
Stokke, O., Jellum, E., Kvittingen, E. A., et al. (1986) · Scandinavian Journal of Clinical and Laboratory Investigation · doi:10.3109/00365518609086487 · Cited by 13 · see citing works
Short Report: Plasma pipecolic acid is frequently elevated in non‐peroxisomal disease
Baas, J. C. M., van de Laar, R., DORLAND, L., et al. (2003) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1022889400302 · Cited by 12 · see citing works
Epoxydicarboxylic aciduria resulting from the ingestion of castor oil
Hagenfeldt, L., Blomquist, L., & Midtvedt, T. (1986) · Clinica Chimica Acta · doi:10.1016/0009-8981(86)90209-3 · Cited by 12 · see citing works
A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia
Kapelari, K., Ghanaati, Z., Wollmann, H. A., Ventz, M., Ranke, M. B., Kofler, R., & Peters, H. (1999) · Human Mutation · doi:10.1002/(sici)1098-1004(1999)13:6 · Cited by 8 · see citing works
[Cerebro-hepato-renal (Zellweger) syndrome].
Szabó, L., Garzuly, F., & Kádas, L. (1974) · PubMed · Cited by 8 · see citing works
Clinical significance of oxidation from phytol to phytanic acid in man
Wierzbicki, A. S. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.06.011 · Cited by 7 · see citing works
Major hyperpipecolataemia in a normal adult
Vallat, C., Denis, S. W., Bellet, H., et al. (1996) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799837 · Cited by 7 · see citing works
Genomic Organization and Characterization of Human PEX2 Encoding a 35-kDa Peroxisomal Membrane Protein
Biermanns, M., & Gärtner, J. (2000) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2000.3039 · Cited by 7 · see citing works
Stability of Alkyl‐Dihydroxyacetonephosphate Synthase in Human Control and Peroxisomal Disorder Fibroblasts
Biermann, J., Gootjes, J., Wanders, R. J. A., et al. (1999) · IUBMB Life · doi:10.1080/713803571 · Cited by 5 · see citing works
Analysis of Very Long-Chain Fatty Acids and Plasmalogen in the Erythrocyte Membrane: A Simple Method for the Detection of Peroxisomal Disorders and Discrimination Between Adrenoleukodystrophy and Zellweger Syndrome
Tanaka, K., Nishizawa, K., Yamamoto, H., Naruto, T., Izeki, E., Taga, T., Shimada, M., & Saeki, Y. (1990) · Neuropediatrics · doi:10.1055/s-2008-1071476 · Cited by 4 · see citing works
Untitled work
Cann, S. A. H., Netten, J. P. V., & Netten, C. V. (2000) · Pure Amsterdam UMC · doi:10.1002/1531-8249(200003)47:3
Untitled work
Khanna (2001) · doi:10.1002/1096-8628(20010215)99:1
Untitled work
(1999) · doi:10.1002/(sici)1098-1004(1999)14:1

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Lipid Oxidation and Peroxidation in CNS Health and Disease: From Molecular Mechanisms to Therapeutic Opportunities
Adibhatla, R. M., & Hatcher, J. F. (2010) · Antioxidants & Redox Signaling · doi:10.1089/ars.2009.2668 · Cited by 480 · 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
PEX11 family members are membrane elongation factors that coordinate peroxisome proliferation and maintenance
Koch, J., Pranjic, K., Huber, A., Ellinger, A., Hartig, A., Kragler, F., & Brocard, C. (2010) · Journal of Cell Science · doi:10.1242/jcs.064907 · Cited by 163 · see citing works
Mechanisms of disease: inborn errors of bile acid synthesis
Sundaram, S. S., Bove, K. E., Lovell, M. A., & Sokol, R. J. (2008) · Nature Clinical Practice Gastroenterology & Hepatology · doi:10.1038/ncpgasthep1179 · Cited by 146 · see citing works
Transcriptome Analysis of K-877 (a Novel Selective PPARα Modulator (SPPARMα))-Regulated Genes in Primary Human Hepatocytes and the Mouse Liver
Raza-Iqbal, S., Tanaka, T., Anai, M., Inagaki, T., Matsumura, Y., Ikeda, K., Taguchi, A., Gonzalez, F. J., Sakai, J., & Kodama, T. (2015) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.28720 · Cited by 100 · see citing works
Does PGC1α/FNDC5/BDNF Elicit the Beneficial Effects of Exercise on Neurodegenerative Disorders?
Jodeiri Farshbaf, M., Ghaedi, K., Megraw, T. L., Curtiss, J., Shirani Faradonbeh, M., Vaziri, P., & Nasr-Esfahani, M. H. (2016) · NeuroMolecular Medicine · doi:10.1007/s12017-015-8370-x · Cited by 101 · see citing works
Axonal integrity in the absence of functional peroxisomes from projection neurons and astrocytes
Bottelbergs, A., Verheijden, S., Hulshagen, L., Gutmann, D. H., Goebbels, S., Nave, K., Kassmann, C., & Baes, M. (2010) · Glia · doi:10.1002/glia.21027 · Cited by 78 · see citing works
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Sevin, C., Ferdinandusse, S., Waterham, H. R., Wanders, R. J., & Aubourg, P. (2011) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-6-8 · Cited by 66 · see citing works
Peroxisome deficiency but not the defect in ether lipid synthesis causes activation of the innate immune system and axonal loss in the central nervous system
Bottelbergs, A., Verheijden, S., Van Veldhoven, P. P., Just, W., Devos, R., & Baes, M. (2012) · Journal of Neuroinflammation · doi:10.1186/1742-2094-9-61 · Cited by 66 · see citing works
Peroxisomes, myelination, and axonal integrity in the CNS
Baes, M., & Aubourg, P. (2009) · The Neuroscientist · doi:10.1177/1073858409336297 · Cited by 65 · see citing works
A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton
Braverman, N., Zhang, R., Chen, L., Nimmo, G., Scheper, S., Tran, T., Chaudhury, R., Moser, A., & Steinberg, S. (2010) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2009.12.005 · Cited by 66 · see citing works
Self-citation
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder
Hiebler, S., Masuda, T., Hacia, J. G., Moser, A. B., Faust, P. L., Liu, A., Chowdhury, N., Huang, N., Lauer, A., Bennett, J., et al. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.01.008 · Cited by 60 · see citing works
Self-citation
Systemic Diseases Associated with Retinal Dystrophies
Werdich, X. Q., Place, E. M., & Pierce, E. A. (2014) · Seminars in Ophthalmology · doi:10.3109/08820538.2014.959202 · Cited by 54 · see citing works
A role for myelin-associated peroxisomes in maintaining paranodal loops and axonal integrity
Kassmann, C. M., Quintes, S., Rietdorf, J., Möbius, W., Sereda, M. W., Nientiedt, T., Saher, G., Baes, M., & Nave, K.-A. (2011) · FEBS Letters · doi:10.1016/j.febslet.2011.05.032 · Cited by 52 · see citing works
Increasing acetyl-CoA metabolism attenuates injury and alters spinal cord lipid content in mice subjected to experimental autoimmune encephalomyelitis
Chevalier, A. C., & Rosenberger, T. A. (2017) · Journal of Neurochemistry · doi:10.1111/jnc.14032 · Cited by 50 · see citing works
Mechanistic Insights into PTS2-mediated Peroxisomal Protein Import
Kunze, M., Malkani, N., Maurer-Stroh, S., Wiesinger, C., Schmid, J. A., & Berger, J. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.601575 · Cited by 40 · see citing works
Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases
Carrozzo, R., Bellini, C., Lucioli, S., Deodato, F., Cassandrini, D., Cassanello, M., Caruso, U., Rizzo, C., Rizza, T., Napolitano, M. L., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32298 · Cited by 40 · see citing works
Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice
Liegel, R., Chang, B., Dubielzig, R., & Sidjanin, D. J. (2011) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.02.002 · Cited by 38 · see citing works
Self-Interaction of Human Pex11pβ during Peroxisomal Growth and Division
Bonekamp, N. A., Grille, S., Cardoso, M. J., Almeida, M., Aroso, M., Gomes, S., Magalhaes, A. C., Ribeiro, D., Islinger, M., & Schrader, M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0053424 · Cited by 29 · see citing works
Peroxisomal biogenesis in ischemic brain
Young, J. M., Nelson, J. W., Cheng, J., Zhang, W., Mader, S., Davis, C. M., Morrison, R. S., & Alkayed, N. J. (2015) · Antioxidants & Redox Signaling · doi:10.1089/ars.2014.5833 · Cited by 21 · see citing works
Combined deficiency of peroxisomal β-oxidation and ether lipid synthesis in mice causes only minor cortical neuronal migration defects but severe hypotonia
Krysko, O., Bottelbergs, A., Veldhoven, P. V., & Baes, M. (2010) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2010.02.003 · Cited by 17 · see citing works

Peroxisomal disorders: Clinical characterization
Monnens, L. A. H., & Heymans, H. S. A. (1987) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01812844 · Cited by 19 · see citing works
Peroxisomal disorders in neurology
Wanders, R. J. A., Heymans, H. S. A., Schutgens, R. B. H., Barth, P. G., van den BOSCH, H., & Tager, J. M. (1988) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(88)90203-1 · Cited by 176 · see citing works
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: Mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata
WANDERS, R. J. A., & Romeijn, G. J. (1998) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005353129761 · Cited by 15 · see citing works
Morphometry of peroxisomes and immunolocalisation of peroxisomal proteins in the liver of patients with generalised peroxisomal disorders
Hughes, J. L., Crane, D. I., Robertson, E. F., & Poulos, A. (1993) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/bf01606536 · Cited by 10 · see citing works
Bile Acid Analyses in “Pseudo-Zellweger” Syndrome; Clues to the Defect in Peroxisomal β-Oxidation
Clayton, P. T., Lake, B. D., Hjelm, M., et al. (1988) · Springer eBooks · doi:10.1007/978-94-009-1259-5_22 · Cited by 2 · see citing works

Authors: Steinberg, S. J., Dodt, G., Raymond, G. V., Braverman, N. E., Moser, A. B., & Moser, H. W.
Affiliations: Kennedy Krieger Institute (US)
University of Tübingen (DE)
Johns Hopkins University (US)
Corresponding author: Steinberg, Steven J.
ORCID: Steinberg, Steven J.
Raymond, Gerald V.
Braverman, Nancy E.
Moser, Ann B.
Venue: Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
Publisher: Elsevier BV
Published: 2006-12
Volume: 1763
Issue: 12
Pages: 1733-1748
ISSN: 0167-4889 (ISSN-L)
DOI: 10.1016/j.bbamcr.2006.09.010
OpenAlex: W2147536089
Cited by: 522
References: 137
Citations by year: 2026: 8 · 2025: 21 · 2024: 13 · 2023: 20 · 2022: 31 · 2021: 19 · 2020: 22 · 2019: 13 · 2018: 25 · 2017: 34 · 2016: 22 · 2015: 28 · 2014: 39 · 2013: 38 · 2012: 47
FWCI: 2.94
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 2456 d)
Locations: Biochimica et Biophysica Acta (BBA) - Molecular Cell Research (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords: peroxisome biogenesis disorders, PEX genes, peroxisome biogenesis, rhizomelic chondrodysplasia punctata, PEX7, peroxisomal disorders, biochemical screening, DNA testing
MeSH terms: Amino Acid Sequence, Humans, Membrane Proteins, Molecular Sequence Data, Pipecolic Acids, Plasmalogens, Zellweger Syndrome, Peroxisomal Disorders, Chondrodysplasia Punctata, Rhizomelic, Peroxisomes, Refsum Disease, Infantile

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