Cited by 137Metabolism and Genetic DisordersLipid metabolism and biosynthesisLysosomal Storage Disorders Research

The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.

FATTY ACID ABNORMALITY IN ADRENOLEUKODYSTROPHY

Igarashi, M., Schaumburg, H. H., Powers, J., Kishimoto, Y., Koilodny, E., Suzuki, K.·1976·Journal of Neurochemistry

DOI 10.1111/j.1471-4159.1976.tb04461.x-i1

Open this paper in CoChat — free account

Abstract

—Recent clinical and morphological evidence established that adrenoleukodystrophy is a distinct X‐linked genetic disorder. Fatty acid compositions of lipids in the brain, adrenal and serum from seven patients were examined. Cholesterol esters of both brain and adrenal contained substantial proportions of fatty acids longer than C 22 (11.8–41.9% of total in the brain and 13.4‐34.8% of total in the adrenal), while cholesterol esters from normal and pathological control specimens contained very little. These very long chain fatty acids were generally saturated in brain cholesterol esters but significant amounts of unsaturated long chain fatty acids were also present in adrenal cholesterol esters. The long chain fatty acids showed bell‐shaped distribution with C 25 or C 26 at the peak. Ganglio‐sides from patients’white matter also showed increased proportions of very long‐chain fatty acids, up to 50% of the total. Qualitatively similar but much milder fatty acid abnormalities were also found in galactosylceramide of the brain. On the other hand, fatty acids and fatty aldehydes of brain glycerophospholipids, adrenal free fatty acids, triglycerides and glycerophospholipids were not abnormal. Furthermore, serum cholesterol esters from two patients did not show the long‐chain fatty acid abnormality found in brain and adrenal cholesterol esters. Sequential extractions with acetone and hexane established that the characteristic birefringent material in the brain and adrenal is indeed cholesterol esters with very long chain fatty acids. This type of fatty acid abnormality has not been described in other pathological conditions and may well represent the unique biochemical abnormality that is directly related to the fundamental genetic defect underlying adrenoleukodystrophy.

Integrity signals

Registry

Crossref · 10.1111/j.1471-4159.1976.tb04461.x-i1

Cites

33 of 33 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

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?

A SIMPLE METHOD FOR THE ISOLATION AND PURIFICATION OF TOTAL LIPIDES FROM ANIMAL TISSUES
Folch, J., Lees, M., & Stanley, G. H. S. (1957) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)64849-5 · Cited by 65,189
Preparation of fatty acid methyl esters and dimethylacetals from lipids with boron fluoride–methanol
Morrison, W. R., & Smith, L. M. (1964) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)40190-7 · Cited by 6,005
Gas-Liquid Chromatography of Trimethylsilyl Derivatives of Sugars and Related Substances
Sweeley, C. C., Bentley, R., Makita, M., & Wells, W. W. (1963) · Journal of the American Chemical Society · doi:10.1021/ja00899a032 · Cited by 2,183
CHROMATOGRAPHlC SEPARATION OF HUMAN BRAIN GANGLIOSIDES*
Svennerholm, L. (1963) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1963.tb08933.x · Cited by 1,648
Handbook of Clinical Neurology
Benton, A. L. (1970) · Neurology · doi:10.1212/wnl.20.12.1220 · Cited by 1,104
Separation of lipid classes by chromatography on florisil
Carroll, K. K. (1961) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)39021-0 · Cited by 533
Adrenoleukodystrophy: A Clinical and Pathological Study of 17 Cases
Schaumburg, H. H. (1975) · Archives of Neurology · doi:10.1001/archneur.1975.00490510033001 · Cited by 475
Self-citation
The mechanism of the plasma cholesterol esterification reaction: Plasma fatty acid transferase
Glomset, J. A. (1962) · Biochimica et Biophysica Acta · doi:10.1016/0006-3002(62)90156-7 · Cited by 371
Separation of tissue cholesterol esters and triglycerides by silicic acid chromatography
Horning, M. G., Williams, E., & Horning, E. C. (1960) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)41237-4 · Cited by 123
Study of Ionic Structures in Phospholipids by Infrared Spectra
Abramson, M. B., Norton, W. T., & Katzman, R. (1965) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)97335-7 · Cited by 104

Show all 33 references

Research works printed but not linked: 4

Glomset J. A., 1964, Biochim. biophys. Acta, 89, 266
Norman R. M., 1963, Brain Lipids and Liproproteins, and the Leucodystrophies, 169
Powers J. M., 1973, Archs. Path., 96, 305
Powers J. M., 1974, Am. J. Path., 76, 481

Sorted by citations

Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy
Moser, H. W., Moser, A. E., Singh, I., & OʼNeill, P. (1984) · Annals of Neurology · doi:10.1002/ana.410160603 · Cited by 258
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes
Kelley, R. I., Datta, N. S., Dobyns, W. B., Hajra, A. K., Moser, A. B., Noetzel, M. J., Zackai, E. H., Moser, H. W., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320230404 · Cited by 219
X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies
Turk, B. R., Theda, C., Fatemi, A. S., & Moser, A. B. (2020) · International Journal of Developmental Neuroscience · doi:10.1002/jdn.10003 · Cited by 212
Peroxisomal Disorders: Genotype, Phenotype, Major Neuropathologic Lesions, and Pathogenesis
Powers, J. M., & Moser, H. W. (1998) · Brain Pathology · doi:10.1111/j.1750-3639.1998.tb00139.x · Cited by 208
“ganglioside (35), phosphatidylcholine (116), proteolipid protein (PLP) (5), and cholesteryl ester fractions (34).”
BackgroundSelf-citation
Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts
Moser, H. W., Moser, A., Kawamura, N., Murphy, J., Suzuki, K., Schaumburg, H., & Kishimoto, Y. (1980) · Annals of Neurology · doi:10.1002/ana.410070607 · Cited by 196
Self-citation
Very long chain fatty acids in higher animals: a review
Poulos, A. (1995) · Lipids · doi:10.1007/bf02537036 · Cited by 192
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
“In X-ALD, a mutation in the gene ABCD1, a member of the adenosine triphosphate–binding cassette (ABC) transporter family,(2,3) invariably leads to accumulation of unbranched saturated very-long-chain fatty acids (VLCFAs), particularly in brain and adrenal cortex.(4,5) Classic studies showed VLCFAs in ganglioside, phos…”
Background
Lignoceroyl‐CoASH ligase: enzyme defect in fatty acid β‐oxidation system in X‐linked childhood adrenoleukodystrophy
Hashmi, M., Stanley, W. S., & Singh, I. (1986) · FEBS Letters · doi:10.1016/0014-5793(86)80256-3 · Cited by 162
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy
Engelen, M., van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., et al. (2022) · Neurology · doi:10.1212/wnl.0000000000201374 · Cited by 156
“VLCFAs in plasma are a diagnostic marker.(5,6) Patients are asymptomatic at birth but develop symptoms as the disease progresses.”
Background
Peroxisomal Defects in Neonatal-Onset and X-Linked Adrenoleukodystrophies
Goldfischer, S. L., Collins, J. C., Rapin, I., Coltoff-Schiller, B., Chang, C., Nigro, M. A., Black, V. H., Javitt, N. B., Moser, H. W., & Lazarow, P. B. (1985) · Science · doi:10.1126/science.3964959 · Cited by 151
Biochemistry of peroxisomes in health and disease
Singh, I. (1997) · Molecular and Cellular Biochemistry · doi:10.1023/a:1006883229684 · Cited by 146
“All forms of X-ALD accumulate approximately similar concentrations of VLC in fibroblasts and plasma [10, 11, 270, 271].”
Background
General aspects and neuropathology of X-linked adrenoleukodystrophy
Ferrer, I., Aubourg, P., & Pujol, A. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00390.x · Cited by 139
“A main component of myelin sheaths, the proteolipid protein of myelin, PLP, is enriched in VLCFA in X-ALD (14, 48, 63, 97, 138).”
Background
Multislice proton magnetic resonance spectroscopic imaging in X‐linked adrenoleukodystrophy
Kruse, B., Barker, P. B., van Zijl, P. C. M., Duyn, J. H., MOONEN, C. T. W., & Moser, H. W. (1994) · Annals of Neurology · doi:10.1002/ana.410360408 · Cited by 121
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
“Biochemical analysis of these inclusion bodies revealed that they contained cholesterol, phospholipids and gangliosides esterified with saturated VLCFA (29).”
Background
X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy
van Geel, B. M., Assies, J., Wanders, R. J. A., & Barth, P. G. (1997) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.63.1.4 · Cited by 162
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage
Ferrer, I., Kapfhammer, J. P., Hindelang, C., Kemp, S., Troffer-Charlier, N., Broccoli, V., Callyzot, N., Mooyer, P., Selhorst, J., Vreken, P., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi384 · Cited by 106
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
“With abnormally high VLCFA levels, primary manifestations occur in the nervous system, the adrenal cortex, and the Leydig cells of the testis.(3,4) X-ALD, with an incidence of 1 in 20,000 males, shows a wide range of phenotypic variability including: (1) the most severe childhood cerebral form (CCALD, onset at 3–10 ye…”
Background
Abnormality of Long‐Chain Fatty Acids in Erythrocyte Membrane Sphingomyelin from Patients with Adrenoleukodystrophy
Tsuji, S., Suzuki, M., Ariga, T., Sekine, M., Kuriyama, M., & Miyatake, T. (1981) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1981.tb01698.x · Cited by 96
Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy.
Knazek, R. A., Rizzo, W. B., Schulman, J. D., & Dave, J. R. (1983) · Journal of Clinical Investigation · doi:10.1172/jci110963 · Cited by 97
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 92
“(1), the most common peroxisomal disorder (2,3).”
X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment
Kemp, S., & Wanders, R. J. A. (2007) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.10.001 · Cited by 82
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
Self-citation
The protein coded by the X‐adrenoleukodystrophy gene is a peroxisomal integral membrane protein
Contreras, M., Mosser, J., Mandel, J.-L., Aubourg, P., & Singh, I. (1994) · FEBS Letters · doi:10.1016/0014-5793(94)00400-5 · Cited by 77
Opsonization with Antimyelin Antibody Increases the Uptake and Intracellular Metabolism of Myelin in Inflammatory Macrophages
Trotter, J., deJong, L. J., & Smith, M. E. (1986) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1986.tb00679.x · Cited by 73
Very long chain fatty acids in X‐linked adrenoleukodystrophy brain after treatment with Lorenzo's oil
Poulos, A., Gibson, R. A., Sharp, P. C., Beckman, K., & Grattan‐Smith, P. J. (1994) · Annals of Neurology · doi:10.1002/ana.410360509 · Cited by 72
Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy
Huffnagel, I. C., van de Beek, M.-C., Showers, A. L., Orsini, J. J., Klouwer, F. C. C., Dijkstra, I. M. E., Schielen, P. C., van Lenthe, H., Wanders, R. J. A., Vaz, F. M., et al. (2017) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2017.10.012 · Cited by 71
“tissues [6,7], including the white matter of the brain, spinal cord, and adrenal cortex [8,9].”
Background
Adrenoleukodystrophy: Impaired oxidation of fatty acids due to peroxisomal lignoceroyl-CoA ligase deficiency
Lazo, O., Contreras, M., Bhushan, A., Stanley, W. S., & Singh, I. (1989) · Archives of Biochemistry and Biophysics · doi:10.1016/0003-9861(89)90555-9 · Cited by 70
Transplantation in inborn errors of metabolism: current considerations and future perspectives
Boelens, J. J., Orchard, P. J., & Wynn, R. F. (2014) · British Journal of Haematology · doi:10.1111/bjh.13059 · Cited by 66
“In 1976 it was demonstrated that very long chain fatty acids (VLCFAs) accumulate in the brain and adrenal tissue of patients with ALD (Igarashi et al, 1976).”
Background
X‐linked adrenoleukodystrophy: Therapeutic approaches to distinct phenotypes
Mahmood, A., Dubey, P., Moser, H. W., & Moser, A. B. (2005) · Pediatric Transplantation · doi:10.1111/j.1399-3046.2005.00447.x · Cited by 63
Accumulation and defective β‐oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants
Poulos, A., Singh, H., Paton, B. C., Sharp, P. C., & Derwas, N. (1986) · Clinical Genetics · doi:10.1111/j.1399-0004.1986.tb00511.x · Cited by 63
Lipid 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
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
Ocular Histopathologic and Biochemical Studies of the Cerebrohepatorenal Syndrome (Zellweger's Syndrome) and its Relationship to Neonatal Adrenoleukodystrophy
Cohen, S. M. Z., Brown, F. R., Martyn, L. J., Moser, H. W., Chen, W., Kistenmacher, M. L., Punnett, H. H., Grover, W. D., de la Cruz, Z. C., Chan, N. R., et al. (1983) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)77913-9 · Cited by 61
Molecular Species of Phosphatidylcholine Containing Very Long Chain Fatty Acids in Human Brain: Enrichment in X‐Linked Adrenoleukodystrophy Brain and Diseases of Peroxisome Biogenesis Brain
Sharp, P. C., Johnson, D., & Poulos, A. (1991) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1991.tb02558.x · Cited by 58
Mutational Analysis and Genotype-Phenotype Correlation of 29 Unrelated Japanese Patients With X-linked Adrenoleukodystrophy
Takano, H., Koike, R., Onodera, O., Sasaki, R., & Tsuji, S. (1999) · Archives of Neurology · doi:10.1001/archneur.56.3.295 · Cited by 59
“Adrenoleukodystrophyisbiochemicallycharacterized by increased levelsof saturatedunbranchedvery longchain fattyacids(VLCFAs) invarious tissues, including thewhite matter of the central nervous system, adrenal gland, testis, erythrocytemembrane, leukocytes, andplasma.(15-21) The increased levels of VLCFAs in ALD is gene…”
Background
Visual evoked potentials in adrenolukodystrophy: A trial with glycerol trioleate and Lorenzo oil
Kaplan, P. W., Tusa, R. J., Shankroff, J., Heller, J., & Moser, H. W. (1993) · Annals of Neurology · doi:10.1002/ana.410340212 · Cited by 55
Animal Models of Demyelination
Bradl, M., & Linington, C. (1996) · Brain Pathology · doi:10.1111/j.1750-3639.1996.tb00857.x · Cited by 55
Microglial dysfunction as a key pathological change in adrenomyeloneuropathy
Gong, Y., Sasidharan, N., Laheji, F., Frosch, M., Musolino, P., Tanzi, R., Kim, D. Y., Biffi, A., El Khoury, J., & Eichler, F. (2017) · Annals of Neurology · doi:10.1002/ana.25085 · Cited by 54
Myelin Membrane from Adrenoleukodystrophy Brain White Matter—Biochemical Properties
Brown, F., Chen, W., Kirschner, D. A., Frayer, K. L., Powers, J. M., Moser, A. B., & Moser, H. W. (1983) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1983.tb04748.x · Cited by 43
Self-citation
Inherited Metabolic Diseases of the Nervous System
Brady, R. O. (1976) · Science · doi:10.1126/science.822514 · Cited by 52
X‐linked adrenoleukodystrophy: Biochemical diagnosis and enzyme defect
Wanders, R. J. A., van Roermund, C. W. T., Lageweg, W., Jakobs, B. S., Schutgens, R. B. H., Nijenhuis, A. A., & Tager, J. M. (1992) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799620 · Cited by 51
Neonatal‐onset adrenoleukodystrophy in a girl
Haas, J. E., Johnson, E. S., & Farrell, D. L. (1982) · Annals of Neurology · doi:10.1002/ana.410120507 · Cited by 51
Adrenoleukodystrophy: natural history, treatment and outcome
Moser, H. W. (1995) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00710055 · Cited by 49
Ocular Histopathologic Studies of Neonatal and Childhood Adrenoleukodystrophy
Brown, F. R., Moser, H. W., Cohen, S. M. Z., Green, W. R., de la Cruz, Z. C., Luckenbach, M. W., Dove, D. J., & Maumenee, I. H. (1983) · American Journal of Ophthalmology · doi:10.1016/0002-9394(83)90336-7 · Cited by 46
Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy
Jaspers, Y. R. J., Yska, H. A. F., Bergner, C. G., Dijkstra, I. M. E., Huffnagel, I. C., Voermans, M. M. C., Wever, E. J. M., Salomons, G. S., Vaz, F. M., Jongejan, A., et al. (2024) · Communications Medicine · doi:10.1038/s43856-024-00605-9 · Cited by 49
Neurodevelopmental Outcome after Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Current Considerations and Future Perspectives
van Hasselt, P. M., & Boelens, J. J. (2016) · Neuropediatrics · doi:10.1055/s-0036-1584602 · Cited by 40
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
“The principal biochemical defect is the accumulation of saturated very long-chain fatty acids in tissues.(4,5) There is wide phenotypic heterogeneity in X-ALD, which cannot be explained by mutation pattern.”
Background
Inborn errors of metabolism
Kolodny, E. H., & Cable, W. J. L. (1982) · Annals of Neurology · doi:10.1002/ana.410110302 · Cited by 37
Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locus
Heffungs, W., Hameister, H., & Ropers, H. (1980) · Clinical Genetics · doi:10.1111/j.1399-0004.1980.tb00868.x · Cited by 36
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
Priestley, J. R. C., Adang, L. A., Drewes Williams, S., Lichter-Konecki, U., Menello, C., Engelhardt, N. M., DiPerna, J. C., DiBoscio, B., Ahrens-Nicklas, R. C., Edmondson, A. C., et al. (2022) · International Journal of Neonatal Screening · doi:10.3390/ijns8020024 · Cited by 35
Anti-Ganglioside Antibodies Bind with Enhanced Affinity to Gangliosides Containing Very Long Chain Fatty Acids
Tagawa, Y., Laroy, W., Nimrichter, L., Fromholt, S., Moser, A. B., Moser, H. W., & Schnaar, R. L. (2002) · Neurochemical Research · doi:10.1023/a:1020221410895 · Cited by 34
“VLCFA levels have been shown to be increased in several lipid classes, including cholesterol esters (14), proteolipids (49), glycerophosphatides (50), and gangliosides (14,12).”
Background
Nervonic Acid Attenuates Accumulation of Very Long-Chain Fatty Acids and is a Potential Therapy for Adrenoleukodystrophy
Terluk, M. R., Tieu, J., Sahasrabudhe, S. A., Moser, A. B., Watkins, P. A., Raymond, G. V., & Kartha, R. V. (2022) · Neurotherapeutics · doi:10.1007/s13311-022-01226-7 · Cited by 34
Specificities of Human and Rat Brain Enzymes of Cholesterol Ester Metabolism Toward Very Long Chain Fatty Acids: Implication for Biochemical Pathogenesis of Adrenoleukodystrophy
Ogino, T., & Suzuki, K. (1981) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1981.tb01657.x · Cited by 32
“[4-1'C]Cholesteryl lignocerate and cerotate were synthesized according to the method of Pinter et al. (1964) and Prabhudesai (1976).”
BackgroundMethodInfluentialSelf-citation
PEROXISOMES AND HUMAN METABOLIC DISEASES: THE CEREBROHEPATORENAL SYNDROME (CHRS), CEREBROTENDINOUS XANTHOMATOSIS, AND SCHILDER'S DISEASE (ADRENOLEUKODYSTROPHY)*
Goldfischer, S. L. (1982) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1982.tb21470.x · Cited by 32
Peroxisomal disorders: Clinical commentary and future prospects
Wilson, G. N., Holmes, R., Hajra, A. K., Opitz, J. M., & Reynolds, J. F. (1988) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320300311 · Cited by 31
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
N-Acetylcysteine Reverses the Mitochondrial Dysfunction Induced by Very Long-Chain Fatty Acids in Murine Oligodendrocyte Model of Adrenoleukodystrophy
Zhou, J., Terluk, M. R., Orchard, P. J., Cloyd, J. C., & Kartha, R. V. (2021) · Biomedicines · doi:10.3390/biomedicines9121826 · Cited by 30
History of Adrenal Research: From Ancient Anatomy to Contemporary Molecular Biology
Miller, W. L., & White, P. C. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnac019 · Cited by 32
Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need
Honey, M. I. J., Jaspers, Y. R. J., Engelen, M., Kemp, S., & Huffnagel, I. C. (2021) · Cells · doi:10.3390/cells10123427 · Cited by 28
ADRENOLEUKODYSTROPHY: CLINICAL, PATHOLOGICAL AND BIOCHEMICAL FINDINGS IN TWO BROTHERS WITH THE ONSET OF CEREBRAL DISEASE IN ADULT LIFE
Esiri, M. M., HYMAN, M., Horton, L. W. L., & Lindenbaum, R. H. (1984) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.1984.tb00392.x · Cited by 27
Reverse Phase High‐Performance Liquid Chromatography of Cerebrosides, Sulfatides and Ceramides: Microanalysis of Homolog Composition Without Hydrolysis and Application to Cerebroside Analysis in Peripheral Nerves of Adrenoleukodystrophy Patients
Yahara, S., Moser, H. W., Kolodny, E. H., et al. (1980) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1980.tb11199.x · Cited by 27
“An attempt to elucidate cerebroside homolog composition by reverse phase HPLC was first reported by Suzuki et al. (1976) on perbenzoylated glucocerebroside and later from this laboratory on perbenzoylated cerebroside (Nonaka and Kishimoto, 1979a).”
BackgroundInfluentialSelf-citation
Adrenoleukodystrophy: Molecular Genetics, Pathology, and Lorenzo's oil
Moser, H. W., Powers, J. M., & Smith, K. D. (1995) · Brain Pathology · doi:10.1111/j.1750-3639.1995.tb00602.x · Cited by 26
Self-citation
Peroxisomal Proliferation in Heart and Liver of Mice Receiving Chlorpromazine, Ethyl 2(5(4-Chlorophenyl)Pentyl) Oxiran-2-Carboxylic Acid or High Fat Diet: A Biochemical and Morphometrical Comparative Study
Vamecq, J., Roels, F., Branden, C. V. D., et al. (1987) · Pediatric Research · doi:10.1203/00006450-198712000-00027 · Cited by 26
Erucic Acid is Differentially Taken up and Metabolized in Rat Liver and Heart
Murphy, C. C., Murphy, E. J., & Golovko, M. Y. (2008) · Lipids · doi:10.1007/s11745-008-3168-3 · Cited by 23
Profiling and Imaging of Phospholipids in Brains of Abcd1‐Deficient Mice
Hama, K., Fujiwara, Y., Morita, M., Yamazaki, F., Nakashima, Y., Takei, S., Takashima, S., Setou, M., Shimozawa, N., Imanaka, T., et al. (2018) · Lipids · doi:10.1002/lipd.12022 · Cited by 22
Peroxisomal Diseases
Moser, H. W. (1989) · Advances in Pediatrics · doi:10.1016/s0065-3101(24)00132-4 · Cited by 23
A study of urinary metabolites in patients with dicarboxylic aciduria for differential diagnosis
SHIMIZU, N., Yamaguchi, S., & Orii, T. (1994) · Pediatrics International · doi:10.1111/j.1442-200x.1994.tb03149.x · Cited by 21
Adrenoleukodystrophy: biochemical procedures in diagnosis, prevention and treatment
Watkins, P. A., Naidu, S., & Moser, H. W. (1987) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01812846 · Cited by 20
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
“Impaired peroxisomal beta-oxidation of VLCFA ( ≥ C22:0) as the biochemical defect underlying ALD with VLCFA accumulation in all tissues was described many decades ago [4, 5].”
Background
Molecular Species of Phospholipids with Very Long Chain Fatty Acids in Skin Fibroblasts of Zellweger Syndrome
Hama, K., Nagai, T., 西澤, 千., Ikeda, K., Morita, M., Satoh, N., Nakanishi, H., Imanaka, T., Shimozawa, N., Taguchi, R., et al. (2013) · Lipids · doi:10.1007/s11745-013-3848-5 · Cited by 21
“Elevation of VLCFA concentrations in X-ALD and Zellweger syndrome in humans was first reported in 1976 [8] and 1982 [9], respectively.”
Background
Endoneurial lipid composition of normal human sural nerve
Brown, M. J., Iwamori, M., Kishimoto, Y., et al. (1979) · Annals of Neurology · doi:10.1002/ana.410050305 · Cited by 20
“Adrenoleukodystrophy is one example of such a disorder [18].”
BackgroundSelf-citation
EFFECT OF EXOGENOUS LIPIDS ON ACTIVITIES OF THE RAT BRAIN CHOLESTEROL ESTER HYDROLASE LOCALIZED IN THE MYELIN SHEATH1
Igarashi, M., & Suzuki, K. (1976) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1976.tb05147.x · Cited by 20
Self-citation
Free Fatty Acid Composition of Human and Rat Peripheral Nerve
Yao, J. K., Dyck, P. J. B., VanLoon, J. A., et al. (1981) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1981.tb01720.x · Cited by 20
Endocrine dysfunction in adrenoleukodystrophy
Engelen, M., Kemp, S., & Eichler, F. (2021) · Handbook of clinical neurology · doi:10.1016/b978-0-12-819973-2.00018-6 · Cited by 20
Evaluation of Therapy of X-Linked Adrenoleukodystrophy
Moser, H. W., Fatemi, A. S., Zackowski, K. M., Smith, S., Golay, X., Muenz, L. R., & Raymond, G. V. (2004) · Neurochemical Research · doi:10.1023/b:nere.0000021245.12181.90 · Cited by 17
“Enhancement is scored either present (1) or absent (0).”
Background
Lipid Metabolism in Peripheral Nerve Cell Culture (Rich in Schwann Cells) from Normal and Trembler Mice
Bourre, J. M., Morand, O. H., Dumont, O., et al. (1981) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1981.tb00451.x · Cited by 16
Glycosphingolipids with Very Long-Chain Fatty Acids Accumulate in Fibroblasts from Adrenoleukodystrophy Patients
Fujiwara, Y., Hama, K., Shimozawa, N., & Yokoyama, K. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22168645 · Cited by 15
Baicalein 5,6,7‐trimethyl ether activates peroxisomal but not mitochondrial fatty acid β‐oxidation
Morita, M., Kanai, M., Mizuno, S., Iwashima, M., Hayashi, T., Shimozawa, N., Suzuki, Y., & Imanaka, T. (2008) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-008-0857-2 · Cited by 15
Stereological analysis of peroxisomes and mitochondria in intestinal epithelium of patients with peroxisomal deficiency disorders: Zellweger's syndrome and neonatal‐onset adrenoleukodystrophy
Black, V. H., & Cornacchia, L. (1986) · American Journal of Anatomy · doi:10.1002/aja.1001770112 · Cited by 15
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene
van de Stadt, S. I. W., Mooyer, P. A. W., Dijkstra, I. M. E., Dekker, C. J. M., Vats, D., Vera, M., Ruzhnikov, M. R. Z., van Haren, K., Tang, N., Koop, K., et al. (2021) · Genes · doi:10.3390/genes12121930 · Cited by 14
“As a consequence, VLCFAs accumulate in plasma and tissues; primarily in the adrenal cortex, brain white matter and spinal cord [2,5].”
Background
Mitochondrial, but not peroxisomal, β-oxidation of fatty acids is conserved in coenzyme A-Deficient rat liver
Youssef, J., Song, W. O., & Badr, M. Z. (1997) · Molecular and Cellular Biochemistry · doi:10.1023/a:1006877021617 · Cited by 12
“Defective peroxisomal fatty acid oxidation leads to the accumulation of very long-chain fatty acids which is a characteristic feature of human peroxisomal disorders [47, 48].”
Background
Adrenoleukodystrophy: A correlation between saturated very long‐chain fatty acids in mononuclear cells and phenotype
Antoku, Y., Koike, F., Ohtsuka, Y., et al. (1991) · Annals of Neurology · doi:10.1002/ana.410300118 · Cited by 12
Cholesteryl Lignocerate Hydrolysis in Adrenoleukodystrophy
Michels, V. V., & Beaudet, A. L. (1980) · Pediatric Research · doi:10.1203/00006450-198001000-00006 · Cited by 12
Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11
Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry
Jaspers, Y. R. J., Meyer, S. W., Pras‐Raves, M. L., Dijkstra, I. M. E., Wever, E. J. M., Dane, A. D., van Klinken, J. B., Salomons, G. S., Houtkooper, R. H., Engelen, M., et al. (2024) · Journal of Lipid Research · doi:10.1016/j.jlr.2024.100567 · Cited by 11
“These fractions include phosphatidylcholines (PCs), cholesterol esters (CEs), and triacylglycerols (TGs) (20, 21).”
Background
Incorporation of Very‐Long‐Chain Fatty Acids into Sphingolipids of Cultured Neural Cells
Saito, M., & Saito, M. (1991) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1991.tb03774.x · Cited by 10
Adrenoleukodystrophy: diagnosis and carrier detection by determination of long‐chain fatty acids in cultured fibroblasts
Tönshoff, B., Lehnert, W., & Ropers, H. (1982) · Clinical Genetics · doi:10.1111/j.1399-0004.1982.tb01406.x · Cited by 10
Protective effect of oleic acid against very long-chain fatty acid-induced apoptosis in peroxisome-deficient CHO cells
Ali, H., Yamanishi, M., Sunagawa, K., Kumon, M., Hasi, R. Y., Aihara, M., Kawakami, R., & Tanaka, T. (2024) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2024.159452 · Cited by 8
Beneficial Effects of the Direct AMP-Kinase Activator PXL770 in In Vitro and In Vivo Models of X-Linked Adrenoleukodystrophy
Monternier, P., Parasar, P., Theurey, P., Dagorn, P. G., Kaur, N., Nagaraja, T. N., Fouqueray, P., Bolze, S., Moller, D. E., Singh, J., et al. (2022) · Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.122.001208 · Cited by 9
“Its dysfunction causes VLCFA accumulation in plasma and in cells in all tissues including brain, adrenal cortex and spinal cord (Igarashi et al., 1976; Valianpour et al., 2003; Singh and Pujol, 2010; Engelen et al., 2012).”
Background
Progressive Genetic-Metabolic Diseases of the Central Nervous System in Children
Rapin, I. (1976) · Pediatric Annals · doi:10.3928/0090-4481-19760501-07 · Cited by 8
Adrenoleukodystrophy (Siemerling‐Creutzfeldt disease): Heterozygote with two clonal fibroblast populations
Ropers, H., Zimmermann, J., & Wienker, T. F. (1977) · Clinical Genetics · doi:10.1111/j.1399-0004.1977.tb01287.x · Cited by 8
Stem cell-transplantation therapy for adrenoleukodystrophy: current perspectives
Miller, W. P. (2017) · Journal of Neurorestoratology · doi:10.2147/jn.s99304 · Cited by 7
Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy
van Ballegoij, W. J. C., van de Stadt, S. I. W., Huffnagel, I. C., Kemp, S., van der Knaap, M. S., & Engelen, M. (2020) · Frontiers in Physiology · doi:10.3389/fphys.2020.00786 · Cited by 7
Drug discovery for X‐linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long‐chain fatty acids
Moser, A. B., Liu, Y., Shi, X., Schrifl, U., Hiebler, S., Fatemi, A. S., Braverman, N., Steinberg, S. J., & Watkins, P. A. (2021) · Journal of Cellular Biochemistry · doi:10.1002/jcb.30014 · Cited by 7
“Elevated plasma and tissue levels of VLCFA are considered to be the biochemical hallmark of XALD.5,6 Several studies have explored the impact of impaired VLCFA metabolism on various cellular pathways.”
BackgroundInfluential
A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum
Lee, J., Yergeau, C., Kawai, K., et al. (2021) · Ear and Hearing · doi:10.1097/aud.0000000000001126 · Cited by 7
“Atrophy of the tectorial membrane/stria vascularis and loss of hair cells/spiral ganglion neurons have all been suggested to contribute to the hearing loss associated with PBD-ZSD (Igarashi et al. 1976; Torvik et al. 1988; Weller et al. 2003).”
Background
Lipid Biomarkers for the Peroxisomal and Lysosomal Disorders: Their Formation, Metabolism and Measurement
Mashima, R., & Maekawa, M. (2017) · Biomarkers in Medicine · doi:10.2217/bmm-2017-0225 · Cited by 8
Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy
Yska, H. A. F., Stellingwerff, M. D., Roosendaal, S. D., Voermans, M. M. C., van der Knaap, M. S., Pouwels, P. J. W., & Engelen, M. (2025) · Brain Communications · doi:10.1093/braincomms/fcaf371 · Cited by 5
“4,5 Despite numerous studies, pathophysiology remains incompletely understood.”
Adrenoleukodystrophy
Engelen, M., Kemp, S., & Eichler, F. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00022-3 · Cited by 5
Lipids in inflammasome activation and autoinflammatory disorders
Wouters, F., van der Hilst, J. C. H., & Bogie, J. F. J. (2023) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2023.10.008 · Cited by 6
Peroxisomal Disorders
Pennesi, M. E., & Weleber, R. G. (2012) · Oxford University Press eBooks · doi:10.1093/med/9780195326147.003.0044 · Cited by 4

Authors: Igarashi, M., Schaumburg, H. H., Powers, J., Kishimoto, Y., Koilodny, E., & Suzuki, K.
Affiliations: Albert Einstein College of Medicine (US)
Corresponding author: Suzuki, K.
ORCID: Powers, J.
Venue: Journal of Neurochemistry
Publisher: Wiley
Published: 1976-04
Volume: 26
Issue: 4
Pages: 851-860
ISSN: 0022-3042 (ISSN-L)
1471-4159
DOI: 10.1111/j.1471-4159.1976.tb04461.x-i1
OpenAlex: W4232666095
Cited by: 134
References: 33
Citations by year: 2026: 3 · 2025: 6 · 2024: 12 · 2023: 1 · 2022: 5 · 2021: 7 · 2020: 5 · 2019: 1 · 2018: 2 · 2017: 3 · 2016: 4 · 2014: 2 · 2013: 1 · 2012: 1
FWCI: 2.73
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 11143 d)
Locations: Journal of Neurochemistry (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Lipid metabolism and biosynthesis
Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
Keywords: adrenoleukodystrophy, very long chain fatty acids, cholesterol esters, fatty acid composition, brain lipids, gangliosides, galactosylceramide, X-linked disorders, white matter pathology, birefringent materials

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.

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

FATTY ACID ABNORMALITY IN ADRENOLEUKODYSTROPHY

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks