ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy
Abstract
Summary: The adrenoleukodystrophy gene encodes a peroxisomal integral membrane protein (ALDP) consisting of 745 amino acids with a molecular weight of 75 kDa. ALDP expression was studied in fibroblasts from 24 male ALD patients from 17 unrelated ALD kindreds. In four kindreds an identical 2‐base‐pair deletion was found. We report the absence of ALDP in 12 kindreds carrying nonsense mutations, frame shifts or amino acid substitutions in the carboxy terminus of ALDP, together accounting for 71% of the ALD kindreds. ALDP was present in five kindreds (29%) with amino acid substitutions in the amino terminal half of the protein; in two of these kindreds ALDP was present although at a reduced level. The absence of truncated proteins suggests that the carboxy terminus has a function in the stabilization of ALDP.
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Many ABCD1 missense mutations affect ALDP folding and stability.
“Many ABCD1 missense mutations affect ALDP folding and stability [138,139].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [138]
Cites
Kemp, S., Ligtenberg, M. J. L., Vangeel, B. M., Barth, P. G., Wolterman, R. A., Schoute, F., Sarde, C. O., Mandel, J. L., Vanoost, B. A., & Bolhuis, P. A. (1994) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1994.1979 · Cited by 75 · see citing works
Self-citationWanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Heikoop, J., Schutgens, R. B. H., Schram, A. W., Tager, J. M., van den Bosch, H., Poll-Thé, B. T., Saudubray, J. M., et al. (1987) · Clinica Chimica Acta · doi:10.1016/0009-8981(87)90428-1 · Cited by 58 · see citing works
Self-citationPhenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins
Sobue, G., Ueno‐Natsukari, I., Okamoto, H., Connell, T. A., Aizawa, I., Mizoguchi, K., Honma, M., Ishikawa, G., Mitsuma, T., & Natsukari, N. (1994) · Annals of Neurology · doi:10.1002/ana.410360617 · Cited by 56 · see citing works
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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-citationGene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy
Kemp, S., Wei, H.-M., Lu, J.-F., Braiterman, L. T., McGuinness, M. C., Moser, A. B., Watkins, P. A., & Smith, K. D. (1998) · Nature Medicine · doi:10.1038/3242 · Cited by 249 · see citing works
Self-citationX-linked adrenoleukodystrophy in women: A cross-sectional cohort study
Engelen, M., Barbier, M., Dijkstra, I. M. E., Schür, R., de Bie, R. M. A., Verhamme, C., Dijkgraaf, M. G. W., Aubourg, P. A., Wanders, R. J. A., van Geel, B. M., et al. (2014) · Brain · doi:10.1093/brain/awt361 · Cited by 234 · 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-citationLipid metabolism in peroxisomes in relation to human disease
Wanders, R. J. A., & Tager, J. M. (1998) · Molecular Aspects of Medicine · doi:10.1016/s0098-2997(98)00003-x · Cited by 122 · see citing works
Self-citationRevisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11 · see citing works
- Authors
- Kemp, S., Mooyer, P. A. W., Bolhuis, P. A., van Geel, B. M., Mandel, J. L., Barth, P. G., Aubourg, P., & Wanders, R. J. A.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Department of Neurology Academic Medical Center Amsterdam The Netherlands
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 1995-12-05
- Volume
- 19
- Issue
- 5
- Pages
- 667-674
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W2023872989
- Cited by
- 37
- References
- 3
- Citations by year
- 2025: 2 · 2022: 1 · 2021: 2 · 2020: 1 · 2019: 2 · 2016: 2 · 2014: 2 · 2012: 1
- FWCI
- 1.56
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- HAL (submittedVersion)
- 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 › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- X-linked adrenoleukodystrophy, ALDP, peroxisomal membrane proteins, fibroblasts, nonsense mutation, frameshift mutation, amino acid substitutions, C-terminal domain, protein stability, peroxisomes
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Cell Line, Fibroblasts, Humans, Genetic Linkage, Male, Membrane Proteins, Mutation, Phenotype, X Chromosome, Gene Expression, Frameshift Mutation, Point Mutation, Sequence Deletion, ATP-Binding Cassette Transporters
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