The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy
Open accessAbstract
In this report, we describe the first known patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presented with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia. Magnetic resonance imaging showed leukencephalopathy and involvement of the thalamus and pons. Metabolite analyses of plasma revealed an accumulation of the branched-chain fatty acid pristanic acid, and abnormal bile alcohol glucuronides were excreted in urine. In cultured skin fibroblasts, the thiolytic activity of SCPx was deficient, and no SCPx protein could be detected by western blotting. Mutation analysis revealed a homozygous 1-nucleotide insertion, 545_546insA, leading to a frameshift and premature stop codon (I184fsX7).
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“However, only for SCPx, the thiolase required for the breakdown of branched-chain fatty acids, a single patient with a deficiency of the enzyme (MIM #613724) has been described so far [102].”
From Peroxisomes in brain development and function (2016) · cites this paper as [102]
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Cites
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
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
Seedorf, U., Raabe, M., Ellinghaus, P., Kannenberg, F., Fobker, M., Engel, T., Denis, S. W., Wouters, F., WIRTZ, K. W. A., Wanders, R. J. A., et al. (1998) · Genes & Development · doi:10.1101/gad.12.8.1189 · Cited by 268
Ferdinandusse, S., Denis, S., Clayton, P. T., Graham, A., Rees, J. E., Allen, J. T., McLean, B. N., Brown, A. Y., Vreken, P., Waterham, H. R., et al. (2000) · Nature Genetics · doi:10.1038/72861 · Cited by 262
Clinical and biochemical spectrum of D‐bifunctional protein deficiency
Ferdinandusse, S., Denis, S. W., Mooyer, P. A. W., Dekker, C., Durán, M., Soorani‐Lunsing, R. J., Boltshauser, E., Macaya, A., Gärtner, J., Majoie, C. B. L. M., et al. (2005) · Annals of Neurology · doi:10.1002/ana.20702 · Cited by 198
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 195
Ferdinandusse, S., Denis, S. W., Clayton, P. T., Graham, A., REES, J. E., Allen, J. T., McLean, B., Brown, A., Vreken, P., Waterham, H. R., et al. (2001) · Biochemical Society Transactions · doi:10.1042/bst029a029c · Cited by 192
Phospholipid transfer proteins revisited
WIRTZ, K. W. A. (1997) · Biochemical Journal · doi:10.1042/bj3240353 · Cited by 178
Rhizomelic Chondrodysplasia Punctata: Another Peroxisomal Disorder
Ziv, Y., Rubin, M., Lombrozo, R., Rapoport, D., & Dintsman, M. (1985) · New England Journal of Medicine · doi:10.1056/nejm198507183130322 · Cited by 161
Ferdinandusse, S., Denis, S. W., van Roermund, C. W. T., Wanders, R. J. A., & Dacremont, G. (2004) · Journal of Lipid Research · doi:10.1194/jlr.m300512-jlr200 · Cited by 144
Cited by
Sorted by citations
Peroxisomal β-oxidation—A metabolic pathway with multiple functions
Poirier, Y., Antonenkov, V. D., Glumoff, T., & Hiltunen, J. K. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.08.034 · Cited by 497
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 384
Wanders, R. J. A., Waterham, H. R., & Ferdinandusse, S. (2016) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2015.00083 · Cited by 366
Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism
Veldhoven, P. P. V. (2010) · Journal of Lipid Research · doi:10.1194/jlr.r005959 · Cited by 341
Braverman, N. E., Raymond, G. V., Rizzo, W. B., Moser, A. B., Wilkinson, M. E., Stone, E. M., Steinberg, S. J., Wangler, M. F., Rush, E. T., Hacia, J. G., et al. (2016) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.12.009 · Cited by 281
Metadata
- Authors
- Ferdinandusse, S., Kostopoulos, P., Denis, S., Rusch, H., Overmars, H., Dillmann, U., Reith, W., Haas, D., Wanders, R. J. A., Duran, M., & Marziniak, M.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Saarland University (DE)
- Heidelberg University (DE)
- Corresponding author
- Ferdinandusse, S.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2006-06
- Volume
- 78
- Issue
- 6
- Pages
- 1046-1052
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2136674380
- Cited by
- 145
- References
- 20
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 8 · 2023: 3 · 2022: 11 · 2021: 7 · 2020: 7 · 2019: 10 · 2018: 8 · 2017: 7 · 2016: 13 · 2015: 11 · 2014: 7 · 2013: 7 · 2012: 6
- FWCI
- 5.33
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- UCLA - Biblioteca de Ciencias de la Salud (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Funders
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (916.46.109)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- dystonia, motor neuropathy, torticollis, frameshift mutation, peroxisomal disorders, azoospermia, hyposmia
- MeSH terms
- Adult, Carrier Proteins, Dystonia, Fatty Acids, Humans, Magnetic Resonance Imaging, Male, Polyneuropathies, Pons, Syndrome, Thalamus, Torticollis, Dementia, Vascular, Frameshift Mutation, Codon, Nonsense, Glucuronides
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