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Article

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy.

Journal of inherited metabolic disease - 1 Jan 1996

Kemp S, Mooyer P A, Bolhuis P A, van Geel B M, Mandel J L, Barth P G, Aubourg P, Wanders R J

Abstract excerpt

The adrenoleukodystrophy gene encodes a peroxisomal integral membrane protein (ALDP) consisting of 745 amino acids with a molecular weight of 75kDa. 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...

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Identifiers

PMID: 8892025
DOI: 10.1007/BF01799844

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy.PMID 8892025Read ↗

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The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane proteinSemantic proximity Read ↗

Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.Semantic proximity Read ↗

Mutational analysis of patients with X-linked adrenoleukodystrophy.Semantic proximity Read ↗

Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.Semantic proximity Read ↗

Protease inhibitors suppress the degradation of mutant adrenoleukodystrophy proteins but do not correct impairment of very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.Semantic proximity Read ↗

A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern.Semantic proximity Read ↗

Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy.Semantic proximity Read ↗

Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.Semantic proximity Read ↗

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