ArticleAmerican journal of human genetics1996
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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Who cites it
21 citing papers in PubMed, 103 citations in OpenAlex.
- The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.Journal of inherited metabolic disease · 2026Article
- Twenty years of misdiagnosis of X-linked adrenoleukodystrophy: a case report.American journal of translational research · 2025Article
- AnMolecular therapy. Methods & clinical development · 2024Article
- A patient with X-linked adrenoleukodystrophy presenting with central precocious puberty: a case report.Endocrine · 2024Article
- Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP.Signal transduction and targeted therapy · 2023Article
- Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population.Frontiers in neurology · 2023Article
- Article
- Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.Scientific reports · 2020Article
- Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.JAMA network open · 2020Article
- Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy.BMC neurology · 2019Article
- A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.Case reports in genetics · 2019Article
- A Novel Variant inFrontiers in neurology · 2018Article
- Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.Nature reviews. Endocrinology · 2016Review
- Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.British journal of pharmacology · 2011Review
- Article
- Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2010Article
- Mutations in the Arabidopsis peroxisomal ABC transporter COMATOSE allow differentiation between multiple functions in planta: insights from an allelic series.Molecular biology of the cell · 2009Article
- Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.American journal of human genetics · 2002Article
- X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods.Journal of inherited metabolic disease · 1998Article
- A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation.Journal of inherited metabolic disease · 1998Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked adrenoleukodystrophy (ALD), a neurodegenerative disorder associated with impaired beta-oxidation of very-long-chain fatty acids (VLCFA), is due to mutations in a gene encoding a peroxisomal ATP-binding cassette (ABC) transporter (ALD protein [ALDP]). We analyzed the open reading frame of the ALD gene in 44 French ALD kindred by using SSCP or denaturing gradient-gel electrophoresis and studied the effect of mutations on ALDP by immunocytofluorescence and western blotting of fibroblasts and/or white blood cells. Mutations were detected in 37 of 44 kindreds and were distributed over the whole protein-coding region, with the exception of the C terminus encoded in exon 10. Except for two mutations (delAG1801 and P560L) observed four times each, nearly every ALD family has a different mutation. Twenty-four of 37 mutations were missense mutations leading to amino acid changes located in or close to putative transmembrane segments (TMS 2, 3, 4, and 5), in the EAA-like motif and in the nucleotide fold of the ATP-binding domain of ALDP. Of 38 ALD patients tested, 27 (71%) lacked ALDP immunoreactivity in their fibroblasts and/or white blood cells. More than half of missense mutations studied (11 of 21) resulted in a complete lack of ALDP immunoreactivity, and six missense mutations resulted in decreased ALDP expression. The fibroblasts and/or white blood cells of 15 of 15 heterozygous carrier from ALD kindred with no ALDP showed a mixture of positive- and negative-ALDP immunoreactivity due to X-inactivation. Since 5%-15% of heterozygous women have normal VLCFA levels, the immunodetection of ALDP in white blood cells can be applicable in a majority of ALD kindred, to identify heterozygous women, particularly when the ALD gene mutation has not yet been identified.
Indexed as
Identifiers
8651290PMC1915047W1564094776What OpenQuestion holds
Registered trials
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