Associated Papers
Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Chen ZP et al.
Nature Communications, 2022
Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort.
Mao C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.
Mallack EJ et al.
Cells, 2022
Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.
Liu S et al.
Molecular Genetics & Genomic Medicine, 2022
Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.
Dong B et al.
International Journal of Endocrinology, 2022
Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4.
Kawaguchi K et al.
Chemical & Pharmaceutical Bulletin, 2022
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Matteson J et al.
International Journal of Neonatal Screening, 2021
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.
Chu SS et al.
World Journal of Pediatrics : Wjp, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression.
Zhang X et al.
The Biochemical Journal, 2011
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation.
Soardi FC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
Takahashi N et al.
Journal of Neurochemistry, 2007
[Adrenoleukodystrophy: structure and function of ALDP, and intracellular behavior of mutant ALDP with naturally occurring missense mutations].
Takahashi N et al.
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2007
A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective.
Berger J et al.
Human Mutation, 2000
Mutational analysis of X-linked adrenoleukodystrophy gene.
Takano H et al.
Cell Biochemistry and Biophysics, 2000
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999
Characterization and analysis of conserved motifs in a peroxisomal ATP-binding cassette transporter.
Shani N et al.
The Journal of Biological Chemistry, 1996
Mutational analysis of patients with X-linked adrenoleukodystrophy.
Kok F et al.
Human Mutation, 1995