Associated Papers
Structural basis of acyl-CoA transport across the peroxisomal membrane by human ABCD1.
Wang R et al.
Cell Research, 2022
Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience.
Burton BK et al.
International Journal of Neonatal Screening, 2022
A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review.
Zhang Y et al.
Genes & Diseases, 2021
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Matteson J et al.
International Journal of Neonatal Screening, 2021
Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.
Raas Q et al.
The Journal of Clinical Investigation, 2021
Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy.
Li J et al.
Bmc Neurology, 2019
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Schackmann MJ et al.
Molecular Genetics and Metabolism, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
Park HJ et al.
Yonsei Medical Journal, 2014
X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
Kemp S et al.
Biochimica Et Biophysica Acta, 2012
A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy.
Park JA et al.
Gene, 2012
X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.
Engelen M et al.
Journal of the Peripheral Nervous System : Jpns, 2011
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
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Kemp S et al.
Human Mutation, 2001
Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.
Lu K et al.
American Journal of Human Genetics, 2001
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.
Lee MH et al.
Nature Genetics, 2001
Mutational analysis of X-linked adrenoleukodystrophy gene.
Takano H et al.
Cell Biochemistry and Biophysics, 2000
Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
Liu LX et al.
The Journal of Biological Chemistry, 1999
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999
Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.
Korenke GC et al.
European Journal of Endocrinology, 1997
Altered expression of ALDP in X-linked adrenoleukodystrophy.
Watkins PA et al.
American Journal of Human Genetics, 1995
Mutational analysis of patients with X-linked adrenoleukodystrophy.
Kok F et al.
Human Mutation, 1995