Associated Papers
Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in Denmark.
Videbæk CS et al.
Molecular Genetics and Metabolism, 2025
Clinical and radiological characteristics of adult-onset X-linked adrenoleukodystrophy: a Chinese cohort study and review of the literature.
Xiao H et al.
Bmc Neurology, 2025
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.
Al-Hamed MH et al.
Molecular Genetics & Genomic Medicine, 2025
Innovative tree-based method for sampling molecular conformations: exploring the ATP-binding cassette subfamily D member 1 (ABCD1) transporter as a case study.
Haschka T et al.
Frontiers in Molecular Biosciences, 2024
Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Chen ZP et al.
Nature Communications, 2022
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Matteson J et al.
International Journal of Neonatal Screening, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy.
Matsukawa T et al.
Brain Communications, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry.
Takashima S et al.
Molecular Genetics and Metabolism, 2017
Generation of human embryonic stem cells from abnormal blastocyst diagnosed with adrenoleukodystrophy.
Ouyang Q et al.
Stem Cell Research, 2016
ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.
Kawaguchi K et al.
Biomed Research International, 2016
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
Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.
Kumar N et al.
Plos One, 2011
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy.
Cartier N et al.
Science (new York, N.y.), 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Kemp S et al.
Human Mutation, 2001
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999