Associated Papers
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study.
Fathi M et al.
Molecular Genetics and Metabolism Reports, 2025
Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort.
Zhang Y et al.
Neuropsychiatric Disease and Treatment, 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
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
Wu C et al.
Brain : a Journal of Neurology, 2023
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
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.
Zhang T et al.
Neuropsychiatric Disease and Treatment, 2021
Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families.
Jiao B et al.
Parkinsonism & Related Disorders, 2020
Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy.
Emamalizadeh B et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Early Onset Primary Adrenal Insufficiency in Males with Adrenoleukodystrophy: Case Series and Literature Review.
Eng L et al.
The Journal of Pediatrics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy.
Morita M et al.
Jimd Reports, 2019
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
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Engelen M et al.
Brain : a Journal of Neurology, 2014
Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.
Hung KL et al.
Pediatric Neurology, 2013
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
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
Shimozawa N et al.
Journal of Human Genetics, 2011
Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.
Kelly L et al.
Protein Science : a Publication of the Protein Society, 2010
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
X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.
Coll MJ et al.
Clinical Genetics, 2005
Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy.
Matsumoto T et al.
Journal of Human Genetics, 2003
Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.
Guimarães CP et al.
Molecular Genetics and Metabolism, 2002
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
Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.
Kemp S et al.
Nature Medicine, 1998
Protease inhibitors suppress the degradation of mutant adrenoleukodystrophy proteins but do not correct impairment of very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.
Yamada T et al.
Neurochemical Research, 1997
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
Feigenbaum V et al.
American Journal of Human Genetics, 1996
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
Florid Brain Calcification in a Child with X-Linked Adrenoleukodystrophy: What Does it Signify?
Bhanudeep S et al.
Annals of Indian Academy of Neurology, 0