Associated Papers
Adult onset cerebral adrenoleukodystrophy: report of an atypical case.
Coucke A et al.
Acta Neurologica Belgica, 2025
Clinical, biochemical & molecular spectrum of adrenoleukodystrophy: A single centre experience.
Kumar S et al.
The Indian Journal of Medical Research, 2025
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.
Al-Hamed MH et al.
Molecular Genetics & Genomic Medicine, 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review.
Zhang Y et al.
Genes & Diseases, 2021
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
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
Early Onset Primary Adrenal Insufficiency in Males with Adrenoleukodystrophy: Case Series and Literature Review.
Eng L et al.
The Journal of Pediatrics, 2019
Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.
Horn MA et al.
Clinical Case Reports, 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
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
Salsano E et al.
Orphanet Journal of Rare Diseases, 2012
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
Shimozawa N et al.
Journal of Human Genetics, 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
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.
Neumann S et al.
Genetic Testing, 2001
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.
Lira MG et al.
Human Mutation, 2000
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
Lachtermacher MB et al.
Human Mutation, 2000
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
Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.
Krasemann EW et al.
Human Genetics, 1996
Altered expression of ALDP in X-linked adrenoleukodystrophy.
Watkins PA et al.
American Journal of Human Genetics, 1995
X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.
Wichers M et al.
Human Genetics, 0
X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms.
İncecik F et al.
The Turkish Journal of Pediatrics, 0