Associated Papers
Clinical, biochemical & molecular spectrum of adrenoleukodystrophy: A single centre experience.
Kumar S et al.
The Indian Journal of Medical Research, 2025
Clinical Variation and Neuroimaging Patterns in Monozygotic Twins With Arrested X-Linked Adrenoleukodystrophy: A Case Report.
Leon TA et al.
Cureus, 2025
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.
Al-Hamed MH et al.
Molecular Genetics & Genomic Medicine, 2025
From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy.
Zuo X et al.
Lipids in Health and Disease, 2024
Childhood Cerebral Adrenoleukodystrophy: Case Report and Literature Review Advocating for Newborn Screening.
Rajakumar HK et al.
Degenerative Neurological and Neuromuscular Disease, 2024
Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders.
Dong L et al.
Italian Journal of Pediatrics, 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
In vivo gene editing via homology-independent targeted integration for adrenoleukodystrophy treatment.
Hong SA et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2022
Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.
Liu S et al.
Molecular Genetics & Genomic Medicine, 2022
Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4.
Kawaguchi K et al.
Chemical & Pharmaceutical Bulletin, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Predictive Structure and Topology of Peroxisomal ATP-Binding Cassette (ABC) Transporters.
Andreoletti P et al.
International Journal of Molecular Sciences, 2017
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
Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.
Habekost CT et al.
Orphanet Journal of Rare Diseases, 2014
Retinal Ganglion Cell Loss in X-linked Adrenoleukodystrophy with an ABCD1 Mutation (Gly266Arg).
Ohkuma Y et al.
Neuro-ophthalmology (aeolus Press), 2014
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
Pereira Fdos S et al.
Plos One, 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
[Mutational analysis of three Chinese pedigrees with adrenoleukodystrophy].
Huang LH et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
[X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].
Pan H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004