Associated Papers
Evaluation of GFM1 mutations pathogenicity through in silico tools, RNA sequencing and mitophagy pahtway in GFM1 knockout cells.
Ahmad B et al.
International Journal of Biological Macromolecules, 2025
Case Report: Incidental diagnosis of cystic fibrosis via whole genome sequencing alters HSCT planning in a child with cerebral X-linked adrenoleukodystrophy.
Sy JAC et al.
Frontiers in Pediatrics, 2025
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.
Luo WJ et al.
Molecular Genetics & Genomic Medicine, 2020
[X-linked adrenoleukodystrophy: a report of three cases. The importance of early diagnosis].
López Úbeda M et al.
Archivos Argentinos De Pediatria, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.
Kemp S et al.
British Journal of Pharmacology, 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
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
Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.
Neumann S et al.
Genetic Testing, 2001
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
Lachtermacher MB et al.
Human Mutation, 2000
X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?
Karapanou O et al.
Hormones (athens, Greece), 0