Associated Papers
Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort.
Zhang Y et al.
Neuropsychiatric Disease and Treatment, 2025
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
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
iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations.
Lotz-Havla AS et al.
Journal of Proteome Research, 2021
A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review.
Zhang Y et al.
Genes & Diseases, 2021
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Matteson J et al.
International Journal of Neonatal Screening, 2021
Bilateral testicular masses and adrenal insufficiency: is congenital adrenal hyperplasia the only possible diagnosis? First two cases of TARTS described in Addison-only X-linked adrenoleukodystrophy and a brief review of literature.
Tresoldi AS et al.
Journal of Endocrinological Investigation, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
A 29-year-old patient with adrenoleukodystrophy presenting with Addison's disease.
Tanaka H et al.
Endocrine Journal, 2020
Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy.
Li J et al.
Bmc Neurology, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane.
Hillebrand M et al.
The Journal of Biological Chemistry, 2012
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
Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy.
Matsumoto T et al.
Journal of Human Genetics, 2003
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
Lachtermacher MB et al.
Human Mutation, 2000
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999