Associated Papers
Diagnosis, treatment and genetic analysis of a case of skin hyperpigmentation as the only manifestation with X-linked adrenoleukodystrophy.
Yu JY et al.
Yi Chuan = Hereditas, 2022
Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Chen ZP et al.
Nature Communications, 2022
35676282 (PubMed )
Supplement: 41467_2022_30974_MOESM1_ESM.pdf
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
Trans-Ancestry Mutation Landscape of Hepatoblastoma Genomes in Children.
Liu J et al.
Frontiers in Oncology, 2021
33968779 (PubMed )
Supplement: Table_2.xls › CHINA_PMID24912477_
A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene.
Horikawa Y et al.
Neuro Endocrinology Letters, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Diffuse cortical hypometabolism on (18)F-FDG-PET scan in a case of an adult variant cerebello-brainstem dominant form of ALD manifesting dementia.
Kim JE et al.
Parkinsonism & Related Disorders, 2012
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
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
Mutational analysis of X-linked adrenoleukodystrophy gene.
Takano H et al.
Cell Biochemistry and Biophysics, 2000
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999
Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.
Holzinger A et al.
Clinical Genetics, 1998
Identification of two new nonsense mutations (Q311X and W326X) in Exon 2 of the adrenoleukodystrophy (ALD) gene.
Barceló A et al.
Human Mutation, 1996
De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene.
Barceló A et al.
Human Genetics, 1995
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