Results 21 to 30 of about 7,333,851 (157)

ABCD1 Gene Mutations in Chinese Patients with ALD

Pediatric Neurology Briefs, 2005
Thirty-two different ABCD1 mutations were identified by direct sequencing of polymerase chain reaction products in 34 unrelated Chinese X-linked adrenoleukodystrophy (ALD) patients examined at Peking University First Hospital, Beijing ...
J Gordon Millichap, J Gordon Millichap
core   +5 more sources

S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy. [PDF]

Oncotarget, 2017
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It is a heterogeneous disorder caused by mutations in the ATP-binding cassette protein subfamily D1 (ABCD1) gene, encoding the peroxisomal membrane protein ALDP, which is ...
Yan F, Wang W, Ying H, Li H, Chen J, Xu C.   +5 more
europepmc   +5 more sources

A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein. [PDF]

JIMD Reports, 2013
We diagnosed an adrenomyeloneuropathy (AMN) patient with a double novel missense mutation, c.284C>A (p.A95D) and c.290A>T (p.H97L) in a single ABCD1 allele. In skin fibroblasts from the patient, no ABCD1 protein was detected by immunoblot analysis, and the C24:0 β-oxidation activity was decreased to a level at which the ABCD1 protein was absent.
M. Morita, J. Kobayashi, K. Yamazaki, Kosuke Kawaguchi, Ayako Honda, K. Sugai, N. Shimozawa, R. Koide, T. Imanaka   +8 more
semanticscholar   +3 more sources

In silico analysis of non-synonymous single nucleotide polymorphisms of human ABCD1 gene associated with adrenoleukodystrophy

Egyptian Journal of Medical Human Genetics
Background The ABCD1 gene is a part of the ABC transporter family that encodes proteins involved in lipid and metabolite transport. Numerous non-synonymous single nucleotide polymorphisms (nsSNPs) have been identified within the coding region of the ...
R. Reshmi, Devinder Kaur
core   +2 more sources

Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation

Journal of the Neurological Sciences, 2014
X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, and clinical presentation as adult-onset spinocerebellar ataxia has been rarely reported. Here, we report a Taiwanese family with X-ALD.
Li, J.Y., Hsu, C.C., Tsai, C.R.
core   +3 more sources

X-linked Adrenoleukodystrophy in a 20-Year-Old Male With an ABCD1 Gene Mutation: First Case From Pakistan. [PDF]

Cureus, 2022
X-linked adrenoleukodystrophy (X-ALD) is a rare neurodegenerative disease characterized by genetic mutation of the ABCD1 gene. This gene encodes for transmembrane adrenoleukodystrophy protein (ALDP).
Ghori M, Molani RA, Ibrahim PMN, Hanif MI, Jamal Raza J.   +4 more
europepmc   +2 more sources

Incidental diagnosis of primary adrenal insufficiency precipitated by positive ABCD1 gene mutation detected on cascade screening

BMJ Case Reports
This case presentation outlines the occurrence of primary adrenal insufficiency secondary to ATP binding cassette subfamily D member 1 (ABCD1) mutation in a man in his 40s following a genetic screening test performed after a diagnosis of X-linked ...
George, Antony Mosses, Chacko James, Jovito, Mukunda, Athira, Jacob, Rhea   +3 more
core   +2 more sources

ABCD1 Gene [PDF]

Definitions, 2020

semanticscholar   +2 more sources

ABCD1 Gene Mutation [PDF]

Definitions, 2020

semanticscholar   +2 more sources

Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene. [PDF]

Appl Clin Genet, 2021
Background Adrenoleukodystrophy (ALD) is a rare sex-linked recessive disorder that disrupts adrenal gland function and the white matter of the nervous system.
Trinh The S, Trieu Tien S, Vu Van T, Nguyen Ngoc N, Tran Ngoc Thao M, Tran Van K, Vu Nhat D, Do Nhu B.   +7 more
europepmc   +2 more sources