Mediators of Inflammation, 2015 X-linked adrenoleukodystrophy (X-ALD) is caused by mutations and/or deletions in the ABCD1 gene. Similar mutations/deletions can give rise to variable phenotypes ranging from mild adrenomyeloneuropathy (AMN) to inflammatory fatal cerebral ...
Jaspreet Singh +2 more
doaj +4 more sources
Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy. [PDF]
Int J Mol Sci, 2023 X-linked adrenoleukodystrophy (X-ALD) is a rare inborn error of the peroxisomal metabolism caused by pathologic variants in the ATP-binding cassette transporter type D, member 1 (ABCD1) gene located on the X-chromosome.
Dohr KA +6 more
europepmc +2 more sources
Gene Therapy of Adrenomyeloneuropathy: Challenges, Target Cells, and Prospectives [PDF]
BiomedicinesGene replacement using adeno-associated viral (AAV) vectors has become a major therapeutic avenue for neurodegenerative diseases (NDD). In single-gene diseases with loss-of-function mutations, the objective of gene therapy is to express therapeutic ...
Pierre Bougnères +2 more
doaj +2 more sources
Egyptian Journal of Medical Human GeneticsBackground 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
doaj +2 more sources
X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients [PDF]
PLoS ONE, 2012 La adrenoleucodistrofia ligada al cromosoma X (X-ALD) es una enfermedad metabólica hereditaria asociada con mutaciones en el gen ABCD1 que codifica una proteína transportadora de casete de unión a ATP, ALDP. La enfermedad se caracteriza por un aumento de las concentraciones de ácidos grasos de cadena muy larga (VLCFA) en el plasma y en los tejidos ...
Cyntia Anabel Amorosi +8 more
openaire +7 more sources
Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations [PDF]
Stem Cell Research, 2021 Adrenoleukodystrophy (ALD) is an X-linked genetic disorder, characterized by demyelination in the central nervous system and adrenal insufficiency. Human induced pluripotent stem cell (hiPSC) lines derived from two Japanese male patients with ALD were ...
Yuji Kuramochi +15 more
doaj +2 more sources
PLoS ONE, 2011 X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and adrenal cortex secondary to mutations in the ABCD1 gene that encode the peroxisomal membrane protein.
Neeraj Kumar +5 more
doaj +2 more sources
Silencing of Abcd1 and Abcd2 genes sensitizes astrocytes for inflammation: implication for X-adrenoleukodystrophy* [PDF]
Journal of Lipid Research, 2009 X-linked adrenoleukodystrophy is a metabolic disorder arising from a mutation/deletion in the ABCD1 gene, leading to a defect in the peroxisomal adrenoleukodystrophy protein (ALDP), which inhibits the oxidation of very long chain fatty acids (VLCFAs ...
Jaspreet Singh +2 more
doaj +3 more sources
Progressive Cognitive and Behavioral Changes With Leukodystrophy due to ABCD1 Gene Mutation. [PDF]
Dement Neurocogn Disord, 2022 Park J +5 more
europepmc +3 more sources
Novel ABCD1 mutation detected in a symptomatic female carrier of adrenoleukodystrophy [PDF]
, 2022 X-linked adrenoleukodystrophy (ALD) is a major peroxisomal disorder, in which abnormal accumulation of very long-chain fatty acids (VLCFA) caused by ABCD1 gene mutation results in damage to the peripheral and central nervous system and adrenal gland ...
Fukui, Yusuke +10 more
core +2 more sources