Ontology highlight
ABSTRACT:
SUBMITTER: Karkar A
PROVIDER: S-EPMC4660798 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Karkar Adnane A Barakat Abdelhamid A Bakhchane Amina A Fettah Houda H Slassi Ilham I Dorboz Imen I Boespflug-Tanguy Odile O Nadifi Sellama S
BMC neurology 20151125
<h4>Background</h4>X-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for the adrenoleukodystrophy protein (ALDP), which is an ATP-binding transport protein associated to an active transport of very long chain fatty acids (VLCFAs). Dysfunction of ALDP induces an accumulation of VLCFAs in all tissues leading to a neurodegenerative disorder tha ...[more]