Ontology highlight
ABSTRACT:
SUBMITTER: Ofman R
PROVIDER: S-EPMC3377275 | biostudies-literature | 2010 Mar
REPOSITORIES: biostudies-literature
Ofman Rob R Dijkstra Inge M E IM van Roermund Carlo W T CW Burger Nena N Turkenburg Marjolein M van Cruchten Arno A van Engen Catherine E CE Wanders Ronald J A RJ Kemp Stephan S
EMBO molecular medicine 20100301 3
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding the peroxisomal ABC transporter adrenoleukodystrophy protein (ALDP). X-ALD is characterized by the accumulation of very long-chain fatty acids (VLCFA; > or =C24) in plasma and tissues. In this manuscript we provide insight into the pathway underlying the elevated levels of C26:0 in X-ALD. ALDP transports VLCFacyl-CoA across the peroxisomal membrane. A deficiency in ALDP impairs peroxisomal beta-oxidation of V ...[more]