{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["35(6)"],"submitter":["Engelen M"],"pubmed_abstract":["X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding ALDP, an ATP-binding-cassette (ABC) transporter located in the peroxisomal membrane. ALDP deficiency results in impaired peroxisomal β-oxidation and the subsequent accumulation of very long-chain fatty acids (VLCFA; > C22:0) in plasma and tissues. VLCFA are primarily derived from endogenous synthesis by ELOVL1. Therefore inhibiting this enzyme might constitute a feasible therapeutic approach. In this paper we demonstrate that bezafibrate, a PPAR pan agonist used for the treatment of patients with hyperlipidaemia reduces VLCFA levels in X-ALD fibroblasts. Surprisingly, the VLCFA-lowering effect was independent of PPAR activation and not caused by the increase in either mitochondrial or peroxisomal fatty "],"journal":["Journal of inherited metabolic disease"],"pagination":["1137-45"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3470694"],"repository":["biostudies-literature"],"pubmed_title":["Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation."],"pmcid":["PMC3470694"],"pubmed_authors":["Pujol A","Engelen M","Sanders RJ","Schackmann MJ","Houten SM","Dijkstra IM","Poll-The BT","Wanders RJ","Ofman R","Kemp S","Fourcade S"],"additional_accession":[]},"is_claimable":false,"name":"Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.","description":"X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding ALDP, an ATP-binding-cassette (ABC) transporter located in the peroxisomal membrane. ALDP deficiency results in impaired peroxisomal β-oxidation and the subsequent accumulation of very long-chain fatty acids (VLCFA; > C22:0) in plasma and tissues. VLCFA are primarily derived from endogenous synthesis by ELOVL1. Therefore inhibiting this enzyme might constitute a feasible therapeutic approach. In this paper we demonstrate that bezafibrate, a PPAR pan agonist used for the treatment of patients with hyperlipidaemia reduces VLCFA levels in X-ALD fibroblasts. Surprisingly, the VLCFA-lowering effect was independent of PPAR activation and not caused by the increase in either mitochondrial or peroxisomal fatty ","dates":{"release":"2012-01-01T00:00:00Z","publication":"2012 Nov","modification":"2026-05-04T07:08:06.614Z","creation":"2025-07-12T03:06:35.41Z"},"accession":"S-EPMC3470694","cross_references":{"pubmed":["22447153"],"doi":["10.1007/s10545-012-9471-4"]}}