ELOVL1, ELOVL fatty acid elongase 1, 64834

N. diseases: 18; N. variants: 1
Disease: Adrenoleukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.030 Biomarker disease BEFREE In this study, we investigated the kinetic characteristics of ELOVL1 using X-ALD fibroblasts and microsomal fractions from ELOVL1 over-expressing HEK293 cell lines and analyzed the inhibition kinetics of a series of fibrates. 25499606 2015
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.030 AlteredExpression disease BEFREE Given the likely pathogenic effects of high C26:0 levels, our findings highlight the potential of modulating ELOVL1 activity in the treatment of X-ALD. 20166112 2010
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.030 Biomarker disease BEFREE Furthermore, we pay special attention to the role of the VLCFA elongation system in VLCFA homeostasis, with elongation of very long-chain fatty acids like-1 (ELOVL1) as key player, and its relevance to X-ALD. 20626744 2010