Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila

Article ID	Journal	Published Year	Pages	File Type
8261543	Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease	2012	9 Pages	PDF

Abstract

âº Fly mutants defective for embryonic cuticle allelic to ETF:QO were identified. âº Three missense mutations identified in ETF:QO (G65E, A68V and S104F). âº Raised acylcarnitine levels in fly embryos as in severe MADD. âº Mutations map at FAD motif within Rossmann fold inactivating enzyme. âº Severe MADD-like phenotype in the fruit fly sets proof of concept of suitability as disease model.

Keywords

MADD Short chain acyl-CoA dehydrogenase MCAD ETF COA EMS flavin adenine dinucleotide Fatty acid β-oxidation Acylcarnitines ethyl methanesulfonate FAD Rossmann fold Medium chain acyl-CoA dehydrogenase FAO Flavoprotein electron transfer flavoprotein Drosophila Scad Multiple acyl-CoA dehydrogenase deficiency coenzyme A

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Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila

Authors

Ema Alves, Bárbara J. Henriques, JoÃ£o V. Rodrigues, Pedro PrudÃªncio, Hugo Rocha, Laura Vilarinho, Rui G. Martinho, Cláudio M. Gomes,