Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation
Mutations in the genes encoding the α-subunit and β-subunit of the mitochondrial electron
transfer flavoprotein (ETF) and the electron transfer flavoprotein: ubiquinone oxidoreductase
(ETF: QO) cause multiple acyl-CoA dehydrogenation deficiency (MADD), a disorder of fatty
acid and amino acid metabolism. Point mutations in ETF, which may compromise folding,
and/or activity, are associated with both mild and severe forms of MADD. Here we report the
investigation on the conformational and stability properties of the disease-causing variant …
transfer flavoprotein (ETF) and the electron transfer flavoprotein: ubiquinone oxidoreductase
(ETF: QO) cause multiple acyl-CoA dehydrogenation deficiency (MADD), a disorder of fatty
acid and amino acid metabolism. Point mutations in ETF, which may compromise folding,
and/or activity, are associated with both mild and severe forms of MADD. Here we report the
investigation on the conformational and stability properties of the disease-causing variant …
以上显示的是最相近的搜索结果。 查看全部搜索结果