Unveiling the Pathogenic Molecular Mechanisms of the Most Common Variant (p.K329E) in Medium-Chain Acyl-CoA Dehydrogenase Deficiency by in Vitro and in Silico Approaches

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common genetic disorder affecting the mitochondrial fatty acid β-oxidation pathway. The mature and functional form of human MCAD (hMCAD) is a homotetramer assembled as a dimer of dimers (monomers A/B and C/D). Each monomer binds a FA...

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Veröffentlicht in:	Biochemistry (Easton) 2016-12, Vol.55 (51), p.7086-7098
Hauptverfasser:	Bonito, Cátia A, Nunes, Joana, Leandro, João, Louro, Filipa, Leandro, Paula, Ventura, Fátima V, Guedes, Rita C
Format:	Artikel
Sprache:	eng
Schlagworte:	Acyl-CoA Dehydrogenase - chemistry Acyl-CoA Dehydrogenase - deficiency Acyl-CoA Dehydrogenase - genetics Biocatalysis Computer Simulation Enzyme Stability Glutamic Acid - genetics Humans Kinetics Lipid Metabolism, Inborn Errors - enzymology Lipid Metabolism, Inborn Errors - genetics Lysine - genetics Models, Molecular Motion Mutation, Missense Principal Component Analysis Protein Binding Protein Domains Protein Multimerization Temperature
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