Catarina A Madeira, Carolina Anselmo, João M Costa, Cátia A Bonito, Ricardo J Ferreira, Daniel J V A Santos, Ronald Wanders, João B Vicente, Fátima V Ventura, Paula Leandro
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is associated with ACADM gene mutations, leading to an impaired function and/or structure of MCAD. Importantly, after import into the mitochondria, MCAD must incorporate a molecule of flavin adenine dinucleotide (FAD) per subunit and assemble into tetramers. However, the effect of MCAD amino acid substitutions on FAD incorporation has not been investigated. Herein, the commonest MCAD variant (p.K304E) and 11 additional rare variants (p.Y48C, p.R55G, p...
May 29, 2023: Biochimica et Biophysica Acta. Molecular Basis of Disease