Article

Recessive pathogenic variants in <i>MCAT</i> cause combined oxidative phosphorylation deficiency

2022-12-09

Abstract excerpt

Malonyl-CoA-acyl carrier protein transacylase (MCAT) is an enzyme involved in mitochondrial fatty acid synthesis (mtFAS) and catalyzes the transfer of the malonyl moiety of malonyl-CoA to the mitochondrial acyl carrier protein (ACP). Previously, we showed that loss-of-function of mtFAS genes, including Mcat , is associated with severe loss of electron transport chain (ETC) complexes in mouse immortalized skeletal...

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Literature Corpus work: 0d681451-ad84-5ad7-979c-6f521ca19c14
DOI: 10.1101/2022.12.06.22283173

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