Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency

Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency

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, includ...

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Bibliographic Details
Main Authors: Bryn D Webb, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBerardinis, Jared Rutter, Sander M Houten
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2023-03-01
Series:eLife
Subjects:
mitochondria
MCAT
mitochondrial disease
Online Access:https://elifesciences.org/articles/68047

Internet

https://elifesciences.org/articles/68047

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