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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Detalles Bibliográficos
Autores principales: Webb, Bryn D, Nowinski, Sara M, Solmonson, Ashley, Ganesh, Jaya, Rodenburg, Richard J, Leandro, Joao, Evans, Anthony, Vu, Hieu S, Naidich, Thomas P, Gelb, Bruce D, DeBerardinis, Ralph J, Rutter, Jared, Houten, Sander M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2023
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9991045/
https://www.ncbi.nlm.nih.gov/pubmed/36881526
http://dx.doi.org/10.7554/eLife.68047

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9991045/
https://www.ncbi.nlm.nih.gov/pubmed/36881526
http://dx.doi.org/10.7554/eLife.68047

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