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...
Guardat en:
| Autors principals: | , , , , , , , , , , , , |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
eLife Sciences Publications Ltd
2023-03-01
|
| Col·lecció: | eLife |
| Matèries: | |
| Accés en línia: | https://elifesciences.org/articles/68047 |
| Etiquetes: |
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|