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...
Gorde:
| Egile Nagusiak: | , , , , , , , , , , , , |
|---|---|
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
eLife Sciences Publications Ltd
2023-03-01
|
| Saila: | eLife |
| Gaiak: | |
| Sarrera elektronikoa: | https://elifesciences.org/articles/68047 |
| Etiketak: |
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|