Lanean...

The pathogenic m.8993 T > G mutation in mitochondrial ATP6 gene prevents proton release from the subunit c-ring rotor of ATP synthase

The human ATP synthase is an assembly of 29 subunits of 18 different types, of which only two (a and 8) are encoded in the mitochondrial genome. Subunit a, together with an oligomeric ring of c-subunit (c-ring), forms the proton pathway responsible for the transport of protons through the mitochondr...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mol Genet
Egile Nagusiak: Su, Xin, Dautant, Alain, Rak, Malgorzata, Godard, François, Ezkurdia, Nahia, Bouhier, Marine, Bietenhader, Maïlis, Mueller, David M, Kucharczyk, Roza, di Rago, Jean-Paul, Tribouillard-Tanvier, Déborah
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2021
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8098111/
https://ncbi.nlm.nih.gov/pubmed/33600551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddab043
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!