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...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
Assuntos:
General Article
Acesso em linha: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
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