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Biochemical investigation of a human pathogenic mutation in the nuclear ATP5E gene using yeast as a model

F(1)F(0)-ATP synthase is a key enzyme of the mitochondrial energetic metabolism responsible for the production of most cellular ATP in humans. Mayr et al. (2010) recently described a patient with a homozygote (Y12C) mutation in the nuclear gene ATP5E encoding the ε-subunit of ATP synthase. To better...

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Detalles Bibliográficos
Autores principales:	Sardin, Elodie, Donadello, Stéphanie, di Rago, Jean-Paul, Tetaud, Emmanuel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2015
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407571/ https://www.ncbi.nlm.nih.gov/pubmed/25954304 http://dx.doi.org/10.3389/fgene.2015.00159

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