Molecular Basis of the Pathogenic Mechanism Induced by the m.9191T>C Mutation in Mitochondrial <i>ATP6</i> Gene

Molecular Basis of the Pathogenic Mechanism Induced by the m.9191T>C Mutation in Mitochondrial <i>ATP6</i> Gene

Probing the pathogenicity and functional consequences of mitochondrial DNA (mtDNA) mutations from patient’s cells and tissues is difficult due to genetic heteroplasmy (co-existence of wild type and mutated mtDNA in cells), occurrence of numerous mtDNA polymorphisms, and absence of methods for geneti...

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Bibliographic Details
Main Authors: Xin Su, Alain Dautant, François Godard, Marine Bouhier, Teresa Zoladek, Roza Kucharczyk, Jean-Paul di Rago, Déborah Tribouillard-Tanvier
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:International Journal of Molecular Sciences
Subjects:
mitochondrial disease
<i>ATP6</i> gene
ATP synthase
genetic suppressors
yeast
mitochondrial DNA mutation
Online Access:https://www.mdpi.com/1422-0067/21/14/5083

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https://www.mdpi.com/1422-0067/21/14/5083

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