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Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast.

Disease models & mechanisms - 1 Apr 2023

Baranowska Emilia, Niedzwiecka Katarzyna, Panja Chiranjit, Charles Camille, Dautant Alain, Poznanski Jarosław, di Rago Jean-Paul, Tribouillard-Tanvier Déborah, Kucharczyk Roza

Abstract excerpt

The list of mitochondrial DNA (mtDNA) variants detected in individuals with neurodegenerative diseases is constantly growing. Evaluating their functional consequences and pathogenicity is not easy, especially when they are found in only a limited number of patients together with wild-type mtDNA (heteroplasmy). Owing to its amenability to mitochondrial genetic transformation and incapacity to stably maintain...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37083953
DOI: 10.1242/dmm.049783
PMCID: PMC10151828

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