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

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 (het...

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Detalles Bibliográficos
Autores principales: Baranowska, Emilia, Niedzwiecka, Katarzyna, Panja, Chiranjit, Charles, Camille, Dautant, Alain, Poznanski, Jarosław, di Rago, Jean-Paul, Tribouillard-Tanvier, Déborah, Kucharczyk, Roza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151828/
https://www.ncbi.nlm.nih.gov/pubmed/37083953
http://dx.doi.org/10.1242/dmm.049783