A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice

A difference in the survival of respiratory chain complex III deficient Bcs1l p.S78G mice was observed between two congenic mouse strains. Here the authors show how in one of the strains the combined effects of a spontaneously arising non-pathogenic variant and the disease-causing Bcs1l p.S78G mutat...

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Autores principales: Janne Purhonen, Vladislav Grigorjev, Robert Ekiert, Noora Aho, Jayasimman Rajendran, Rafał Pietras, Katarina Truvé, Mårten Wikström, Vivek Sharma, Artur Osyczka, Vineta Fellman, Jukka Kallijärvi
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
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Acceso en línea:https://doaj.org/article/3779b9d3fc13415ab6b4e35cb40df347
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Sumario:A difference in the survival of respiratory chain complex III deficient Bcs1l p.S78G mice was observed between two congenic mouse strains. Here the authors show how in one of the strains the combined effects of a spontaneously arising non-pathogenic variant and the disease-causing Bcs1l p.S78G mutation exacerbate CIII deficiency and disease progression.