A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice
oleh: Janne Purhonen, Vladislav Grigorjev, Robert Ekiert, Noora Aho, Jayasimman Rajendran, Rafał Pietras, Katarina Truvé, Mårten Wikström, Vivek Sharma, Artur Osyczka, Vineta Fellman, Jukka Kallijärvi
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2020-01-01 |
Deskripsi
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.