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T1  - A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice 
SN  -  /  
UR  - http://hdl.handle.net/10138/313076 
T3  -  
A1  - Purhonen, Janne; Grigorjev, Vladislav; Ekiert, Robert; Aho, Noora; Rajendran, Jayasimman; Pietras, Rafal; Truve, Katarina; Wikström, Mårten; Sharma, Vivek; Osyczka, Artur; Fellman, Vineta; Kallijärvi, Jukka 
A2  -  
PB  -  
Y1  - 2020 
LA  - eng 
AB  - We previously observed an unexpected fivefold (35 vs. 200 days) difference in the survival of respiratory chain complex III (CIII) deficient Bcs1/(p.S78G) mice between two congenic backgrounds. Here, we identify a spontaneous homoplasmic mtDNA variant (m.G14904A, mt-Cyb(p.D254N)), affecting the CIII subunit cytochrome b (MT-CYB), in the background with short survival. We utilize maternal inheritance of mtDNA to confirm this as the causative variant and show that it further decreases the low CIII... 
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OP  -  
KW  - IRON-SULFUR PROTEIN; CYTOCHROME BC(1) COMPLEX; GUI MEMBRANE-BUILDER; RESPIRATORY-CHAIN; CRYSTAL-STRUCTURE; GRACILE SYNDROME; MUTATIONS; GENERATION; DYNAMICS; DISEASE; 1182 Biochemistry, cell and molecular biology 
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ER  -