Article
OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy.
The Journal of clinical investigation - 15 Jul 2022
Shammas Mario K, Huang Xiaoping, Wu Beverly P, Fessler Evelyn, Song Insung Y, Randolph Nicholas P, Li Yan, Bleck Christopher Ke, Springer Danielle A, Fratter Carl, Barbosa Ines A, Powers Andrew F, Quirós Pedro M, Lopez-Otin Carlos, Jae Lucas T, Poulton Joanna, Narendra Derek P
Abstract excerpt
Mitochondrial stress triggers a response in the cell's mitochondria and nucleus, but how these stress responses are coordinated in vivo is poorly understood. Here, we characterize a family with myopathy caused by a dominant p.G58R mutation in the mitochondrial protein CHCHD10. To understand the disease etiology, we developed a knockin (KI) mouse model and found that mutant CHCHD10 aggregated in affected tissues,...
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