Associated Papers
A mouse model of CHCHD10 p.R15L familial ALS presents mild, age-related motor neuron degeneration without protein instability or mitochondrial dysfunction.
Park J et al.
Biorxiv : the Preprint Server for Biology, 2025
Mutant CHCHD10 disrupts cytochrome c oxidation and activates mitochondrial retrograde signaling.
Campos-Ribeiro MA et al.
Embo Molecular Medicine, 2025
CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.
Shammas MK et al.
Human Molecular Genetics, 2023
OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy.
Shammas MK et al.
The Journal of Clinical Investigation, 2022
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