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Article

Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations.

Human molecular genetics - 3 Jun 2020

Liu Yi-Ting, Huang Xiaoping, Nguyen Diana, Shammas Mario K, Wu Beverly P, Dombi Eszter, Springer Danielle A, Poulton Joanna, Sekine Shiori, Narendra Derek P

Abstract excerpt

Dominant mutations in the mitochondrial paralogs coiled-helix-coiled-helix (CHCHD) domain 2 (C2) and CHCHD10 (C10) were recently identified as causing Parkinson's disease and amyotrophic lateral sclerosis/frontotemporal dementia/myopathy, respectively. The mechanism by which they disrupt mitochondrial cristae, however, has been uncertain. Using the first C2/C10 double knockout (DKO) mice, we report that C10...

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Identifiers

PMID: 32338760
DOI: 10.1093/hmg/ddaa077
PMCID: PMC7268789

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations.PMID 32338760Read ↗

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