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Article

Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.

Human molecular genetics - 1 Jan 2018

Straub Isabella R, Janer Alexandre, Weraarpachai Woranontee, Zinman Lorne, Robertson Janice, Rogaeva Ekaterina, Shoubridge Eric A

Abstract excerpt

Coiled-helix coiled-helix domain containing protein 10 (CHCHD10) and its paralogue CHCHD2 belong to a family of twin CX9C motif proteins, most of which localize to the intermembrane space of mitochondria. Dominant mutations in CHCHD10 cause amyotrophic lateral sclerosis (ALS)/frontotemporal dementia, and mutations in CHCHD2 have been associated with Parkinson's disease, but the function of these proteins remains...

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Source

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Identifiers

PMID: 29121267
DOI: 10.1093/hmg/ddx393
PMCID: PMC5886208

Genes

CHCHD10
CHCHD2

Provenance

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 CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.PMID 29121267Read ↗

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The CHCHD2-CHCHD10 protein complex is modulated by mitochondrial dysfunction and alters lipid homeostasis in the mouse brainSemantic proximity Read ↗

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