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

Coiled-helix coiled-helix domain containing protein 10 (CHCHD10) and its paralogue CHCHD2 belong to a family of twin CX(9)C motif proteins, most of which localize to the intermembrane space of mitochondria. Dominant mutations in CHCHD10 cause amyotrophic lateral sclerosis (ALS)/frontotemporal dement...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Straub, Isabella R, Janer, Alexandre, Weraarpachai, Woranontee, Zinman, Lorne, Robertson, Janice, Rogaeva, Ekaterina, Shoubridge, Eric A
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886208/
https://ncbi.nlm.nih.gov/pubmed/29121267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx393
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