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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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mol Genet
Egile Nagusiak: Straub, Isabella R, Janer, Alexandre, Weraarpachai, Woranontee, Zinman, Lorne, Robertson, Janice, Rogaeva, Ekaterina, Shoubridge, Eric A
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2018
Gaiak:
Sarrera elektronikoa: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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