Article

A CHCHD10 variant causing ALS elicits an unfolded protein response through the IRE1/XBP1 pathway

2020-05-05

Abstract excerpt

Mutations in CHCHD10 , coding for a mitochondrial intermembrane space protein, are a rare cause of autosomal dominant amyotrophic lateral sclerosis (ALS). Mutation-specific toxic gain of function or haploinsuffuciency models have been proposed to explain pathogenicity. To decipher the metabolic dysfunction associated with the haploinsufficient p.R15L variant we integrated transcriptomic, metabolomic and proteomic...

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Literature Corpus work: e3517bf6-fe61-50ab-9e21-a3bbf1c98ff1
DOI: 10.1101/2020.05.05.078881

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