Tandem Mass Tag proteomics in CHCHD10 patient cells

ABSTRACT: 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 conducted a TMT labelling experiment. Fibroblasts with the CHCHD10 p.R15L variant (hereafter referred to as ‘patient’), were compared to the same cells expressing wild-type CHCHD10 cDNA (hereafter called ‘rescue’) under nutrient stress, in which galactose was substituted for glucose.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Fibroblast

SUBMITTER: Isabella Straub  

LAB HEAD: Eric Shoubridge

PROVIDER: PXD018806 | Pride | 2022-04-04

REPOSITORIES: Pride