Proteomics

Dataset Information

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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): Orbitrap Fusion

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Fibroblast

SUBMITTER: Isabella Straub  

LAB HEAD: Eric Shoubridge

PROVIDER: PXD018806 | Pride | 2022-04-04

REPOSITORIES: Pride

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Dataset's files

Source:
Action DRS
Isabella_20190123_UniProt_Human_TMT10plex_Pat_OE_F030600.dat Other
Isabella_20190123_UniProt_Human_TMT10plex_with_MS3_Pat_OE_F030601.dat Other
Isabella_20190123_UniProt_Human_TMT10plex_with_MS3_Pat_OE_F030602.dat Other
OF_20190123_SHO_01.raw Raw
OF_20190123_SHO_01_2.raw Raw
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Publications

Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.

Straub Isabella R IR   Weraarpachai Woranontee W   Shoubridge Eric A EA  

Human molecular genetics 20210501 8

Mutations in CHCHD10, coding for a mitochondrial intermembrane space protein, are a rare cause of autosomal dominant amyotrophic lateral sclerosis. Mutation-specific toxic gain of function or haploinsufficiency 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 data sets in patient cells subjected to an energetic stress that forces the cells to rely  ...[more]

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