PXD018806

PXD018806 is an original dataset announced via ProteomeXchange.

Title	Tandem Mass Tag proteomics in CHCHD10 patient cells
Description	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.
HostingRepository	PRIDE
AnnounceDate	2022-04-04
AnnouncementXML	Submission_2022-04-03_17:58:02.333.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD018806
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	Isabella Straub
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	TMT6plex-126 reporter+balance reagent acylated residue
Instrument	Orbitrap Fusion

Revision	Datetime	Status	ChangeLog Entry
0	2020-04-26 14:42:06	ID requested
⏵ 1	2022-04-03 17:58:03	announced

Straub IR, Weraarpachai W, Shoubridge EA, Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses. Hum Mol Genet, 30(8):687-705(2021) [pubmed]

submitter keyword: Human, Fibroblasts, mitochondria, galactose

Eric Shoubridge
contact affiliation	Human Genetics McGill University Faculty of Medicine
contact email	eric.shoubridge@mcgill.ca
lab head
Isabella Straub
contact affiliation	McGill University
contact email	isabella.straub@mail.mcgill.ca
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD018806
     1. Label: PRIDE project
     2. Name: Tandem Mass Tag proteomics in CHCHD10 patient cells