PXD060278-1

PXD060278 is an original dataset announced via ProteomeXchange.

Title	An updated inventory of genes essential for oxidative phosphorylation identifies a mitochondrial origin in familial Ménière’s disease - Quantitative mouse tissue proteomics
Description	Mitochondrial disorders (MDs) are among the most common inborn errors of metabolism and primarily arise from defects in oxidative phosphorylation (OXPHOS). Their complex mode of inheritance and diverse clinical presentations render the diagnosis of MDs challenging and, to date, most lack a cure. Here, we build on previous efforts to discover genes necessary for OXPHOS and report a highly complementary galactose-sensitized CRISPR-Cas9 “growth” screen, presenting an updated inventory now with 481 OXPHOS genes, including 157 linked to MDs. We further focus on FAM136A, a gene associated with Ménière’s disease and show that it supports inter-membrane space protein homeostasis and OXPHOS in cell lines, mice, and patients. Our study identifies a mitochondrial basis in a familial form of Ménière’s disease (fMD), provides a comprehensive resource of OXPHOS-related genes, and sheds light on the pathways involved in mitochondrial disorders, with the potential to guide future diagnostics and treatments for MDs.
HostingRepository	PRIDE
AnnounceDate	2025-07-30
AnnouncementXML	Submission_2025-07-30_02:42:31.731.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Alexis Jourdain
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	timsTOF Pro

Revision	Datetime	Status	ChangeLog Entry
0	2025-01-28 05:33:03	ID requested
⏵ 1	2025-07-30 02:42:32	announced

10.1016/j.celrep.2025.116069;

Harhai M, Foged MM, Zarges C, Landoni JC, Chollet S, Simonelli M, Recazens E, Lisci M, Laban N, Manley S, Riemer J, Lopez-Escamez JA, Lysakowski A, Jourdain AA, re's disease. Cell Rep, 44(8):116069(2025) [pubmed]

submitter keyword: Mitochondria, OXPHOS, intermembrane space, mitochondrial disease, respiratory chain

Alexis Jourdain
contact affiliation	Dpt. of Immunobiology University of Lausanne (UNIL), Boveresses 155 CH-1066 Epalinges
contact email	alexis.jourdain@unil.ch
lab head
Alexis Jourdain
contact affiliation	Department of Immunobiology, University of Lausanne
contact email	alexis.jourdain@unil.ch
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2025/07/PXD060278

PRIDE project URI

• PRIDE
  1. PXD060278
     1. Label: PRIDE project
     2. Name: An updated inventory of genes essential for oxidative phosphorylation identifies a mitochondrial origin in familial Ménière’s disease - Quantitative mouse tissue proteomics