PXD080678-1

PXD080678 is an original dataset announced via ProteomeXchange.

Title	Rmnd1N238S mouse heart Proteomics
Description	Pathogenic, bi-allelic variants in RMND1 typically manifest as an early-onset multisystemic mitochondrial disease. Although in vitro evidence suggests a role for RMND1 in mitochondrial protein synthesis, its function in vivo has remained poorly defined. To answer this question, we have generated and characterized the first in vivo model of RMND1-disease. Rmnd1 homozygous mutant mice (Rmnd1N238S) exhibit a severe multisystem phenotype marked by widespread defects in oxidative phosphorylation (OXPHOS) assembly and activity defects. Quantitative proteomics analysis of Rmnd1N238S heart indicates profound metabolic remodeling, with concomitant significant alterations in the profile of mitochondrial ribosome proteins. These changes point to a late-stage assembly defect of the mitochondrial ribosome large subunit, a defect recapitulated by both RMND1 mutant and RMND1-depleted human cells. Together, our findings establish Rmnd1N238S mice as a robust in vivo model of RMND1-related disease and uncovers the key molecular defects that link RMND1 function to mitochondrial ribosome assembly and translation in vivo.
HostingRepository	PRIDE
AnnounceDate	2026-09-09
AnnouncementXML	Submission_2026-09-09_11:50:08.774.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Alba Pesini
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: NEWT:10090;
ModificationList	TMT6plex-126 reporter+balance reagent acylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2026-07-07 07:03:32	ID requested
⏵ 1	2026-09-09 11:50:09	announced

Dataset with its publication pending

submitter keyword: heart, proteomics,Rmnd1, mouse

Catarina M Quinzii
contact affiliation	Neurology Department, Columbia University
contact email	cmq2101@cumc.columbia.edu
lab head
Alba Pesini
contact affiliation	Columbia University
contact email	ap4072@cumc.columbia.edu
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/2026/09/PXD080678

PRIDE project URI

• PRIDE
  1. PXD080678
     1. Label: PRIDE project
     2. Name: Rmnd1N238S mouse heart Proteomics