PXD058185

PXD058185 is an original dataset announced via ProteomeXchange.

Title	Molecular pathology of SMIM20 deficiency in the mouse heart
Description	Mitochondria are key to cellular energetics, metabolism, and signaling. Their dysfunction is linked to devastating diseases including mitochondrial disorders, diabetes, neurodegenerative diseases, cardiac disorders, and cancer. Here, we present a novel knockout mouse model lacking the complex IV assembly factor SMIM20/MITRAC7. SMIM20-/- mice display cardiac pathology with reduced heart weight and cardiac output. Heart mitochondria present with reduced levels of complex IV associated with increased complex I activity, have altered fatty acid oxidation, and display elevated levels of ROS production. Interestingly, mutant mouse cardiomyocytes show unphysiological Ca2+ handling, which can be attributed to the increase in mitochondrial ROS production. Our study presents a new example of a tissue-specific phenotype in the context of OXPHOS dysfunction. Moreover, we identify a molecular link between complex IV dysfunction and Ca2+ handling at the endoplasmic reticulum through ROS signalling.
HostingRepository	PRIDE
AnnounceDate	2025-05-16
AnnouncementXML	Submission_2025-05-16_08:48:41.720.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Christof Lenz
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	No PTMs are included in the dataset
Instrument	timsTOF Pro 2

Revision	Datetime	Status	ChangeLog Entry
0	2024-11-22 15:21:17	ID requested
⏵ 1	2025-05-16 08:48:42	announced

10.1016/J.CELREP.2025.115723;

submitter keyword: mitochondria,SMIM20, proteome, cardiomyopathy

Christof Lenz
contact affiliation	University Medical Center Goettingen, Department of Clinical Chemistry, Core Facility Proteomics, Goettingen/Germany
contact email	christof.lenz@med.uni-goettingen.de
lab head
Christof Lenz
contact affiliation	Max Planck Institute for Biophysical Chemistry
contact email	christof.lenz@mpibpc.mpg.de
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/2025/05/PXD058185

PRIDE project URI

• PRIDE
  1. PXD058185
     1. Label: PRIDE project
     2. Name: Molecular pathology of SMIM20 deficiency in the mouse heart