PXD063923

PXD063923 is an original dataset announced via ProteomeXchange.

Title	The Proteome of mouse retinas harbouring CSNB2 variants
Description	Pathogenic variants in the CACNA1f gene are linked to congenital stationary night blindness type 2 though their specific molecular effects remain elusive. This study examines the retinal impact of two variants: a truncation (RX) and a gain-of-function (IT) to explore how variant-specific retinal proteome changes relate to disease severity. We developed an enrichment approach involving two centrifugation steps after cell lysis followed by in gel digest and analyzed by label-free proteomics. Proteomic analysis identified ~4000 proteins across wild-type and mutant retinas, revealing disruptions in synaptic remodeling, metabolism, postsynaptic organization, and calcium signaling for both variants. However, IT caused broader dysregulation than RX, including upregulation of stress response and apoptosis pathways and loss of vesicle-associated proteins.
HostingRepository	PRIDE
AnnounceDate	2025-11-11
AnnouncementXML	Submission_2025-11-11_00:15:05.353.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Matthias Ganglberger
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: NEWT:10090;
ModificationList	No PTMs are included in the dataset
Instrument	Orbitrap Exploris 480

Revision	Datetime	Status	ChangeLog Entry
0	2025-05-14 04:40:16	ID requested
⏵ 1	2025-11-11 00:15:05	announced

10.1016/J.MCPRO.2025.101462;

submitter keyword: mouse, label-free quantification, data-independent acquisition, retina

Alexandra Koschak
contact affiliation	Institute of Pharmacy, Pharmacology and Toxicology Unit, University of Innsbruck,Innsbruck, Austria
contact email	alexandra.koschak@uibk.ac.at
lab head
Matthias Ganglberger
contact affiliation	Institute of Pharmacy, Pharmacology and Toxicology Unit, University of Innsbruck, Innsbruck, Austria
contact email	matthias.ganglberger@uibk.ac.at
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/2025/11/PXD063923

PRIDE project URI

• PRIDE
  1. PXD063923
     1. Label: PRIDE project
     2. Name: The Proteome of mouse retinas harbouring CSNB2 variants