PXD060682

PXD060682 is an original dataset announced via ProteomeXchange.

Title	The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retina
Description	BRI23, composed of the 23 last amino acids of the integral transmembrane protein 2B (ITM2B) C-terminus, is associated with several neurodegenerative diseases, including retinal dystrophy (RD) and familial dementia. Its role in the retina remains poorly understood. This study provides a comprehensive analysis of BRI23 interactome in the human retina. Using a peptide-bead coupling system, we identified 2302 proteins, primarily involved in mitochondrial processes, synaptic transmission and photoreceptor function. Our findings show that the BRI23-RD variant, associated with the ITM2B-related RD (IRRD), exhibits significantly altered protein interactions compared to the wild-type form. Notably, we observed an increased abundance of mitochondrial proteins and synaptic molecules, indicating a potential disruption of cellular pathways driven by the IRRD variant.
HostingRepository	PRIDE
AnnounceDate	2025-07-25
AnnouncementXML	Submission_2025-07-25_11:13:31.656.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Guillaume CHEVREUX
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	half cystine; phosphorylated residue; monohydroxylated residue; deamidated residue
Instrument	timsTOF Pro 2

Revision	Datetime	Status	ChangeLog Entry
0	2025-02-11 07:36:27	ID requested
⏵ 1	2025-07-25 11:13:32	announced

Dataset with its publication pending

submitter keyword: BRI23, Retina, Retinal dystrophy, Protein interactions,ITM2B

Isabelle Audo
contact affiliation	Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France
contact email	isabelle.audo@inserm.fr
lab head
Guillaume CHEVREUX
contact affiliation	Institut Jacques Monod, CNRS UMR7592
contact email	guillaume.chevreux@ijm.fr
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/PXD060682

PRIDE project URI

• PRIDE
  1. PXD060682
     1. Label: PRIDE project
     2. Name: The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retina