PXD060682-1

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

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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