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Article

The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retina.

Scientific reports - 23 Jun 2026

Yacoub Tasnim Ben, Amprou Andréa, Letellier Camille, Michiels Christelle, Navarro Julien, Shamieh Said El, Monfort Tual, Azzollini Salvatore, Wohlschlegel Juliette, Chevreux Guillaume, Legros Véronique, Lemao Morgane, Lenaers Guy, Grieve Kate, Argentini Manuela, Zeitz Christina, Audo Isabelle

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Humans
Retina
Retinal Dystrophies
Mutation
Membrane Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adaptor Proteins, Signal Transducing

Protein Binding

Source

Open in PubMed Open full text

Identifiers

PMID: 42336880
DOI: 10.1038/s41598-026-53283-z
PMCID: PMC13575134

Genes

ITM2B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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