The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retina
Abstract
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.
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BibTeX
@article{yacoub2026itm2bassociated,
title = {{The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retina}},
author = {Tasnim Ben Yacoub and Andréa Amprou and Camille Letellier and Christelle Michiels and Julien Navarro and Said El Shamieh and Tual Monfort and Salvatore Azzollini and Juliette Wohlschlegel and Guillaume Chevreux and Véronique Legros and Morgane Lemao and Guy Lenaers and Kate Grieve and Manuela Argentini and Christina Zeitz and Isabelle Audo},
journal = {Scientific Reports},
year = {2026},
month = jun,
doi = {10.1038/s41598-026-53283-z},
url = {https://hal.science/hal-05797266v1},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retina
AU - Tasnim Ben Yacoub
AU - Andréa Amprou
AU - Camille Letellier
AU - Christelle Michiels
AU - Julien Navarro
AU - Said El Shamieh
AU - Tual Monfort
AU - Salvatore Azzollini
AU - Juliette Wohlschlegel
AU - Guillaume Chevreux
AU - Véronique Legros
AU - Morgane Lemao
AU - Guy Lenaers
AU - Kate Grieve
AU - Manuela Argentini
AU - Christina Zeitz
AU - Isabelle Audo
PY - 2026
DA - 2026/06/23
JO - Scientific Reports
DO - 10.1038/s41598-026-53283-z
UR - https://hal.science/hal-05797266v1
AB - 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.
SN - 2045-2322
ER -