{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wohlschlegel J"],"funding":["Foundation Fighting Blindness grant","Agence Nationale de la Recherche","IHU FOReSIGHT","Retina France","UNADEV","Fondation de France","LABEX LIFESENSES"],"pagination":["17210"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8390696"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11(1)"],"pubmed_abstract":["Integral Membrane Protein 2 B (ITM2B) is a type II ubiquitous transmembrane protein which role remains unclear. ITM2B mutations have been associated with different disorders: mutations leading to longer mutant proteins have been reported in two distinct Alzheimer-like autosomal dominant disorders with early-onset progressive dementia and cerebellar ataxia. Both disorders share neurological features including severe cerebral amyloid angiopathy, non-neuritic plaques, and fibrillary tangles as in Alzheimer disease. Our group reported a missense mutation in ITM2B, in an unusual retinal dystrophy with no dementia. This finding suggests a specific role of ITM2B in the retina. As the identification of retinal-specific ITM2B partners could bring new insights into the cellular functions of ITM2B, w"],"journal":["Scientific reports"],"pubmed_title":["First identification of ITM2B interactome in the human retina."],"pmcid":["PMC8390696"],"funding_grant_id":["ANR-10-LABX-65","ANR-11-IDEX-0004-0","[BR-GE-0619-0761-INSERM]","ANR-18-IAHU-0001"],"pubmed_authors":["Thuret G","Leger T","Audo I","Argentini M","Forster V","Condroyer C","Michiels C","Letellier C","He Z","Wohlschlegel J","Zeitz C"],"additional_accession":[]},"is_claimable":false,"name":"First identification of ITM2B interactome in the human retina.","description":"Integral Membrane Protein 2 B (ITM2B) is a type II ubiquitous transmembrane protein which role remains unclear. ITM2B mutations have been associated with different disorders: mutations leading to longer mutant proteins have been reported in two distinct Alzheimer-like autosomal dominant disorders with early-onset progressive dementia and cerebellar ataxia. Both disorders share neurological features including severe cerebral amyloid angiopathy, non-neuritic plaques, and fibrillary tangles as in Alzheimer disease. Our group reported a missense mutation in ITM2B, in an unusual retinal dystrophy with no dementia. This finding suggests a specific role of ITM2B in the retina. As the identification of retinal-specific ITM2B partners could bring new insights into the cellular functions of ITM2B, w","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Aug","modification":"2026-05-08T00:39:53.376Z","creation":"2022-02-11T10:08:54.006Z"},"accession":"S-EPMC8390696","cross_references":{"pubmed":["34446781"],"doi":["10.1038/s41598-021-96571-6"]}}