{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Thomas RA"],"funding":["Fonds de Recherche du Québec - Santé","Canadian Institutes of Health Research"],"pagination":["447-56"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4947863"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["4(4)"],"pubmed_abstract":["<h4>Background</h4>The protein NgR1 is encoded by RTN4R, a gene linked to schizophrenia. We previously reported NgR1 as receptor for the epilepsy-linked protein LGI1. NgR1 regulates synapse number and synaptic plasticity, whereas LGI1 antagonizes NgR1 signaling and promotes synapse formation. Impairments in synapse formation are common in neurological disease and we hypothesized that an LGI1-NgR1 signaling pathway may contribute to the development of schizophrenia.<h4>Methods</h4>We screened two unrelated schizophrenic populations for variants in RTN4R and LGI1 using whole exome sequencing and Sanger sequencing. We tested the ability of LGI1 to bind rare coding variants of NgR1 using a cell surface binding assays and the signaling ability of NgR1 using COS7 cell-spreading assays.<h4>Result"],"journal":["Molecular genetics & genomic medicine"],"pubmed_title":["Identification of genetic variants of LGI1 and RTN4R (NgR1) linked to schizophrenia that are defective in NgR1-LGI1 signaling."],"pmcid":["PMC4947863"],"funding_grant_id":["37850"],"pubmed_authors":["Thomas RA","Rouleau GA","Ambalavanan A","Barker PA"],"additional_accession":[]},"is_claimable":false,"name":"Identification of genetic variants of LGI1 and RTN4R (NgR1) linked to schizophrenia that are defective in NgR1-LGI1 signaling.","description":"<h4>Background</h4>The protein NgR1 is encoded by RTN4R, a gene linked to schizophrenia. We previously reported NgR1 as receptor for the epilepsy-linked protein LGI1. NgR1 regulates synapse number and synaptic plasticity, whereas LGI1 antagonizes NgR1 signaling and promotes synapse formation. Impairments in synapse formation are common in neurological disease and we hypothesized that an LGI1-NgR1 signaling pathway may contribute to the development of schizophrenia.<h4>Methods</h4>We screened two unrelated schizophrenic populations for variants in RTN4R and LGI1 using whole exome sequencing and Sanger sequencing. We tested the ability of LGI1 to bind rare coding variants of NgR1 using a cell surface binding assays and the signaling ability of NgR1 using COS7 cell-spreading assays.<h4>Result","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Jul","modification":"2025-04-25T17:45:42.659Z","creation":"2019-03-27T02:18:33Z"},"accession":"S-EPMC4947863","cross_references":{"pubmed":["27468420"],"doi":["10.1002/mgg3.215"]}}