| http://purl.uniprot.org/citations/28228639 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28228639 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28228639 | http://www.w3.org/2000/01/rdf-schema#comment | "N-methyl-d-aspartate receptors (NMDARs) play important roles in brain development and neurological disease. We report two individuals with similar dominant de novo GRIN1 mutations (c.1858 G>A and c.1858 G>C; both p.G620R). Both individuals presented at birth with developmental delay and hypotonia associated with behavioral abnormalities and stereotypical movements. Recombinant NMDARs containing the mutant GluN1-G620R together with either GluN2A or GluN2B were evaluated for changes in their trafficking to the plasma membrane and their electrophysiological properties. GluN1-G620R/GluN2A complexes showed a mild reduction in trafficking, a ~2-fold decrease in glutamate and glycine potency, a strong decrease in sensitivity to Mg2+ block, and a significant reduction of current responses to a maximal effective concentration of agonists. GluN1-G620R/GluN2B complexes showed significantly reduced delivery of protein to the cell surface associated with similarly altered electrophysiology. These results indicate these individuals may have suffered neurodevelopmental deficits as a result of the decreased presence of GluN1-G620R/GluN2B complexes on the neuronal surface during embryonic brain development and reduced current responses of GluN1-G620R-containing NMDARs after birth. These cases emphasize the importance of comprehensive functional characterization of de novo mutations and illustrates how a combination of several distinct features of NMDAR expression, trafficking and function can be present and influence phenotype."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.org/dc/terms/identifier | "doi:10.1038/jhg.2017.19"xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.org/dc/terms/identifier | "doi:10.1038/jhg.2017.19"xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Chen W."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Chen W."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Yuan H."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Yuan H."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "McGuire M."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "McGuire M."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Au M."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Au M."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Pierson T.M."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Pierson T.M."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Madan-Khetarpal S."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Madan-Khetarpal S."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Graham J.M."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Graham J.M."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Swanger S.A."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Swanger S.A."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Traynelis S.F."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Traynelis S.F."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Tankovic A."xsd:string |
| http://purl.uniprot.org/citations/28228639 | http://purl.uniprot.org/core/author | "Tankovic A."xsd:string |