| http://purl.uniprot.org/citations/21383172 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21383172 | http://www.w3.org/2000/01/rdf-schema#comment | "Glutamate receptor interacting protein 1 (GRIP1) is a neuronal scaffolding protein that interacts directly with the C termini of glutamate receptors 2/3 (GluA2/3) via its PDZ domains 4 to 6 (PDZ4-6). We found an association (P<0.05) of a SNP within the PDZ4-6 genomic region with autism by genotyping autistic patients (n=480) and matched controls (n=480). Parallel sequencing identified five rare missense variants within or near PDZ4-6 only in the autism cohort, resulting in a higher cumulative mutation load (P=0.032). Two variants correlated with a more severe deficit in reciprocal social interaction in affected sibling pairs from proband families. These variants were associated with altered interactions with GluA2/3 and faster recycling and increased surface distribution of GluA2 in neurons, suggesting gain-of-function because GRIP1/2 deficiency showed opposite phenotypes. Grip1/2 knockout mice exhibited increased sociability and impaired prepulse inhibition. These results support a role for GRIP in social behavior and implicate GRIP1 variants in modulating autistic phenotype."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1102233108"xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Sharma K."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Wang T."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Valle D."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Huganir R.L."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Schwartz C.E."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Stevenson R.E."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Thomas G.M."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Fallin M.D."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Skinner C."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Anggono V."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Pletnikov M."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Niranjan T."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Mejias R."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Adamczyk A."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/author | "Kaufmann W."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/name | "Proc Natl Acad Sci U S A"xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/pages | "4920-4925"xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/title | "Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism."xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://purl.uniprot.org/core/volume | "108"xsd:string |
| http://purl.uniprot.org/citations/21383172 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/21383172 |
| http://purl.uniprot.org/citations/21383172 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/21383172 |