| http://purl.uniprot.org/citations/24153177 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24153177 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24153177 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in SHANK3 and large duplications of the region spanning SHANK3 both cause a spectrum of neuropsychiatric disorders, indicating that proper SHANK3 dosage is critical for normal brain function. However, SHANK3 overexpression per se has not been established as a cause of human disorders because 22q13 duplications involve several genes. Here we report that Shank3 transgenic mice modelling a human SHANK3 duplication exhibit manic-like behaviour and seizures consistent with synaptic excitatory/inhibitory imbalance. We also identified two patients with hyperkinetic disorders carrying the smallest SHANK3-spanning duplications reported so far. These findings indicate that SHANK3 overexpression causes a hyperkinetic neuropsychiatric disorder. To probe the mechanism underlying the phenotype, we generated a Shank3 in vivo interactome and found that Shank3 directly interacts with the Arp2/3 complex to increase F-actin levels in Shank3 transgenic mice. The mood-stabilizing drug valproate, but not lithium, rescues the manic-like behaviour of Shank3 transgenic mice raising the possibility that this hyperkinetic disorder has a unique pharmacogenetic profile."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.org/dc/terms/identifier | "doi:10.1038/nature12630"xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.org/dc/terms/identifier | "doi:10.1038/nature12630"xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Chen H."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Chen H."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Kang H."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Kang H."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Han K."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Han K."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Lu H."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Lu H."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Sun H."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Sun H."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Wu Z."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Wu Z."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Tang J."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Tang J."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Patel A."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Patel A."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Yu P."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Yu P."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Schaaf C.P."xsd:string |
| http://purl.uniprot.org/citations/24153177 | http://purl.uniprot.org/core/author | "Schaaf C.P."xsd:string |