| http://purl.uniprot.org/citations/29056747 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29056747 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29056747 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the proline-rich transmembrane protein 2 (PRRT2) are associated with paroxysmal kinesigenic dyskinesia (PKD) and several other paroxysmal neurological diseases, but the PRRT2 function and pathogenic mechanisms remain largely obscure. Here we show that PRRT2 is a presynaptic protein that interacts with components of the SNARE complex and downregulates its formation. Loss-of-function mutant mice showed PKD-like phenotypes triggered by generalized seizures, hyperthermia, or optogenetic stimulation of the cerebellum. Mutant mice with specific PRRT2 deletion in cerebellar granule cells (GCs) recapitulate the behavioral phenotypes seen in Prrt2-null mice. Furthermore, recording made in cerebellar slices showed that optogenetic stimulation of GCs results in transient elevation followed by suppression of Purkinje cell firing. The anticonvulsant drug carbamazepine used in PKD treatment also relieved PKD-like behaviors in mutant mice. Together, our findings identify PRRT2 as a novel regulator of the SNARE complex and provide a circuit mechanism underlying the PRRT2-related behaviors."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.org/dc/terms/identifier | "doi:10.1038/cr.2017.128"xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.org/dc/terms/identifier | "doi:10.1038/cr.2017.128"xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Li K."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Li K."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Li D."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Li D."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Shen Q."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Shen Q."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Wang L."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Wang L."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Wu M.Y."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Wu M.Y."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Cheng X.W."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Cheng X.W."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Liu Y.Y."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Liu Y.Y."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Liu J.W."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Liu J.W."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Yu C.L."xsd:string |
| http://purl.uniprot.org/citations/29056747 | http://purl.uniprot.org/core/author | "Yu C.L."xsd:string |