| http://purl.uniprot.org/citations/9697694 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9697694 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9697694 | http://www.w3.org/2000/01/rdf-schema#comment | "Stargazer mice have spike-wave seizures characteristic of absence epilepsy, with accompanying defects in the cerebellum and inner ear. We describe here a novel gene, Cacng2, whose expression is disrupted in two stargazer alleles. It encodes a 36-kD protein (stargazin) with structural similarity to the gamma subunit of skeletal muscle voltage-gated calcium (Ca2+) channels. Stargazin is brain-specific and, like other neuronal Ca2+-channel subunits, is enriched in synaptic plasma membranes. In vitro, stargazin increases steady-state inactivation of alpha1 class A Ca2+ channels. The anticipated effect in stargazer mutants, inappropriate Ca2+ entry, may contribute to their more pronounced seizure phenotype compared with other mouse absence models with Ca2+-channel defects. The discovery that the stargazer gene encodes a gamma subunit completes the identification of the major subunit types for neuronal Ca2+ channels, namely alpha1, alpha2delta, beta and gamma, providing a new opportunity to understand how these channels function in the mammalian brain and how they may be targeted in the treatment of neuroexcitability disorders."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.org/dc/terms/identifier | "doi:10.1038/1228"xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.org/dc/terms/identifier | "doi:10.1038/1228"xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Mori Y."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Mori Y."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Campbell K.P."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Campbell K.P."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Frankel W.N."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Frankel W.N."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Mahaffey C.L."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Mahaffey C.L."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Letts V.A."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Letts V.A."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Felix R."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Felix R."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Arikkath J."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Arikkath J."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Bartlett F.S. II"xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Bartlett F.S. II"xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Biddlecome G.H."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Biddlecome G.H."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Valenzuela A."xsd:string |
| http://purl.uniprot.org/citations/9697694 | http://purl.uniprot.org/core/author | "Valenzuela A."xsd:string |