| http://purl.uniprot.org/citations/17576745 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17576745 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17576745 | http://www.w3.org/2000/01/rdf-schema#comment | "Bilateral frontoparietal polymicrogyria (BFPP) is a congenital brain malformation resulting in irregularities on the surface of the cortex, where normally convoluted gyri are replaced by numerous (poly) and noticeably smaller (micro) gyri. Individuals with BFPP suffer from epilepsy, mental retardation, language impairment and motor developmental delay. Mutations in the gene-encoding G protein-coupled receptor 56 (GPR56) cause BFPP; however, it remains unclear how these mutations affect GPR56 function. Here, we examine the biochemical properties and protein trafficking of wild-type and mutant GPR56. We demonstrate that GPR56 protein undergoes two major modifications, GPS domain-mediated protein cleavage and N-glycosylation, and that the N-terminal fragment can be released from the cell surface. In contrast to the wild-type protein, disease-associated GPR56 missense mutations in the tip of the N-terminal domain (R38Q, R38W, Y88C and C91S) produce proteins with reduced intracellular trafficking and poor cell surface expression, whereas the two mutations in the GPS domain (C346S and W349S) produce proteins with dramatically impaired cleavage that fail to traffic beyond the endoplasmic reticulum. Cell-trafficking impairments are abrogated in part by pharmacological chaperones that can partially rescue mutant GPR56 cell surface expression. These data demonstrate that some BFPP-associated mutations in GPR56 impair trafficking of the mutant protein to the plasma membrane, thus providing insights into how BFPP-associated mutations affect GPR56 function."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddm144"xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddm144"xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Jin Z."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Jin Z."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Piao X."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Piao X."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Tietjen I."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Tietjen I."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Bu L."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Bu L."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Walsh C.A."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Walsh C.A."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Gaur S.K."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Gaur S.K."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Liu-Yesucevitz L."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/author | "Liu-Yesucevitz L."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/pages | "1972-1985"xsd:string |
| http://purl.uniprot.org/citations/17576745 | http://purl.uniprot.org/core/pages | "1972-1985"xsd:string |