| http://purl.uniprot.org/citations/17034757 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17034757 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17034757 | http://www.w3.org/2000/01/rdf-schema#comment | "The recent identification of mutations in genes encoding demonstrated or putative glycosyltransferases has revealed a novel mechanism for congenital muscular dystrophy. Hypoglycosylated alpha-dystroglycan (alpha-DG) is commonly seen in Fukuyama-type congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Large(myd) mice. POMGnT1 and POMTs, the gene products responsible for MEB and WWS, respectively, synthesize unique O-mannose sugar chains on alpha-DG. The function of fukutin, the gene product responsible for FCMD, remains undetermined. Here we show that fukutin co-localizes with POMGnT1 in the Golgi apparatus. Direct interaction between fukutin and POMGnT1 was confirmed by co-immunoprecipitation and two-hybrid analyses. The transmembrane region of fukutin mediates its localization to the Golgi and participates in the interaction with POMGnT1. Y371C, a missense mutation found in FCMD, retains fukutin in the ER and also redirects POMGnT1 to the ER. Finally, we demonstrate reduced POMGnT1 enzymatic activity in transgenic knock-in mice carrying the retrotransposal insertion in the fukutin gene, the prevalent mutation in FCMD. From these findings, we propose that fukutin forms a complex with POMGnT1 and may modulate its enzymatic activity."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.bbrc.2006.09.129"xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.bbrc.2006.09.129"xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Endo T."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Endo T."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Nagai Y."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Nagai Y."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Xiong H."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Xiong H."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Takeda S."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Takeda S."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Wang F."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Wang F."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Kobayashi K."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Kobayashi K."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Tachikawa M."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Tachikawa M."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Manya H."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Manya H."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Toda T."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Toda T."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Kanagawa M."xsd:string |
| http://purl.uniprot.org/citations/17034757 | http://purl.uniprot.org/core/author | "Kanagawa M."xsd:string |