| http://purl.uniprot.org/citations/11709191 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11709191 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11709191 | http://www.w3.org/2000/01/rdf-schema#comment | "Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O-mannosyl glycosylation is a rare type of protein modification that is observed in a limited number of glycoproteins of brain, nerve, and skeletal muscle. Here we isolated a human cDNA for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1), which participates in O-mannosyl glycan synthesis. We also identified six independent mutations of the POMGnT1 gene in six patients with MEB. Expression of most frequent mutation revealed a great loss of the enzymatic activity. These findings suggest that interference in O-mannosyl glycosylation is a new pathomechanism for muscular dystrophy as well as neuronal migration disorder."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.org/dc/terms/identifier | "doi:10.1016/s1534-5807(01)00070-3"xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.org/dc/terms/identifier | "doi:10.1016/s1534-5807(01)00070-3"xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Endo T."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Endo T."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Herrmann R."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Herrmann R."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Mizuno M."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Mizuno M."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Takahashi S."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Takahashi S."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Taniguchi K."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Taniguchi K."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Takeuchi M."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Takeuchi M."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Yoshida A."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Yoshida A."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Kobayashi K."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Kobayashi K."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Manya H."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Manya H."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Talim B."xsd:string |
| http://purl.uniprot.org/citations/11709191 | http://purl.uniprot.org/core/author | "Talim B."xsd:string |