| http://purl.uniprot.org/citations/19576565 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19576565 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19576565 | http://www.w3.org/2000/01/rdf-schema#comment | "Alpha-dystroglycanopathies such as Walker Warburg syndrome represent an important subgroup of the muscular dystrophies that have been related to defective O-mannosylation of alpha-dystroglycan. In many patients, the underlying genetic etiology remains unsolved. Isolated muscular dystrophy has not been described in the congenital disorders of glycosylation (CDG) caused by N-linked protein glycosylation defects. Here, we present a genetic N-glycosylation disorder with muscular dystrophy in the group of CDG type I. Extensive biochemical investigations revealed a strongly reduced dolichol-phosphate-mannose (Dol-P-Man) synthase activity. Sequencing of the three DPM subunits and complementation of DPM3-deficient CHO2.38 cells showed a pathogenic p.L85S missense mutation in the strongly conserved coiled-coil domain of DPM3 that tethers catalytic DPM1 to the ER membrane. Cotransfection experiments in CHO cells showed a reduced binding capacity of DPM3(L85S) for DPM1. Investigation of the four Dol-P-Man-dependent glycosylation pathways in the ER revealed strongly reduced O-mannosylation of alpha-dystroglycan in a muscle biopsy, thereby explaining the clinical phenotype of muscular dystrophy. This mild Dol-P-Man biosynthesis defect due to DPM3 mutations is a cause for alpha-dystroglycanopathy, thereby bridging the congenital disorders of glycosylation with the dystroglycanopathies."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2009.06.006"xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2009.06.006"xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Hofsteenge J."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Hofsteenge J."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Hess D."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Hess D."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Maeda Y."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Maeda Y."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Klein D."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Klein D."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Wevers R.A."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Wevers R.A."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Morava E."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Morava E."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "van den Heuvel L."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "van den Heuvel L."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Lehle L."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Lehle L."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Ashida H."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Ashida H."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Lefeber D.J."xsd:string |
| http://purl.uniprot.org/citations/19576565 | http://purl.uniprot.org/core/author | "Lefeber D.J."xsd:string |