| http://purl.uniprot.org/citations/12684507 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12684507 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12684507 | http://www.w3.org/2000/01/rdf-schema#comment | "Deficiency of GDP-Man:Man1GlcNAc2-PP-dolichol mannosyltransferase (hALG2), is the cause of a new type of congenital disorders of glycosylation (CDG) designated CDG-Ii. The patient presented normal at birth but developed in the 1st year of life a multisystemic disorder with mental retardation, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities. An accumulation of Man1GlcNAc2-PP-dolichol and Man2GlcNAc2-PP-dolichol was observed in skin fibroblasts of the patient. Incubation of patient fibroblast extracts with Man1GlcNAc2-PP-dolichol and GDP-mannose revealed a severely reduced activity of the mannosyltransferase elongating Man1GlcNAc2-PP dolichol. Because the Saccharomyces cerevisiae mutant alg2-1 was known to accumulate the same shortened dolichol-linked oligosaccharides as the patient, the yeast ALG2 sequence was used to identify the human ortholog. Genetic analysis revealed that the patient was heterozygous for a single nucleotide deletion and a single nucleotide substitution in the human ortholog of yeast ALG2. Expression of wild type but not of mutant hALG2 cDNA restored the mannosyltransferase activity and the biosynthesis of dolichol-linked oligosaccharides both in patient fibroblasts and in the alg2-1 yeast cells. hALG2 was shown to act as an alpha1,3-mannosyltransferase. The resulting Manalpha1,3-ManGlcNAc2-PP dolichol is further elongated by a yet unknown alpha1,6-mannosyltransferase."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m302850200"xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m302850200"xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Peng J."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Peng J."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Schwarz M."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Schwarz M."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "von Figura K."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "von Figura K."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Lehle L."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Lehle L."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Koerner C."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Koerner C."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Braulke T."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Braulke T."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Grzmil M."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Grzmil M."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Hasilik M."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Hasilik M."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Kohlschuetter A."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Kohlschuetter A."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Thiel C."xsd:string |
| http://purl.uniprot.org/citations/12684507 | http://purl.uniprot.org/core/author | "Thiel C."xsd:string |