| http://purl.uniprot.org/citations/22198226 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22198226 | http://www.w3.org/2000/01/rdf-schema#comment | "Glycogenin-1 initiates the glycogen synthesis in skeletal muscle by the autocatalytic formation of a short oligosaccharide at tyrosine 195. Glycogenin-1 catalyzes both the glucose-O-tyrosine linkage and the α1,4 glucosidic bonds linking the glucose molecules in the oligosaccharide. We recently described a patient with glycogen depletion in skeletal muscle as a result of a non-functional glycogenin-1. The patient carried a Thr83Met substitution in glycogenin-1. In this study we have investigated the importance of threonine 83 for the catalytic activity of glycogenin-1. Non-glucosylated glycogenin-1 constructs, with various amino acid substitutions in position 83 and 195, were expressed in a cell-free expression system and autoglucosylated in vitro. The autoglucosylation was analyzed by gel-shift on western blot, incorporation of radiolabeled UDP-(14)C-glucose and nano-liquid chromatography with tandem mass spectrometry (LC/MS/MS). We demonstrate that glycogenin-1 with the Thr83Met substitution is unable to form the glucose-O-tyrosine linkage at tyrosine 195 unless co-expressed with the catalytically active Tyr195Phe glycogenin-1. Our results explain the glycogen depletion in the patient expressing only Thr83Met glycogenin-1 and why heterozygous carriers without clinical symptoms show a small proportion of unglucosylated glycogenin-1."xsd:string |
| http://purl.uniprot.org/citations/22198226 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.bbadis.2011.11.017"xsd:string |
| http://purl.uniprot.org/citations/22198226 | http://purl.uniprot.org/core/author | "Nilsson J."xsd:string |
| http://purl.uniprot.org/citations/22198226 | http://purl.uniprot.org/core/author | "Halim A."xsd:string |
| http://purl.uniprot.org/citations/22198226 | http://purl.uniprot.org/core/author | "Larson G."xsd:string |
| http://purl.uniprot.org/citations/22198226 | http://purl.uniprot.org/core/author | "Oldfors A."xsd:string |
| http://purl.uniprot.org/citations/22198226 | http://purl.uniprot.org/core/author | "Pedersen A."xsd:string |
| http://purl.uniprot.org/citations/22198226 | http://purl.uniprot.org/core/author | "Nilsson J.'"xsd:string |
| http://purl.uniprot.org/citations/22198226 | http://purl.uniprot.org/core/author | "Moslemi A.R."xsd:string |
| http://purl.uniprot.org/citations/22198226 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22198226 | http://purl.uniprot.org/core/name | "Biochim Biophys Acta"xsd:string |
| http://purl.uniprot.org/citations/22198226 | http://purl.uniprot.org/core/pages | "493-499"xsd:string |
| http://purl.uniprot.org/citations/22198226 | http://purl.uniprot.org/core/title | "Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation."xsd:string |
| http://purl.uniprot.org/citations/22198226 | http://purl.uniprot.org/core/volume | "1822"xsd:string |
| http://purl.uniprot.org/citations/22198226 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22198226 |
| http://purl.uniprot.org/citations/22198226 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/22198226 |
| http://purl.uniprot.org/uniprot/#_B2R5R5-mappedCitation-22198226 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22198226 |
| http://purl.uniprot.org/uniprot/#_B4DSX6-mappedCitation-22198226 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22198226 |
| http://purl.uniprot.org/uniprot/#_G5E9W8-mappedCitation-22198226 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22198226 |
| http://purl.uniprot.org/uniprot/#_P46976-mappedCitation-22198226 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22198226 |
| http://purl.uniprot.org/uniprot/#_Q8N5Y3-mappedCitation-22198226 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22198226 |
| http://purl.uniprot.org/uniprot/P46976 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/22198226 |
| http://purl.uniprot.org/uniprot/G5E9W8 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/22198226 |
| http://purl.uniprot.org/uniprot/Q8N5Y3 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/22198226 |