| http://purl.uniprot.org/citations/11739371 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11739371 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11739371 | http://www.w3.org/2000/01/rdf-schema#comment | "Lafora disease (progressive myoclonus epilepsy of Lafora type) is an autosomal recessive neurodegenerative disorder resulting from defects in the EPM2A gene. EPM2A encodes a 331-amino acid protein containing a carboxyl-terminal phosphatase catalytic domain. We demonstrate that the EPM2A gene product also contains an amino-terminal carbohydrate binding domain (CBD) and that the CBD is critical for association with glycogen both in vitro and in vivo. The CBD domain localizes the phosphatase to specific subcellular compartments that correspond to the expression pattern of glycogen processing enzyme, glycogen synthase. Mutations in the CBD result in mis-localization of the phosphatase and thereby suggest that the CBD targets laforin to intracellular glycogen particles where it is likely to function. Thus naturally occurring mutations within the CBD of laforin likely result in progressive myoclonus epilepsy due to mis-localization of phosphatase expression."xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.c100686200"xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.c100686200"xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/author | "Wang J."xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/author | "Wang J."xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/author | "Stuckey J.A."xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/author | "Stuckey J.A."xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/author | "Dixon J.E."xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/author | "Dixon J.E."xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/author | "Wishart M.J."xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/author | "Wishart M.J."xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/pages | "2377-2380"xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/pages | "2377-2380"xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/title | "A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen."xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/title | "A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen."xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/volume | "277"xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://purl.uniprot.org/core/volume | "277"xsd:string |
| http://purl.uniprot.org/citations/11739371 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11739371 |
| http://purl.uniprot.org/citations/11739371 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11739371 |