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| http://purl.uniprot.org/citations/22815132 | http://www.w3.org/2000/01/rdf-schema#comment | "Lafora disease (LD) is a fatal, autosomal recessive neurodegenerative disorder that results in progressive myoclonus epilepsy. A hallmark of LD is the accumulation of insoluble, aberrant glycogen-like structures called Lafora bodies. LD is caused by mutations in the gene encoding the E3 ubiquitin ligase malin or the glucan phosphatase laforin. Although LD was first described in 1911, its symptoms are still lacking a consistent molecular explanation and, consequently, a cure is far from being achieved. Some data suggest that malin forms a functional complex with laforin. This complex promotes the ubiquitination of proteins involved in glycogen metabolism and misregulation of pathways involved in this process results in Lafora body formation. In addition, recent results obtained from both cell culture and LD mouse models have highlighted a role of the laforin-malin complex in the regulation of endoplasmic reticulum-stress and protein clearance pathways. These results suggest that LD should be considered as a novel member of the group of protein clearance diseases such as Parkinson's, Huntington's, or Alzheimer's, in addition to being a glycogen metabolism disease. Herein, we review the latest results concerning the role of malin in LD and attempt to decipher its function. © 2012 IUBMB IUBMB Life, 64(10): 801-808, 2012."xsd:string |
| http://purl.uniprot.org/citations/22815132 | http://purl.org/dc/terms/identifier | "doi:10.1002/iub.1072"xsd:string |
| http://purl.uniprot.org/citations/22815132 | http://purl.uniprot.org/core/author | "Gentry M.S."xsd:string |
| http://purl.uniprot.org/citations/22815132 | http://purl.uniprot.org/core/author | "Roma-Mateo C."xsd:string |
| http://purl.uniprot.org/citations/22815132 | http://purl.uniprot.org/core/author | "Sanz P."xsd:string |
| http://purl.uniprot.org/citations/22815132 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
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| http://purl.uniprot.org/citations/22815132 | http://purl.uniprot.org/core/title | "Deciphering the role of malin in the lafora progressive myoclonus epilepsy."xsd:string |
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