Article
Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.
Human molecular genetics - 1 Mar 2008
Solaz-Fuster Maria Carmen, Gimeno-Alcañiz José Vicente, Ros Susana, Fernandez-Sanchez Maria Elena, Garcia-Fojeda Belen, Criado Garcia Olga, Vilchez David, Dominguez Jorge, Garcia-Rocha Mar, Sanchez-Piris Maribel, Aguado Carmen, Knecht Erwin, Serratosa Jose, Guinovart Joan Josep, Sanz Pascual, Rodriguez de Córdoba Santiago
Abstract excerpt
Lafora progressive myoclonus epilepsy (LD) is a fatal autosomal recessive neurodegenerative disorder characterized by the presence of glycogen-like intracellular inclusions called Lafora bodies. LD is caused by mutations in two genes, EPM2A and EPM2B, encoding respectively laforin, a dual-specificity protein phosphatase, and malin, an E3 ubiquitin ligase. Previously, we and others have suggested that the...
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