Article
Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.
Proceedings of the National Academy of Sciences of the United States of America - 4 Dec 2007
Tagliabracci Vincent S, Turnbull Julie, Wang Wei, Girard Jean-Marie, Zhao Xiaochu, Skurat Alexander V, Delgado-Escueta Antonio V, Minassian Berge A, Depaoli-Roach Anna A, Roach Peter J
Abstract excerpt
Lafora disease is a progressive myoclonus epilepsy with onset typically in the second decade of life and death within 10 years. Lafora bodies, deposits of abnormally branched, insoluble glycogen-like polymers, form in neurons, muscle, liver, and other tissues. Approximately half of the cases of Lafora disease result from mutations in the EPM2A gene, which encodes laforin, a member of the dual-specificity protein...
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