Article
Molecular characterization of laforin, a dual-specificity protein phosphatase implicated in Lafora disease.
Biochimie - 1 Dec 2006
Girard Jean-Marie, Lê K H Diêp, Lederer Florence
Abstract excerpt
Lafora disease is a progressive myoclonus epilepsy with an early fatal issue. Two genes were identified thus far, the mutations of which cause the disease. The first one, EPM2A, encodes the consensus sequence of a protein tyrosine phosphatase. Its product, laforin, is the object of the present wo...
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