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 work. We analysed in detail the amino acid sequence of this protein. This suggested, as also observed by others, that it...
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