Ontology highlight
ABSTRACT:
SUBMITTER: Wang W
PROVIDER: S-EPMC2577384 | biostudies-literature | 2007 Jan
REPOSITORIES: biostudies-literature
Wang Wei W Lohi Hannes H Skurat Alexander V AV DePaoli-Roach Anna A AA Minassian Berge A BA Roach Peter J PJ
Archives of biochemistry and biophysics 20061103 2
Laforin, encoded by the EPM2A gene, by sequence is a member of the dual specificity protein phosphatase family. Mutations in the EPM2A gene account for around half of the cases of Lafora disease, an autosomal recessive neurodegenerative disorder, characterized by progressive myoclonus epilepsy. The hallmark of the disease is the presence of Lafora bodies, which contain polyglucosan, a poorly branched form of glycogen, in neurons, muscle and other tissues. Glycogen metabolizing enzymes were analy ...[more]