Article
Relationship between glycogen accumulation and the laforin dual specificity phosphatase.
Biochemical and biophysical research communications - 24 Nov 2006
Wang Wei, Parker Gretchen E, Skurat Alexander V, Raben Nina, DePaoli-Roach Anna A, Roach Peter J
Abstract excerpt
Laforin, encoded by the EPM2A gene, is a dual specificity protein phosphatase that has a functional glycogen-binding domain. Mutations in the EPM2A gene account for around half of the cases of Lafora disease, an autosomal recessive neurodegenerative disorder, characterized by progressive myoclonu...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
