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The phosphatase laforin crosses evolutionary boundaries and links carbohydrate metabolism to neuronal disease

Lafora disease (LD) is a progressive myoclonic epilepsy resulting in severe neurodegeneration followed by death. A hallmark of LD is the accumulation of insoluble polyglucosans called Lafora bodies (LBs). LD is caused by mutations in the gene encoding the phosphatase laforin, which reportedly exists...

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Detalles Bibliográficos
Autores principales: Gentry, Matthew S., Dowen, Robert H., Worby, Carolyn A., Mattoo, Seema, Ecker, Joseph R., Dixon, Jack E.
Formato: Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2064834/
https://www.ncbi.nlm.nih.gov/pubmed/17646401
http://dx.doi.org/10.1083/jcb.200704094