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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Bibliografiska uppgifter
Huvudupphovsmän: Gentry, Matthew S., Dowen, Robert H., Worby, Carolyn A., Mattoo, Seema, Ecker, Joseph R., Dixon, Jack E.
Materialtyp: Artigo
Språk:Inglês
Publicerad: The Rockefeller University Press 2007
Ämnen:
Research Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2064834/
https://ncbi.nlm.nih.gov/pubmed/17646401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1083/jcb.200704094
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