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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...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The Rockefeller University Press
2007
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| 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 |