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Genetic Depletion of the Malin E3 Ubiquitin Ligase in Mice Leads to Lafora Bodies and the Accumulation of Insoluble Laforin

Approximately 90% of cases of Lafora disease, a fatal teenage-onset progressive myoclonus epilepsy, are caused by mutations in either the EPM2A or the EPM2B genes that encode, respectively, a glycogen phosphatase called laforin and an E3 ubiquitin ligase called malin. Lafora disease is characterized...

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Detalhes bibliográficos
Main Authors: DePaoli-Roach, Anna A., Tagliabracci, Vincent S., Segvich, Dyann M., Meyer, Catalina M., Irimia, Jose M., Roach, Peter J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2919100/
https://ncbi.nlm.nih.gov/pubmed/20538597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.148668
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