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Laforin, the most common protein mutated in Lafora disease, regulates autophagy

Lafora disease (LD) is an autosomal recessive, progressive myoclonus epilepsy, which is characterized by the accumulation of polyglucosan inclusion bodies, called Lafora bodies, in the cytoplasm of cells in the central nervous system and in many other organs. However, it is unclear at the moment whe...

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Detalhes bibliográficos
Main Authors: Aguado, Carmen, Sarkar, Sovan, Korolchuk, Viktor I., Criado, Olga, Vernia, Santiago, Boya, Patricia, Sanz, Pascual, de Córdoba, Santiago Rodríguez, Knecht, Erwin, Rubinsztein, David C.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2893813/
https://ncbi.nlm.nih.gov/pubmed/20453062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq190
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