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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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Bibliografiska uppgifter
Huvudupphovsmän: Aguado, Carmen, Sarkar, Sovan, Korolchuk, Viktor I., Criado, Olga, Vernia, Santiago, Boya, Patricia, Sanz, Pascual, de Córdoba, Santiago Rodríguez, Knecht, Erwin, Rubinsztein, David C.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2010
Ämnen:
Länkar: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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