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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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Dettagli Bibliografici
Autori principali: Aguado, Carmen, Sarkar, Sovan, Korolchuk, Viktor I., Criado, Olga, Vernia, Santiago, Boya, Patricia, Sanz, Pascual, de Córdoba, Santiago Rodríguez, Knecht, Erwin, Rubinsztein, David C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2010
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Accesso online: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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