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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Détails bibliographiques
Auteurs principaux: Aguado, Carmen, Sarkar, Sovan, Korolchuk, Viktor I., Criado, Olga, Vernia, Santiago, Boya, Patricia, Sanz, Pascual, de Córdoba, Santiago Rodríguez, Knecht, Erwin, Rubinsztein, David C.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2010
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Articles
Accès en ligne: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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