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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Bibliografiset tiedot
Päätekijät: Aguado, Carmen, Sarkar, Sovan, Korolchuk, Viktor I., Criado, Olga, Vernia, Santiago, Boya, Patricia, Sanz, Pascual, de Córdoba, Santiago Rodríguez, Knecht, Erwin, Rubinsztein, David C.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2010
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Articles
Linkit: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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