English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/53039
Share/Impact:
Statistics
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:
Title

Impaired autophagy in Lafora disease

AuthorsKnecht, Erwin; Aguado, Carmen; Sarkar, Sovan; Korolchuk, Viktor I.; Criado-García, Olga ; Vernia, Santiago ; Boya, Patricia ; Sanz, Pascual ; Rodríguez de Córdoba, Santiago ; Rubinsztein, David C.
KeywordsAutophagy
glycogen metabolism
Lafora disease
laforin
malin
neurogeneration
Issue Date1-Oct-2010
PublisherLandes Bioscience
CitationAutophagy 6(7): 991-993 (2010)
AbstractLafora disease (LD) is a progressive, lethal, autosomal recessive, neurode- generative disorder that manifests with myoclonus epilepsy. LD is characterized by the presence of intracellular inclusion bodies called Lafora bodies (LB),in brain, spinal cord and other tissues. More than 50 percent of LD is caused by mutations in EPM2A that encodes laforin. Here we review our recent findings that revealed that laforin regulates autophagy. We consider how autophagy compromise may predispose to LB formation and odegeneration in LD, and discuss future investigations suggested by our data
Description3 páginas, 1 figura -- PAGS nros. 991-993
Publisher version (URL)http://dx.doi.org/10.4161/auto.6.7.13308
URIhttp://hdl.handle.net/10261/53039
DOI10.4161/auto.6.7.13308
ISSN1554-8627
E-ISSN1554-8635
Appears in Collections:(CIB) Artículos
(IBV) Artículos
Files in This Item:
File Description SizeFormat 
restringido.pdf21,67 kBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.