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Article

Dysfunctions in endosomal–lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease

30 Sept 2011

Abstract excerpt

Lafora progressive myoclonus epilepsy (also known as Lafora disease, LD) is an inherited and fatal form of a neurodegenerative disorder characterized by the presence of carbohydrate-rich inclusions called Lafora bodies. LD can be caused by defects in the laforin phosphatase or the malin ubiquitin ligase and the clinical symptoms resulting from these two defects are almost similar. In order to understand the...

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PMID: 21965301
DOI: 10.1093/hmg/ddr452

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