Abstract:Lafora disease (LD) is a fatal rare neurodegenerative disorder that affects young adolescents and has no treatment yet. The hallmark of LD is the presence of polyglucosan inclusions (PGs), called Lafora bodies (LBs), in the brain and peripheral tissues. LD is caused by mutations in either EPM2A or EPM2B genes, which respectively encode laforin, a glucan phosphatase, and malin, an E3-ubiquitin ligase, with identical clinical presentation. LD knockout mouse models (Epm2a-/- and Epm2b-/-) recapitulate PGs body ac… Show more
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