title: Impaired autophagy in Lafora disease.
abstract: Lafora disease (LD) is a progressive, lethal, autosomal recessive, neurodegenerative 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 neurodegeneration in LD, and discuss future investigations suggested by our data.
authors.affiliation: Laboratory of Cellular Biology, Valencia, Spain.
authors.forename: Erwin
authors.initials: E
authors.lastname: Knecht
authors.forename: Carmen
authors.initials: C
authors.lastname: Aguado
authors.forename: Sovan
authors.initials: S
authors.lastname: Sarkar
authors.forename: Viktor I
authors.initials: VI
authors.lastname: Korolchuk
authors.forename: Olga
authors.initials: O
authors.lastname: Criado-García
authors.forename: Santiago
authors.initials: S
authors.lastname: Vernia
authors.forename: Patricia
authors.initials: P
authors.lastname: Boya
authors.forename: Pascual
authors.initials: P
authors.lastname: Sanz
authors.forename: Santiago
authors.initials: S
authors.lastname: Rodríguez de Córdoba
authors.forename: David C
authors.initials: DC
authors.lastname: Rubinsztein
mesh_terms: D000818:Animals; D001343:Autophagy / Q000502:physiology*; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D020192:Lafora Disease / Q000503:physiopathology*; D051379:Mice; D046988:Proteasome Endopeptidase Complex / Q000378:metabolism; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases
chemical_list: D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human; D046988:Proteasome Endopeptidase Complex
references.citation: Hum Mol Genet. 2010 Jul 15;19(14):2867-76
references.pmid: 20453062