Impaired autophagy in Lafora disease.
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.
Knecht
Erwin
E
Laboratory of Cellular Biology, Valencia, Spain.
Aguado
Carmen
C
Sarkar
Sovan
S
Korolchuk
Viktor I
VI
Criado-García
Olga
O
Vernia
Santiago
S
Boya
Patricia
P
Sanz
Pascual
P
Rodríguez de Córdoba
Santiago
S
Rubinsztein
David C
DC
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
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
Hum Mol Genet. 2010 Jul 15;19(14):2867-76
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