Format

Send to

Choose Destination
Autophagy. 2010 Oct;6(7):991-3. doi: 10.4161/auto6.7.13308. Epub 2010 Oct 11.

Impaired autophagy in Lafora disease.

Author information

1
Laboratory of Cellular Biology, Valencia, Spain.

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.

PMID:
20818165
PMCID:
PMC3039746
DOI:
10.4161/auto6.7.13308
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Taylor & Francis Icon for PubMed Central
Loading ...
Support Center