| First Author | Turnbull J | Year | 2011 |
| Journal | PLoS Genet | Volume | 7 |
| Issue | 4 | Pages | e1002037 |
| PubMed ID | 21552327 | Mgi Jnum | J:242755 |
| Mgi Id | MGI:5906209 | Doi | 10.1371/journal.pgen.1002037 |
| Citation | Turnbull J, et al. (2011) PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease. PLoS Genet 7(4):e1002037 |
| abstractText | Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME), and one of the severest epilepsies. Pathologically, a starch-like compound, polyglucosan, accumulates in neuronal cell bodies and overtakes neuronal small processes, mainly dendrites. Polyglucosan formation is catalyzed by glycogen synthase, which is activated through dephosphorylation by glycogen-associated protein phosphatase-1 (PP1). Here we remove PTG, one of the proteins that target PP1 to glycogen, from mice with Lafora disease. This results in near-complete disappearance of polyglucosans and in resolution of neurodegeneration and myoclonic epilepsy. This work discloses an entryway to treating this fatal epilepsy and potentially other glycogen storage diseases. |
