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PTG depletion removes lafora bodies and rescues the fatal epilepsy of lafora disease
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نویسنده
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turnbull j. ,depaoli-roach a.a. ,zhao x. ,cortez m.a. ,pencea n. ,tiberia e. ,piliguian m. ,roach p.j. ,wang p. ,ackerley c.a. ,minassian b.a.
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منبع
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plos genetics - 2011 - دوره : 7 - شماره : 4
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چکیده
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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. © 2011 turnbull et al.
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آدرس
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program in genetics and genome biology,the hospital for sick children,toronto,canada,department of molecular genetics,university of toronto,toronto, Canada, department of biochemistry and molecular biology,indiana university,indianapolis,in, United States, program in genetics and genome biology,the hospital for sick children,toronto, Canada, division of neurology,department of paediatrics,the hospital for sick children,toronto, Canada, program in genetics and genome biology,the hospital for sick children,toronto,canada,department of pathology and laboratory medicine,the hospital for sick children,toronto, Canada, program in genetics and genome biology,the hospital for sick children,toronto, Canada, program in genetics and genome biology,the hospital for sick children,toronto, Canada, department of biochemistry and molecular biology,indiana university,indianapolis,in, United States, program in genetics and genome biology,the hospital for sick children,toronto, Canada, department of pathology and laboratory medicine,the hospital for sick children,toronto, Canada, program in genetics and genome biology,the hospital for sick children,toronto,canada,division of neurology,department of paediatrics,the hospital for sick children,toronto, Canada
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Authors
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