PTG Depletion Removes Lafora Bodies and Rescues the Fatal Epilepsy of Lafora Disease 英文参考文献.docVIP

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PTG Depletion Removes Lafora Bodies and Rescues the Fatal Epilepsy of Lafora Disease 英文参考文献.doc

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PTG Depletion Removes Lafora Bodies and Rescues the Fatal Epilepsy of Lafora Disease 英文参考文献

PTGDepletionRemovesLaforaBodiesandRescuesthe FatalEpilepsyofLaforaDisease JulieTurnbull1,2,AnnaA.DePaoli-Roach3*,XiaochuZhao1,MiguelA.Cortez4,NelaPencea1,5 ,Erica Tiberia1,MarkPiliguian1,PeterJ.Roach3,PeixiangWang1,CameronA.Ackerley5,BergeA.Minassian1,4* 1PrograminGeneticsandGenomeBiology,TheHospitalforSickChildren,Toronto,Canada,2DepartmentofMolecularGenetics,UniversityofToronto,Toronto,Canada, 3Department of Biochemistry and Molecular Biology, Indiana University, Indianapolis, Indiana, United States of America, 4Division of Neurology, Department of Paediatrics,TheHospitalforSickChildren,Toronto,Canada,5DepartmentofPathologyandLaboratoryMedicine,TheHospitalforSickChildren,Toronto,Canada Abstract Laforadiseaseisthemostcommonteenage-onsetneurodegenerativedisease,themainteenage-onsetformofprogressive myoclonus epilepsy (PME), and one of the severest epilepsies. Pathologically, a starch-like compound, polyglucosan, accumulatesinneuronalcellbodiesandovertakesneuronalsmallprocesses,mainlydendrites.Polyglucosanformationis 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 myoclonicepilepsy.Thisworkdisclosesanentrywaytotreatingthisfatalepilepsyandpotentiallyotherglycogenstorage diseases. Citation:TurnbullJ,DePaoli-RoachAA,ZhaoX,CortezMA,PenceaN,etal.(2011)PTGDepletionRemovesLaforaBodiesandRescuestheFatalEpilepsyofLafora Disease.PLoSGenet7(4):e1002037.doi:10.1371/journal.pgen.1002037 Editor:WayneN.Frankel,TheJacksonLaboratory,UnitedStatesofAmerica ReceivedDecember2,2010;AcceptedFebruary11,2011;PublishedApril28,2011 Copyright: ? 2011 Turnbull et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricteduse,distribution,