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Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, diabetes and cancer may implicate NNAT-aggregates as a common downstream participant in neuronal loss

机译:Neuronatin基因:印记和错误折叠:Lafora疾病,糖尿病和癌症研究可能暗示NNAT聚集体是神经元丢失的常见下游参与者

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emNeuronatin(NNAT)/emisaubiquitousandhighlyconservedmammaliangeneinvolvedinbraindevelopment.ItsmRNAisoforms,chromosomallocation,genomicDNAstructureandregulationhavebeencharacterized.Morerecentlytherehasbeenrapidprogressintheunderstandingofitsfunctioninphysiologyandhumandisease.Inparticularthereisfairlydirectevidenceimplicatingemneuronatin/eminthecausationofLaforadiseaseanddiabetes.emNeuronatin/emproteinhasastrongpredispositiontomisfoldandformcellularaggregatesthatcausecelldeathbyapoptosis.AggregationofemNeuronatin/emwithincorticalneuronsandresultingcelldeathisthehallmarkofLaforadisease,aprogressiveandfatalneurodegenerativedisease.Underhighglucoseconditionssimulatingdiabetes,emneuronatin/emproteinalsoaccumulatesanddestroyspancreaticbetacells./ppid="sp0010"Theemneuronatin/emgeneisimprintedandonlythepaternalalleleisnormallyexpressedintheadult.However,changesinDNAmethylationmaycausethematernalalleletoloseimprintingandtriggercellproliferationandmetastasis.emNeuronatin/emhasalsobeenshowntobetranslatedperipherallywithinthedendritesofneurons,afindingofrelevanceinsynapticplasticity.Thecurrentunderstandingofthefunctionofemneuronatin/emraisesthepossibilitythatthisgenemayparticipateinthecommondownstreammechanismsassociatedwithaberrantneuronalgrowthanddeath.AbetterunderstandingofthesemechanismsmayopennewtherapeutictargetstohelpmodifytheprogressionofdevastatingneurodegenerativeconditionssuchasAlzheimer'sandanteriorhorncelldisease./p/div
机译: Neuronatin(NNAT) isaubiquitousandhighlyconservedmammaliangeneinvolvedinbraindevelopment.ItsmRNAisoforms,染色体分配,genomicDNAstructureandregulationhavebeencharacterized.Morerecentlytherehasbeenrapidprogressintheunderstandingofitsfunctioninphysiologyandhumandisease.Inparticularthereisfairlydirectevidenceimplicating neuronatin inthecausationofLaforadiseaseanddiabetes。 Neuronatin proteinhasastrongpredispositiontomisfoldandformcellularaggregatesthatcausecelldeathbyapoptosis.Aggregationof Neuronatin withincorticalneuronsandresultingcelldeathisthehallmarkofLaforadisease,aprogressiveandfatalneurodegenerativedisease.Underhighglucoseconditionssimulatingdiabetes, neuronatin proteinalsoaccumulatesanddestroyspancreaticbetacells。 neuronatin geneisimprintedandonlythepaternalalleleisnormallyexpressedintheadult.However,changesinDNAmethylationmaycausethematernalalleletoloseimprintingandtriggercellproliferationandmetastasis。新ronatin hasalsobeenshowntobetranslatedperipherallywithinthedendritesofneurons,afindingofrelevanceinsynapticplasticity.Thecurrentunderstandingofthefunctionof neuronatin raisesthepossibilitythatthisgenemayparticipateinthecommondownstreammechanismsassociatedwithaberrantneuronalgrowthanddeath.AbetterunderstandingofthesemechanismsmayopennewtherapeutictargetstohelpmodifytheprogressionofdevastatingneurodegenerativeconditionssuchasAlzheimer'sandanteriorhorncelldisease。

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