References
- BrownKMastrianniJAThe prion diseasesJ Geriatr Psychiatry Neurol20102327729820938044
- ImranMMahmoodSAn overview of animal prion diseasesVirol J2011849322044871
- KüblerEOeschBRaeberAJDiagnosis of prion diseasesBr Med Bull20036626727914522864
- PuckettCConcannonPCaseyCHoodLGenomic structure of the human prion protein geneAm J Hum Genet1991493203291678248
- MaJLindquistSWild-type PrP and a mutant associated with prion disease are subject to retrograde transport and proteasome degradationPNAS200198149551496011742063
- SteinertJRPrion protein as a mediator of synaptic transmissionCommun Integr Biol20158e106375326478992
- ShenLJiHFMutation directional selection sheds light on prion pathogenesisBiochem Biophys Res Commun201141015916321679685
- RoucouXGainsMLeBlancACNeuroprotective functions of prion proteinJ Neurosci Res20047515316114705136
- WulfMASenatoreAAguzziAThe biological function of the cellular prion protein: an updateBMC Biol2017153428464931
- CastleARGillACPhysiological functions of the cellular prion proteinFront Mol Biosci201741928428956
- van RheedeTvan RheedeTSmolenaarsMMMadsenOde JongWWMolecular evolution of the mammalian prion proteinMol Biol Evol20032011112519913
- LloydSMeadSCollingeJGenetics of prion diseaseTop Curr Chem201130512221528440
- MackenzieGWillRCreutzfeldt-Jakob disease: recent developmentsF1000Res20176205329225787
- ChasseigneauxSHaikSLaffont-ProustIV180I mutation of the prion protein gene associated with atypical PrPSc glycosylationNeurosci Lett200640816516917029785
- IwasakiYIwasakiYMoriKAn autopsied case of V180I Creutzfeldt-Jakob disease presenting with panencephalopathic-type pathology and a characteristic prion protein typeNeuropathology20113154054821269331
- NixonRCamicioliRJamisonKCervenakovaLMastrianniJAThe PRNP-V180I mutation is associated with abnormally glycosylated PrPCJD and Intracellular PrP accumulations. Presented at XIVth International Congress of Neuropathology Scientific ProgrammeBrain Pathol200010670
- YangTIJungDSAhnBYFamilial Creutzfeldt-Jakob disease with V180I mutationJ Korean Med Sci2010251097110020592908
- MutsukuraKSatohKShirabeSFamilial Creutzfeldt-Jakob disease with a V180I mutation: comparative analysis with pathological findings and diffusion-weighted imagesDement Geriatr Cogn Disord20092855055720051687
- JinKShigaYShibuyaSClinical features of Creutzfeldt-Jakob disease with V180I mutationNeurology20046250255514872044
- ShiQShenXJZhouWRare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob diseasePrion2014841144425482600
- van der KampMWDaggettVPathogenic mutations in the hydrophobic core of the human prion protein can promote structural instability and misfoldingJ Mol Biol201040473274820932979
- BeckJCollingeJMeadSPrion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutationBrain2012135Pt 2e20922108575
- FinckhUMüller-ThomsenTMannUHigh prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genesAm J Hum Genet20006611011710631141
- RoeberSGrasbon-FrodlEMWindlOEvidence for a pathogenic role of different mutations at codon 188 of PRNPPLoS One200835e214718478114
- ShiQGaoCZhouWHuman prion disease with a T188K mutation in Chinese: a case reportCases J20092782019830016
- ChenCShiQZhouWClinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt-Jakob diseaseInfect Genet Evol20131412012423261545
- GuoJNingLRenHLiuHYaoXInfluence of the pathogenic mutations T188K/R/A on the structural stability and misfolding of human prion protein: insight from molecular dynamics simulationsBiochim Biophys Acta2012182011612322155634
- TartagliaMCThaiJNSeeTPathologic evidence that the T188R mutation in PRNP is associated with prion diseaseJ Neuropathol Exp Neurol2010691220122721107135
- CollinsSBoydAFletcherANovel prion protein gene mutation in an octogenarian with Creutzfeldt-Jakob diseaseArch Neurol2000571058106310891990
- Peoc’hKManivetPBeaudryPIdentification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotypeHum Mutat200015482
- TumaniHWindlOKretzschmarHALudolphACClinically atypical CJD: diagnostic relevance of cerebrospinal fluid markers and molecular genetic analysis?Dtsch Med Wochenschr200212731832011845387
- ClericiFEliaAGirottiFAtypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP geneJ Neurol Sci200827514514718706660
- BéjotYOssebyGVCaillierMMoreauTLaplancheJLGiroudMRare E196K mutation in the PRNP gene of a patient exhibiting behavioral abnormalitiesClin Neurol Neurosurg201011224424720005032
- EigenbrodSFrickPGieseASchelzkeGZerrIKretzschmarHAComprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneityJ Neuropathol Exp Neurol20117019220021293298
- SchelzkeGEigenbrodSRomeroCGenetic prion disease with codon 196 PRNP mutation: clinical and pathological findingsNeurobiol Aging201132756.e1756.e9
- ShiQChenCSongXNA Chinese Creutzfeldt-Jakob disease patient with E196K mutation in PRNPPrion2011511712021597335
- HadžiSOndračkaAJeralaRPathological mutations H187R and E196K facilitate subdomain separation and prion protein conversion by destabilization of the native structureFASEB J20152988289325416551
- ShiQZhouWChenCRare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob diseasePrion20161033133727310471
- AntoineJCLaplancheJLMosnierJFBeaudryPChatelainJMichelDDemyelinating peripheral neuropathy with Creutzfeldt-Jakob disease and mutation at codon 200 of the prion protein geneNeurology199646112311278780103
- JeongBHJuWKHuhKMolecular analysis of prion protein gene (PRNP) in Korean patients with Creutzfeldt-Jakob diseaseJ Korean Med Sci1998132342409681800
- ChapmanJBrownPGoldfarbLGArlazoroffAGajdusekDCKorczynADClinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutationJ Neurol Neurosurg Psychiatry199356110911128105028
- KorczynADCreutzfeldt-Jakob disease among Libyan JewsEur J Epidemiol199174904931761106
- KimMOCaliIOehlerAGenetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation casesActa Neuropathol Commun201318024330864
- ZhangYSwietnickiWZagorskiMGSurewiczWKSönnichsenFDSolution structure of the E200K variant of human prion protein. Implications for the mechanism of pathogenesis in familial prion diseasesJ Biol Chem2000275336503365410954699
- KovacsGGMolnárKKellerEBotondGBudkaHLászlóLIntraneuronal immunoreactivity for the prion protein distinguishes a subset of E200K genetic from sporadic Creutzfeldt-Jakob diseaseJ Neuropathol Exp Neurol20127122323222318125
- KimMOCaliIOehlerAGenetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation casesActa Neuropathol Commun201318024330864
- JeongBHJeonYCLeeYJCreutzfeldt-Jakob disease with the V203I mutation and M129V polymorphism of the prion protein gene (PRNP) and a 17 kDa prion protein fragmentNeuropathol Appl Neurobiol20103655856320497338
- ShiQChenCWangXJRare V203I mutation in the PRNP gene of a Chinese patient with Creutzfeldt-Jakob diseasePrion2013725926223764840
- KomatsuJSakaiKHamaguchiTSugiyamaYIwasaKYamadaMCreutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein genePrion2014833633825495585
- van der KampMWDaggettVPathogenic mutations in the hydrophobic core of the human prion protein can promote structural instability and misfoldingJ Mol Biol201040473274820932979
- MastrianniJAIannicolaCMyersRMDeArmondSPrusinerSBMutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob diseaseNeurology199647130513128909447
- MitrovaEBelayGZakovaDSterlzerMThe first case of genetic Creutzfeldt-Jakob disease with the rare mutation R208H, methionine/valine heterozygous at codon 129 of the prion protein geneClin Med J20151101105
- RoeberSKrebsBNeumannMCreutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragmentActa Neuropathol200510944344815739100
- Basset-LeobonCUro-CosteEPeoc’hKFamilial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaquesArch Neurol20066344945216533975
- MatějRKovacsGGJohanidesováSGenetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsyMov Disord20122747647922488860
- VitaMGGaudinoSDi GiudaDR208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob diseaseJ Neurol20132602650265223979103
- ChenCShiQTianCThe first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNPPrion2011523223421791975
- BamdadKNaderi-ManeshHContribution of a putative salt bridge and backbone dynamics in the structural instability of human prion protein upon R208H mutationBiochem Biophys Res Commun200736471972417980350
- RipollLLaplancheJLSalzmannMA new point mutation in the prion protein gene at codon 210 in Creutzfeldt-Jakob diseaseNeurology199343193419388105421
- PocchiariMSalvatoreMCutruzzoláFA new point mutation of the prion protein gene in Creutzfeldt-Jakob diseaseAnn Neurol1993348028077902693
- FurakawaHKitamotoTHashiguchiHTateishiJA Japanese case of Creutzfeldt-Jakob disease with a point mutation in the prion protein gene at codon 210J Neurol Sci19961411201228880705
- ShyuWHsuYKaoMTsaoWPanencephalitic Creutzfeldt-Jakob disease in a Chinese family: unusual presentation with PrP codon 210 mutation and identification by PCR-SSCPJ Neurol Sci19961431761808981320
- TajimaYSatohCMitoYKitamotoTCreutzfeldt-Jakob disease with a codon 210 mutation: first pathological observation in a Japanese patientIntern Med20145348348724583440
- ImbrianiPMarfiaGAMarcianiMGHeidenhain variant in two patients with inherited V210I Creutzfeldt-Jakob diseaseInt J Neurosci201612638138326268049
- BiljanIIlcGGiachinGToward the molecular basis of inherited prion diseases: NMR structure of the human prion protein with V210I mutationJ Mol Biol201141266067321839748
- LadoganaARAlmontiSPetraroliRMutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob diseaseAm J Med Genet200110313313711568919
- Peoc’hKLevavasseurEDelmontESubstitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disordersHum Mol Genet2012215417542822965875
- Muñoz-NietoMRamonetNLópez-GastónJIA novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer’s diseases in three patients with divergent clinical phenotypesJ Neurol2013260778422763467
- NishimotoYSItoDSuzukiSShimizuTKitamotoTSuzukiNSlow-progressive ataxia with a methionine-to-arginine point mutation in codon 232 in the prion protein gene (PRNP)Clin Neurol Neurosurg201111369669821620563
- ChoiBYKimSYSeoSYMutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patientsBMC Infect Dis2009913219698114
- KonTMikiYAraiACreutzfeldt-Jakob disease with homozygous M232R mutation: A case reportJ Neurol Sci20153521–210810925818675
- ShigaYSatohKKitamotoTTwo different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitutionJ Neurol20072541509151717965961
- KoideTOhtakeHNakajimaTA patient with dementia with Lewy bodies and codon 232 mutation of PRNPNeurology2002591619162112451207
- ShimizuHYamadaMMatsubaraNCreutzfeldt–Jakob disease with an M232R substitution: report of a patient showing slowly progressive disease with abundant plaque-like PrP deposits in the cerebellumNeuropathology20092973574319422537
- GuizzuntiGZurzoloCThe fate of PrP GPI-anchor signal peptide is modulated by P238S pathogenic mutationTraffic201415789324112521
- GuYSinghABoseSSinghNPathogenic mutations in the glycosylphosphatidylinositol signal peptide of PrP modulate its topology in neuroblastoma cellsMol Cell Neurosci20083764765618325785
- BeckJAMeadSCampbellTATwo-octapeptide repeat deletion of prion protein associated with rapidly progressive dementiaNeurology20015735435611468331
- CapellariSParchiPWolffBDCreutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein geneNeurology2002591628163012451210
- MooreRAHerzogCErrettJOctapeptide repeat insertions increase the rate of protease-resistant prion protein formationProtein Sci20061560961916452616
- PetersenRBParchiPRichardsonSLUrigCBGambettiPEffect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion proteinJ Biol Chem199627112661126688647879
- MarconGIndacoADi FedeGPanencephalopathic Creutzfeldt-Jakob disease with distinct pattern of prion protein deposition in a patient with D178N mutation and homozygosity for valine at codon 129 of the prion protein geneBrain Pathol20142414815124118545
- MeadSJoinerSDesbruslaisMCreutzfeldt-Jakob disease, prion protein gene codon 129VV, and a novel PrPSc type in a young British womanArch Neurol2007641780178418071044
- HarderAGregorAWirthTEarly age of onset in fatal familial insomnia. Two novel cases and review of the literatureJ Neurol200425171572415311348
- LugaresiEMedoriRMontagnaPFatal familial insomnia and dysautonomia with selective degeneration of thalamic nucleiN Engl J Med198631599710033762620
- GoldfarbLGPetersenRBTabatonMFatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphismScience19922588068081439789
- ChoiBYKimSYSeoSYMutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patientsBMC Infect Dis2009913219698114
- SwietnickiWPetersenRBGambettiPSurewiczWKFamilial mutations and the thermodynamic stability of the recombinant human prion proteinJ Biol Chem199827331048310529813003
- HsiaoKDlouhySRFarlowMRMutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tanglesNat Genet1992168711363810
- ParkMJJoHYCheonSMChoiSSKimYSKimJWA case of Gerstmann-Sträussler-Scheinker diseaseJ Clin Neurol20106465020386644
- ChiNFLeeYCLuYCWuHMSoongBWTransmissible spongiform encephalopathies with P102L mutation of PRNP manifesting different phenotypes: clinical, neuroimaging, and electrophysiological studies in Chinese kindred in TaiwanJ Neurol201025719119719696976
- TakazawaTIkedaKItoHA distinct phenotype of leg hyper-reflexia in a Japanese family with Gerstmann-Sträussler-Scheinker syndrome (P102L)Intern Med20104933934220154442
- KitamotoTIizukaRTateishiJAn amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaquesBiochem Biophys Res Commun19931925255318097911
- WadsworthJDJoinerSLinehanJMPhenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and mutant prion proteinBrain20061291557156916597650
- HsiaoKBakerHFCrowTJLinkage of a prion protein missense variant to Germann-Sträsler syndromeNature19893383423452564168
- KovácsGGTrabattoniGHainfellnerJAIronsideJWKnightRSBudkaHMutations of the prion protein gene phenotypic spectrumJ Neurol20022491567158212420099
- KrausARaymondGJRaceBPrP P102L and nearby lysine mutations promote spontaneous in vitro formation of transmissible prionsJ Virol201791e012761728835493
- KrausAAnsonKJRaymondLDPrion protein prolines 102 and 105 and the surrounding lysine cluster impede amyloid formationJ Biol Chem2015290215102152226175152
- GrovemanBRKrausARaymondLDCharge neutralization of the central lysine cluster in prion protein (PrP) promotes PrP(Sc)-like folding of recombinant PrP amyloidsJ Biol Chem20152901119112825416779
- KitamotoYAmanoNTeraoYA new inherited prion disease (PrP-P105L mutation) showing spastic paraparesisAnn Neurol1993348088138250529
- ItohYYamadaMHayakawaMA variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological studyJ Neurol Sci199412777867699395
- KuboMNishimuraTShikataEKokubunYTakasuTA case of variant Gerstmann-Sträussler-Scheinker disease with the mutation of codon P105LRinsho Shinkeigaku1995358738778665729
- YamadaMItohYInabaAAn inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneityNeurology19995318118810408557
- IwasakiYKizawaMHoriNKitamotoTSobueGA case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesisClin Neurol Neurosurg200911160666019443103
- MallucciGRCampbellTADickinsonAInherited prion disease with an alanine to valine mutation at codon 117 in the prion protein geneBrain19991221823183710506086
- TranchantCSergeantNWattezAMohrMWarterJMDelacourteANeurofibrillary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutationJ Neurol Neurosurg Psychiatry1997632402469285466
- MastrianniJACurtisMTOberholtzerJCPrion disease (PrP-A117V) presenting with ataxia instead of dementiaNeurology199545204220507501157
- AsanteEALinehanJMSmidakMInherited prion disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion proteinPLoS Pathog20139e100364324086135
- PirisinuLDi BariMAD’AgostinoCGerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseasesSci Rep201662044326841849
- NonnoRAngelo Di BariMAgrimiUPirisinuLTransmissibility of Gerstmann-Sträussler-Scheinker syndrome in rodent models: New insights into the molecular underpinnings of prion infectivityPrion20161042143327892798
- PanegyresPKToufexisKKakulasBAA new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker diseaseArch Neurol2001581899190211709001
- JansenCParchiPCapellariSA second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patientJ Neuropathol Exp Neurol20117069870221760536
- LundbergPMagzoubMLindbergMCell membrane trans-location of the N-terminal (1-28) part of the prion proteinBiochem Biophys Res Commun2002299859012435392
- SimpsonMJohanssenVBoydAUnusual clinical and molecular-pathological profile of gerstmann-Sträussler-Scheinker disease associated with a novel PRNP mutation (V176G)JAMA Neurol2013701180118523857164
- CervenákováLBuetefischCLeeHSNovel PRNP sequence variant associated with familial encephalopathyAm J Med Genet19998865365610581485
- BütefischCMGambettiPCervenakovaLParkKYHallettMGoldfarbLGInherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical studyNeurology20005551752210953183
- ColucciMMoleresFJXieZLGerstmann-Sträussler-Scheinker: a new phenotype with “curly” PrP depositsJ Neuropathol Exp Neurol20066564265116825951
- HosszuLLTattumMHJonesSThe H187R mutation of the human prion protein induces conversion of recombinant prion protein to the PrP(Sc)-like formBiochemistry2010498729873820718410
- ZhongLExposure of hydrophobic core in human prion protein pathogenic mutant H187RJ Biomol Struct Dyn20102835536120919751
- UflackerADoraiswamyPMRechitskySSeeTGeschwindMTur-KaspaIPreimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP geneJAMA Neurol20147148448624493558
- UnverzagtFWFarlowMRNortonJDlouhySRYoungKGhettiBNeuropsychological function in patients with Gerstmann-Sträussler-Scheinker disease from the Indiana kindred (F198S)J Int Neuropsychol Soc199731691789126858
- PiccardoPLiepnieksJJWilliamAPrion proteins with different conformations accumulate in Gerstmann-Sträussler-Scheinker disease caused by A117V and F198S mutationsAm J Pathol20011582201220711395398
- ZaidiSIRichardsonSLCapellariSCharacterization of the F198S prion protein mutation: enhanced glycosylation and defective refoldingJ Alzheimers Dis2005715917115851854
- PlateABenninghoffJJansenGHAtypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed caseMov Disord20132824124423436635
- GalloMPaludiDCiceroDOIdentification of a conserved N-capping box important for the structural autonomy of the prion alpha 3-helix: the disease associated D202N mutation destabilizes the helical conformationInt J Immunopathol Pharmacol2005189511215698515
- GuYVergheseSBoseSMohanMSinghNMutant prion protein D202N associated with familial prion disease is retained in the endoplasmic reticulum and forms “curly” intracellular aggregatesJ Mol Neurosci200732909617873292
- PiccardoPDlouhySRLievensPMPhenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneityJ Neuropathol Exp Neurol1998579799889786248
- IlcGGiachinGJaremkoMNMR structure of the human prion protein with the pathological Q212P mutation reveals unique structural featuresPLoS One20105e1171520661422
- WoulfeJKerteszAFrohnIBauerSGeorge-HyslopPSBergeronCGerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementiaActa Neuropathol200511031731916025285
- BratosiewiczJBarcikowskaMCervenakowaLBrownPGajdusekDCLiberskiPPA new point mutation of the PRNP gene in Gerstmann-Sträussler-Scheinker case in PolandFolia Neuropathol20003816416611693719
- ZhengLLongfeiJJingYPRNP mutations in a series of apparently sporadic neurodegenerative dementias in ChinaAm J Med Genet B Neuropsychiatr Genet2008147B93894418425766
- KudoWLeeHPZouWQCellular prion protein is essential for oligomeric amyloid-β-induced neuronal cell deathHum Mol Genet2012211138114422100763
- ZhangWJiaoBXiaoTMutational analysis of PRNP in Alzheimer’s disease and frontotemporal dementia in ChinaSci Rep201663843527910931
- LundbergPMagzoubMLindbergMCell membrane trans-location of the N-terminal (1-28) part of the prion proteinBiochem Biophys Res Commun2002299859012435392
- BernardiLCupidiCBruniACPathogenic mechanisms of the prion protein gene mutations: a review and speculative hypotheses for pathogenic potential of the Pro39Leu mutation in the associated FTD-like phenotypeJ Neurol Neurosci20178208
- OldoniEFumagalliGGSerpenteMPRNP P39L variant is a rare cause of frontotemporal dementia in Italian populationJ Alzheimers Dis20165035335726757195
- BernardiLCupidiCFrangipaneFNovel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndromeNeurobiol Aging2014352657.e72657.e11
- RodriguezMMA novel mutation (G114V) in the prion protein gene in a family with inherited prion diseaseNeurology2005641455145715851745
- YeJHanJShiQHuman prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case seriesJ Med Case Rep2008233118925969
- KitamotoTIizukaRTateishiJAn amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaquesBiochem Biophys Res Commun19931925255318097911
- GhettiBPiccardoPSpillantiniMGVascular variant of prion protein cerebral amyloidosis with t-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNPProc Natl Acad Sci U S A1996937447488570627
- AbdallahAWangPRichtJASreevatsanSY145Stop is sufficient to induce de novo generation prions using protein misfolding cyclic amplificationPrion20126818822453182
- JayadevSNochlinDPoorkajPFamilial prion disease with Alzheimer disease-like tau pathology and clinical phenotypeAnn Neurol201169471272021416485
- GuerreiroRBrásJWojtasARademakersRHardyJGraff-RadfordNA nonsense mutation in PRNP associated with clinical Alzheimer’s diseaseNeurobiol Aging2014352656.e132656.e16
- FongJCRojasJCBangJGenetic prion disease caused by PRNP Q160X mutation presenting with an orbitofrontal syndrome, cyclic diarrhea, and peripheral neuropathyJ Alzheimers Dis20175524925827716661
- MeadSGandhiSBeckJA novel prion disease associated with diarrhea and autonomic neuropathyN Engl J Med20133691904191424224623
- MatsuzonoKIkedaYLiuWA novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairmentEur J Neurol201320e67e6923577609
- NitriniRRosembergSPassos-BuenoMRFamilial spongiform encephalopathy associated with a novel prion protein gene mutationAnn Neurol1997421381469266722
- Grasbon-FrodlELorenzHMannUNitschRMWindlOKretzschmarHALoss of glycosylation associated with the T183A mutation in human prion diseaseActa Neuropathol200410847648415558291
- ChebaroYDerreumauxPThe conversion of helix H2 to beta-sheet is accelerated in the monomer and dimer of the prion protein upon T183A mutationJ Phys Chem B20091136942694819371053
- KovačVČurin ŠerbecVPrion proteins without the glycophosphatidylinositol anchor: potential biomarkers in neurodegenerative diseasesBiomark Insights201813 1177271918756648
- JansenCParchiPCapellariSPrion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNPActa Neuropathol201011918919719911184
- KovačVZupančičBIlcGPlavecJČurin ŠerbecVTruncated prion protein PrP226* – A structural view on its role in amyloid diseaseBiochem Biophys Res Commun2017484455028109886
- Erginel-UnaltunaNPeoc’hKKomurcuEAcunerTTIsseverHLaplancheJLDistribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob diseaseEur J Hum Genet20119965968
- MeadSWhitfieldJPoulterMA novel protective prion protein variant that colocalizes with kuru exposureN Engl J Med20093612056206519923577
- KaskiDMeadSHyareHVariant CJD in an individual heterozygous for PRNP codon 129Lancet200923742128
- JeongBHLeeKHLeeYJLack of association between PRNP 1368 polymorphism and Alzheimer’s disease or vascular dementiaBMC Med Genet2009103219351416
- AhnKKimEKwonYAKimDKLeeJEJoSANo association of prion protein gene polymorphisms with Alzheimer’s disease in Korean populationExp Mol Med20063872773117202849
- JeongBHNaHRBaeJCAbsence of association between codon 129 and 219 polymorphisms of the prion protein gene and vascular dementiaDement Geriatr Cogn Disord200724869017570906
- HeadMWLowrieSChohanGKnightRScoonesDJIronsideJWVariably protease-sensitive prionopathy in a PRNP codon 129 heterozygous UK patient with co-existing tau, α synuclein and Aβ pathologyActa Neuropathol2008120821823
- GambettiPDongZYuanJA novel human disease with abnormal prion protein sensitive to proteaseAnn Neurol20086369770818571782
- Rodríguez-MartínezABGarridoJMZarranzJJA novel form of human disease with a protease-sensitive prion protein and heterozygosity methionine/valine at codon 129: case reportBMC Neurol2010109920973975
- ZouWQPuotiGXiaoXVariably protease-sensitive prionopathy: a new sporadic disease of the prion proteinAnn Neurol20106816217220695009
- ShibaoCGarlandEMGamboaAPRNP M129V homozygosity in multiple system atrophy vs. Parkinson’s diseaseClin Auton Res200818131918236005
- ShibuyaSHiguchiJShinRWTateishiJKitamotoTProtective prion protein polymorphisms against sporadic Creutzfeldt-Jakob diseaseLancet1998351419
- ShibuyaSHiguchiJShinRWTateishiJKitamotoTCodon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob diseaseAnn Neurol1998438268289629853
- JeongBHLeeKHKimNHAssociation of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean populationNeurogenetics2005622923216217673
- LukicABeckJJoinerSHeterozygosity at polymorphic codon 219 in variant Creutzfeldt-Jakob diseaseArch Neurol2010671021102320697057
- Ch’ngGSAnSSBaeSOBagyinszkyEKimSYIdentification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian familyNeuropsychiatr Dis Treat2015112315232226396515
- AsanteEASmidakMGrimshawAA naturally occurring variant of the human prion protein completely prevents prion diseaseNature201552247848126061765
- BishopMTPenningtonCHeathCAWillRGKnightRSGPRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphismBMC Med Genet20091014620035629
- BeckJAPoulterMCampbellTAPRNP allelic series from 19 years of prion protein gene sequencing at the MRC prion unitHum Mutat201031E1551E156320583301
- WalzRCastroRMVelascoTRSurgical outcome in mesial temporal sclerosis correlates with prion protein gene variantNeurology2003611204121014610121
- CoimbraERRezekKEscorsi-RossetSCognitive performance of patients with mesial temporal lobe epilepsy is not associated with human prion protein gene variant allele at codons 129 and 171Epilepsy Behav2006863564216580884
- WindlOGieseASchulz-SchaefferWMolecular genetics of human prion diseases in GermanyHum Genet199910524425210987652
- KüblerEOeschBRaeberAJDiagnosis of prion diseasesBr Med Bull20036626727914522864
- JacksonGSMeadSCollingeJDeveloping early diagnostics for prion diseasesNeurodegener Dis Manag201335360
- Letourneau-GuillonLWadaRKucharczykWImaging of prion diseasesJ Magn Reson Imaging201235998101222499277
- ShimadaTFournierAEYamagataKNeuroprotective function of 14-3-3 proteins in neurodegenerationBiomed Res Int2013201356453424364034
- MacfarlaneRGWroeSJCollingeJYousryTAJägerHRNeuroimaging findings in human prion diseaseJ Neurol Neurosurg Psychiatry20077866417135459
- ZerrIPoserSClinical diagnosis and differential diagnosis of CJD and vCJD. With special emphasis on laboratory testsAPMIS2002110889812064260
- WoodHCerebrospinal fluid tau levels – a potential diagnostic biomarker for Creutzfeldt–Jakob diseaseNeuropsychiatr Dis Treat2015112315232226396515
- SkinningsrudAStensetVGundersenASFladbyTCerebrospinal fluid markers in Creutzfeldt-Jakob diseaseCerebrospinal Fluid Res200851418727840
- HamlinCPuotiGBerriSA comparison of tau and 14-3-3 protein in the diagnosis of Creutzfeldt-Jakob diseaseNeurology20127954755222843257
- NozakiTHamaguchiTSanjoNProspective 10-year surveillance of human prion diseases in JapanBrain20101333043305720855418
- KnightRThe Diagnosis of Prion DiseasesCambridgeCambridge University Press1999311
- ZerrIKallenbergKSummersDMUpdated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob diseaseBrain2009132Pt 102659266819773352
- ManixMKalakotiPHenryMCreutzfeldt-Jakob disease: updated diagnostic criteria, treatment algorithm, and the utility of brain biopsyNeurosurg Focus201539E2
- MastrianniJAGenetic Prion DiseasesGeneReviews2014 Available from: http://www.ncbi.nlm.nih.gov/books/NBK1229/Accessed July 25, 2018
- ForloniGTettamantiMLuccaUPreventive study in subjects at risk of fatal familial insomnia: innovative approach to rare diseasesPrion20159757925996399
- GlatzelMStoeckKSeegerHLührsTAguzziAHuman prion diseases: molecular and clinical aspectsArch Neurol20056254555215824251
- CollingeJPalmerMSPrion diseases in humans and their relevance to other neurodegenerative diseasesDementia199341781858401789
- KangMKimSYAnSSJuYRCharacterizing affinity epitopes between prion protein and β-amyloid using an epitope mapping immunoassayExp Mol Med201345e3423907583
- MinikelEVVallabhSMLekMQuantifying prion disease penetrance using large population control cohortsSci Transl Med20168322ra9
- MaddoxRABlaséJLMercaldoNDClinically unsuspected prion disease among patients with dementia diagnoses in an Alzheimer’s disease databaseAm J Alzheimers Dis Other Dement201530752755
- DupiereuxIZorziWQuadrioICreutzfeldt-Jakob, Parkinson, Lewy body dementia and Alzheimer diseases: from diagnosis to therapyCent Nerv Syst Agents Med Chem2009921120021333
- GeldmacherDSWhitehousePJDifferential diagnosis of Alzheimer’s diseaseNeurology199748299008484
- ManuelidisEEManuelidisLSuggested links between different types of dementias: Creutzfeldt-Jakob disease, Alzheimer disease, and retro-viral CNS infectionsAlzheimer Dis Assoc Disord198931001102545230
- GiauVVAnSSBagyinszkyEKimSYGene panels and primers for next generation sequencing studies on neurodegenerative disordersMol Cell Toxicol20151189143