2016
Quantifying prion disease penetrance using large population control cohorts
Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O’Donnell-Luria A, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM, Consortium E, Daly MJ, MacArthur DG. Quantifying prion disease penetrance using large population control cohorts. Science Translational Medicine 2016, 8: 322ra9. PMID: 26791950, PMCID: PMC4774245, DOI: 10.1126/scitranslmed.aad5169.Peer-Reviewed Original ResearchConceptsPrion protein genePopulation control cohortPrion disease casesHealthy older individualsPrion protein expressionControl cohortLifetime riskTherapeutic suppressionDisease casesTruncating variantsDisease-causing genotypesOlder individualsBenign variantsDisease prevalenceProtein expressionDisease penetranceDiseaseMissense variantsPrion diseasesControl exomesDisease susceptibilityImpact of variantsGenetic variantsRiskPenetrance
2010
Effect of Trehalose on the Properties of Mutant γPKC, Which Causes Spinocerebellar Ataxia Type 14, in Neuronal Cell Lines and Cultured Purkinje Cells*
Seki T, Abe-Seki N, Kikawada T, Takahashi H, Yamamoto K, Adachi N, Tanaka S, Hide I, Saito N, Sakai N. Effect of Trehalose on the Properties of Mutant γPKC, Which Causes Spinocerebellar Ataxia Type 14, in Neuronal Cell Lines and Cultured Purkinje Cells*. Journal Of Biological Chemistry 2010, 285: 33252-33264. PMID: 20705605, PMCID: PMC2963337, DOI: 10.1074/jbc.m110.146704.Peer-Reviewed Original ResearchConceptsPrimary cultured Purkinje cellsApoptotic cell deathSH-SY5Y cellsNeuronal cell lineCell deathDevelopment of dendritesSH-SY5YSpinocerebellar ataxia type 14Autosomal dominant neurodegenerative diseaseCell linesDominant neurodegenerative diseaseModel of Huntington's diseaseSusceptible to aggregationAnimal models of Huntington's diseaseMissense mutationsPrion diseasesHuntington's diseaseProtein turnoverType 14Spinocerebellar ataxia typeDisaccharide trehaloseAlzheimer's diseaseNeurodegenerative diseasesCellular dysfunctionTrehalose
2009
Cellular prion protein mediates impairment of synaptic plasticity by amyloid-β oligomers
Laurén J, Gimbel DA, Nygaard HB, Gilbert JW, Strittmatter SM. Cellular prion protein mediates impairment of synaptic plasticity by amyloid-β oligomers. Nature 2009, 457: 1128-1132. PMID: 19242475, PMCID: PMC2748841, DOI: 10.1038/nature07761.Peer-Reviewed Original ResearchMeSH KeywordsAlzheimer DiseaseAmyloid beta-PeptidesAmyloid Precursor Protein SecretasesAmyloidosisAnimalsChlorocebus aethiopsCOS CellsHippocampusHumansLong-Term PotentiationMiceMice, Inbred C57BLNeuronal PlasticityNeuronsPeptide FragmentsPrionsProtein BindingProtein MultimerizationReceptors, Cell SurfaceSynapsesConceptsCellular prion protein PrPCPrion protein PrPCSoluble amyloid-β peptide (Aβ) oligomersAlzheimer's diseaseCellular prion proteinDisease pathologyPlasma membrane glycoproteinsCell surface receptorsHigh affinity cell surface receptorsAlzheimer's disease pathologySoluble Aβ oligomersLipid raftsInfectious prion diseasesUnexpected linkMechanistic basisMembrane glycoproteinsPrion proteinAmyloid-β peptide (Aβ) oligomersSynaptic plasticityPrion diseasesTherapeutic potentialDiseaseAβ oligomersCentral roleDeleterious effects
1995
Complete Penetrance of Creutzfeldt-Jakob Disease in Libyan Jews Carrying the E200K Mutation in the Prion Protein Gene
Spudich S, Mastrianni J, Wrensch M, Gabizon R, Meiner Z, Kahana I, Rosenmann H, Kahana E, Prusiner S. Complete Penetrance of Creutzfeldt-Jakob Disease in Libyan Jews Carrying the E200K Mutation in the Prion Protein Gene. Molecular Medicine 1995, 1: 607-613. PMID: 8529127, PMCID: PMC2229975, DOI: 10.1007/bf03401601.Peer-Reviewed Original Research
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