2013
Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy
Paavola J, Schliffke S, Rossetti S, Kuo I, Yuan S, Sun Z, Harris PC, Torres VE, Ehrlich BE. Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy. Journal Of Molecular And Cellular Cardiology 2013, 58: 199-208. PMID: 23376035, PMCID: PMC3636149, DOI: 10.1016/j.yjmcc.2013.01.015.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseHeart failureCalcium cyclingCardiac functionProteins polycystin-1Low cardiac outputHuman autosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseImpaired calcium cyclingIntracellular calcium cyclingCause of mortalityIntracellular calcium signalingPolycystic kidney diseasePolycystin-2Intracellular calcium channelsAtrioventricular blockCardiac outputKidney diseaseADPKD patientsCardiovascular diseaseRenal epithelial cellsCalcium channelsDilated CardiomyopathyPKD2 mutationsEpithelial cells
2004
Deficiency of polycystin‐2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells
Aguiari G, Banzi M, Gessi S, Cai Y, Zeggio E, Manzati E, Piva R, Lambertini E, Ferrari L, Peters DJ, Lanza F, Harris PC, Borea PA, Somlo S, del Senno L. Deficiency of polycystin‐2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells. The FASEB Journal 2004, 18: 884-886. PMID: 15001556, DOI: 10.1096/fj.03-0687fje.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SubstitutionB-LymphocytesCalciumCalcium SignalingCell DivisionCell Line, TransformedCodon, NonsenseEndoplasmic ReticulumGentamicinsHumansIon TransportKidneyMembrane ProteinsMutation, MissenseOrgan SpecificityPlatelet Activating FactorPoint MutationPolycystic Kidney, Autosomal DominantProteinsRNA, MessengerSuppression, GeneticTRPP Cation ChannelsConceptsPlatelet-activating factorAutosomal dominant polycystic kidney disease patientsPolycystic kidney disease patientsKidney disease patientsCell proliferationPolycystin-2B lymphoblastoid cellsDisease patientsADPKD patientsB-LCLIntracellular Ca2PKD2 mutationsPC2 levelsKidney epitheliumPatientsChannel activityLymphoblastoid cellsAminoglycoside antibioticsKidney cellsImportant regulatorHEK293 cellsPKD2 geneFunction activityCa2PKD genes
1999
The rat Pkd2 protein assumes distinct subcellular distributions in different organs
Obermüller N, Gallagher A, Cai Y, Gassler N, Gretz N, Somlo S, Witzgall R. The rat Pkd2 protein assumes distinct subcellular distributions in different organs. American Journal Of Physiology 1999, 277: f914-f925. PMID: 10600939, DOI: 10.1152/ajprenal.1999.277.6.f914.Peer-Reviewed Original ResearchConceptsPKD2 proteinDifferent cellular compartmentsDistinct subcellular distributionCellular compartmentsBasolateral distributionExpression patternsCytoplasmic locationSubcellular distributionPKD2 geneWidespread expressionCellular distributionAdrenal glandProteinSmooth muscle cellsSalivary glandsMuscle cellsPKD2Autosomal dominant polycystic kidney diseasePolycystic kidney diseaseDifferent organsRenal distal tubulesMutationsIndividual organsDifferent rat organsPKD2 mutations
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