2006
Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6
Jiang Z, Asplin JR, Evan AP, Rajendran VM, Velazquez H, Nottoli TP, Binder HJ, Aronson PS. Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6. Nature Genetics 2006, 38: 474-478. PMID: 16532010, DOI: 10.1038/ng1762.Peer-Reviewed Original ResearchConceptsCalcium oxalate urolithiasisOxalate urolithiasisPlasma oxalate concentrationIntestinal oxalate secretionUrinary oxalate concentrationCommon urologic diseaseNet intestinal absorptionAnion exchanger SLC26A6Dietary oxalate restrictionSlc26a6-null miceSignificant hyperoxaluriaOxalate restrictionUrologic diseasesHigh incidenceIntestinal absorptionExchanger SLC26A6Mutant miceUrolithiasisMiceMajor constitutive roleNet absorptionOxalate secretionHyperoxaluriaOxalate concentrationEpithelial tissues
2005
Role of PDZK1 in membrane expression of renal brush border ion exchangers
Thomson RB, Wang T, Thomson BR, Tarrats L, Girardi A, Mentone S, Soleimani M, Kocher O, Aronson PS. Role of PDZK1 in membrane expression of renal brush border ion exchangers. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 13331-13336. PMID: 16141316, PMCID: PMC1201624, DOI: 10.1073/pnas.0506578102.Peer-Reviewed Original ResearchConceptsProximal tubulesExpression of NHE3Functional activityRole of PDZK1Protein PDZK1Reabsorption of NaBrush border expressionMammalian kidneyCFEXBrush border localizationMutant miceGST fusion proteinProtein expressionKidneyBrush border membrane proteinsExchanger NHE3Membrane expressionNHE3Brush borderBrush border membrane vesiclesPDZK1 interactionTubulesNormal expressionMembrane proteinsPDZK1
1998
Renal and intestinal absorptive defects in mice lacking the NHE3 Na+/H+ exchanger
Schultheis P, Clarke L, Meneton P, Miller M, Soleimani M, Gawenis L, Riddle T, Duffy J, Doetschman T, Wang T, Giebisch G, Aronson P, Lorenz J, Shull G. Renal and intestinal absorptive defects in mice lacking the NHE3 Na+/H+ exchanger. Nature Genetics 1998, 19: 282-285. PMID: 9662405, DOI: 10.1038/969.Peer-Reviewed Original ResearchConceptsAcid-base balanceAbsorptive defectsNHE3-deficient miceFluid volume homeostasisRenal proximalSlight diarrheaPlasma aldosteroneBlood pressureHomozygous mutant miceExchanger mRNANHE2 isoformsBlood analysisMutant miceCompensatory mechanismsFluid absorptionNHE3 functionVolume homeostasisMiceDistribution of NHE3Cl-/HCO3Channel activityNHE3KidneyATPase mRNAIntestine
1997
Sodium/Hydrogen Exchanger Gene Defect in Slow-Wave Epilepsy Mutant Mice
Cox G, Lutz C, Yang C, Biemesderfer D, Bronson R, Fu A, Aronson P, Noebels J, Frankel W. Sodium/Hydrogen Exchanger Gene Defect in Slow-Wave Epilepsy Mutant Mice. Cell 1997, 91: 139-148. PMID: 9335342, DOI: 10.1016/s0092-8674(01)80016-7.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAtaxiaBrain ChemistryCell LineCerebellumCerebral CortexChromosome MappingCrosses, GeneticElectroencephalographyEpilepsyFibroblastsGenes, RecessiveIon TransportMiceMice, Inbred C57BLMice, Neurologic MutantsOrgan SpecificityPhenotypePoint MutationRNASodiumSodium-Hydrogen ExchangersConceptsSodium/hydrogen exchangerSpontaneous mouse mutantDisease-causing mutationsPlasma membraneChromosome 4Null allelesMouse mutantsCell survivalHydrogen exchangerNHE genesMutantsGene defectsMutant miceNHE1Growth factorTonic-clonic seizuresSelective neuronal deathNeuronal deathDelicate balanceNeurological syndromeEpilepsy phenotypeGenesNew toolCell volumeMutations