2022
Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis
Cornière N, Thomson RB, Thauvin S, Villoutreix BO, Karp S, Dynia DW, Burlein S, Brinkmann L, Badreddine A, Dechaume A, Derhourhi M, Durand E, Vaillant E, Froguel P, Chambrey R, Aronson PS, Bonnefond A, Eladari D. Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis. Journal Of Medical Genetics 2022, 59: 1035-1043. PMID: 35115415, PMCID: PMC9346097, DOI: 10.1136/jmedgenet-2021-108256.Peer-Reviewed Original ResearchConceptsRare heterozygous missense mutationsWild-type proteinStrong dominant-negative effectDominant negative effectDominant negative mutationMembrane surface expressionOxalate transporter SLC26A6Calcium oxalate nephrolithiasisCotransfection studiesOxalate transporterSilico analysisNegative mutationTransport activityMissense mutationsHeterozygous missense mutationEnteric hyperoxaluriaComplex multifactorial diseaseMutationsOxalate nephrolithiasisHuman populationSurface expressionCell culturesUrinary oxalate excretionMajor risk factorGenetic factors
1999
Specific Association of Megalin and the Na+/H+ Exchanger Isoform NHE3 in the Proximal Tubule*
Biemesderfer D, Nagy T, DeGray B, Aronson P. Specific Association of Megalin and the Na+/H+ Exchanger Isoform NHE3 in the Proximal Tubule*. Journal Of Biological Chemistry 1999, 274: 17518-17524. PMID: 10364184, DOI: 10.1074/jbc.274.25.17518.Peer-Reviewed Original Research
1993
Biosynthesis of the gp330/44-kDa Heymann nephritis antigenic complex: assembly takes place in the ER
Biemesderfer D, Dekan G, Aronson PS, Farquhar MG. Biosynthesis of the gp330/44-kDa Heymann nephritis antigenic complex: assembly takes place in the ER. American Journal Of Physiology 1993, 264: f1011-f1020. PMID: 8322889, DOI: 10.1152/ajprenal.1993.264.6.f1011.Peer-Reviewed Original Research
1992
Inhibition of Ca-activated K+ channels from renal microvillus membrane vesicles by amiloride analogs
Zweifach A, Desir G, Aronson P, Giebisch G. Inhibition of Ca-activated K+ channels from renal microvillus membrane vesicles by amiloride analogs. The Journal Of Membrane Biology 1992, 128: 115-122. PMID: 1501239, DOI: 10.1007/bf00231884.Peer-Reviewed Original Research
1991
A Ca-activated K channel from rabbit renal brush-border membrane vesicles in planar lipid bilayers
Zweifach A, Desir GV, Aronson PS, Giebisch GH. A Ca-activated K channel from rabbit renal brush-border membrane vesicles in planar lipid bilayers. American Journal Of Physiology 1991, 261: f187-f196. PMID: 1713419, DOI: 10.1152/ajprenal.1991.261.1.f187.Peer-Reviewed Original Research
1986
Oxalate transport by anion exchange across rabbit ileal brush border.
Knickelbein RG, Aronson PS, Dobbins JW. Oxalate transport by anion exchange across rabbit ileal brush border. Journal Of Clinical Investigation 1986, 77: 170-175. PMID: 3003149, PMCID: PMC423323, DOI: 10.1172/jci112272.Peer-Reviewed Original ResearchConceptsInside-alkaline pH gradientOxalate uptakeBrush border membraneCl- gradientRabbit ileal brush borderBrush borderIleal brush borderBrush border componentFivefold accumulationFourfold accumulationBorder membraneAbsence of HCO3Alkaline pH gradientRabbit ileumHCO3- exchangeDensity gradient centrifugationBasolateral components
1985
The plasma membrane sodium-hydrogen exchanger and its role in physiological and pathophysiological processes.
Mahnensmith RL, Aronson PS. The plasma membrane sodium-hydrogen exchanger and its role in physiological and pathophysiological processes. Circulation Research 1985, 56: 773-788. PMID: 2988813, DOI: 10.1161/01.res.56.6.773.Commentaries, Editorials and LettersMeSH KeywordsAcid-Base EquilibriumAnimalsBiological Transport, ActiveBlood PlateletsCalciumCarrier ProteinsCations, MonovalentCell MembraneEpitheliumHormonesHumansHydrogenHydrogen-Ion ConcentrationHypertensionLeukocytesMembrane ProteinsNeoplasmsSodiumSodium-Hydrogen ExchangersSodium-Potassium-Exchanging ATPaseWater-Electrolyte BalanceConceptsSodium-hydrogen exchangerCellular acid-base homeostasisAllosteric regulationPlasma membraneRegulation of intracellularStimulus-response couplingIntracellular protonsPathophysiological processesPhysiological roleTransport systemTransmembrane exchangeCell growthAcid-base homeostasisRegulationSodium-hydrogen exchangeKinetic propertiesSuch diverse conditionsMetabolic responsePathophysiological roleDiverse conditionsCellsCell volumeRoleHomeostasisIntracellular