2016
Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis
Vichot AA, Zsengellér ZK, Shmukler BE, Adams ND, Dahl NK, Alper SL. Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis. Clinical Kidney Journal 2016, 10: 135-140. PMID: 28638614, PMCID: PMC5469557, DOI: 10.1093/ckj/sfw074.Peer-Reviewed Original ResearchDistal renal tubular acidosisRenal tubular acidosisTubular acidosisHuman kidneyEnd-stage kidneysAlpha-intercalated cellsCultured epithelial monolayersKidney tissueAcidosisPatient tissuesKidneyKidney isoformExchanger 1Missense mutationsEpithelial monolayersHeterologous expression systemPredominant absenceTissueAnion exchanger 1
2003
Deficient HCO 3 - Transport in an AE1 Mutant with Normal Cl- Transport Can be Rescued by Carbonic Anhydrase II Presented on an Adjacent AE1 Protomer*
Dahl NK, Jiang L, Chernova MN, Stuart-Tilley AK, Shmukler BE, Alper SL. Deficient HCO 3 - Transport in an AE1 Mutant with Normal Cl- Transport Can be Rescued by Carbonic Anhydrase II Presented on an Adjacent AE1 Protomer*. Journal Of Biological Chemistry 2003, 278: 44949-44958. PMID: 12933803, DOI: 10.1074/jbc.m308660200.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsAnion Exchange Protein 1, ErythrocyteAnionsBicarbonatesBinding SitesBiological TransportCarbonic Anhydrase IIChloridesDimerizationFemaleGene DeletionGene ExpressionHumansLipid BilayersMiceMolecular Sequence DataMutagenesisMutation, MissenseOocytesProtein SubunitsStructure-Activity RelationshipTransfectionXenopusConceptsCl-/HCO3- exchange activityPrevention of Ca2Normal CLCl-/HCO3II inhibitionHCO3- transportIntracellular HCO3Missense mutationsCytoplasmic tailC-terminal cytoplasmic tailXenopus oocytesCa2Binding sitesCl transportAE1InhibitionIntact Ca2Minimal extentCarbonic anhydrase IIActivityMissense mutantsPathwayAE1 mutantsExchange activity