2006
The connecting tubule is the main site of the furosemide-induced urinary acidification by the vacuolar H+-ATPase
Kovacikova J, Winter C, Loffing-Cueni D, Loffing J, Finberg K, Lifton R, Hummler E, Rossier B, Wagner C. The connecting tubule is the main site of the furosemide-induced urinary acidification by the vacuolar H+-ATPase. Kidney International 2006, 70: 1706-1716. PMID: 16985514, DOI: 10.1038/sj.ki.5001851.Peer-Reviewed Original ResearchMeSH KeywordsAcid-Base EquilibriumAmilorideAnimalsDiureticsEpithelial Sodium ChannelsFurosemideGene Expression RegulationGene Expression Regulation, EnzymologicHydrochlorothiazideHydrogen-Ion ConcentrationKidney Tubules, CollectingKidney Tubules, DistalMetabolic Clearance RateMiceMice, KnockoutNephronsProton-Translocating ATPasesWater-Electrolyte BalanceConceptsUrinary acidificationRenal clearance experimentsEffect of furosemideNormal urinary acidificationLumen-negative voltageNet acid excretionThick ascending limbFinal urinary acidificationKidney-specific inactivationENaC channelsClearance experimentsAcid excretionMouse modelAscending limbFurosemideDuct cellsProton secretionMiceExact localizationReabsorptionMain siteB1 subunitAlpha subunitTubulesFunctional expression
2003
Localization and Regulation of the ATP6V0A4 (a4) Vacuolar H+-ATPase Subunit Defective in an Inherited Form of Distal Renal Tubular Acidosis
Stehberger PA, Schulz N, Finberg KE, Karet FE, Giebisch G, Lifton RP, Geibel JP, Wagner CA. Localization and Regulation of the ATP6V0A4 (a4) Vacuolar H+-ATPase Subunit Defective in an Inherited Form of Distal Renal Tubular Acidosis. Journal Of The American Society Of Nephrology 2003, 14: 3027-3038. PMID: 14638902, DOI: 10.1097/01.asn.0000099375.74789.ab.Peer-Reviewed Original ResearchMeSH KeywordsAcid-Base EquilibriumAcidosis, Renal TubularAnimalsHumansKidneyMaleMiceMice, Inbred C57BLProteinsProton-Translocating ATPasesVacuolar Proton-Translocating ATPasesConceptsDistal renal tubular acidosisRenal tubular acidosisLoop of HenleProximal tubulesTubular acidosisMouse kidneyA4 expressionDistal tubulesDistal convoluted tubuleProtein expression levelsElectrolyte intakeA4 proteinConvoluted tubulesMouse nephron segmentsNephron segmentsApical stainingWestern blottingAcidosisProtein expressionKidneyATPase activityDistal portionHenleExpression levelsTubules
2001
Molecular Cloning and Characterization of Atp6n1b A NOVEL FOURTH MURINE VACUOLAR H+-ATPase a-SUBUNIT GENE*
Smith A, Finberg K, Wagner C, Lifton R, Devonald M, Su Y, Karet F. Molecular Cloning and Characterization of Atp6n1b A NOVEL FOURTH MURINE VACUOLAR H+-ATPase a-SUBUNIT GENE*. Journal Of Biological Chemistry 2001, 276: 42382-42388. PMID: 11495928, DOI: 10.1074/jbc.m107267200.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsAquaporin 2Aquaporin 6AquaporinsChromosome MappingCloning, MolecularMiceMolecular Sequence DataPhylogenyPolymorphism, GeneticPregnancy ProteinsProtein SubunitsProton PumpsProton-Translocating ATPasesReverse Transcriptase Polymerase Chain ReactionSuppressor Factors, ImmunologicVacuolar Proton-Translocating ATPasesConceptsAutosomal recessive distal renal tubular acidosisDistal renal tubular acidosisRecessive distal renal tubular acidosisMale genital tissuesRenal tubular acidosisReverse transcription-polymerase chain reactionTranscription-polymerase chain reactionPolymerase chain reactionTubular acidosisGenital tissues
1999
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
Karet F, Finberg K, Nelson R, Nayir A, Mocan H, Sanjad S, Rodriguez-Soriano J, Santos F, Cremers C, Pietro A, Hoffbrand B, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton S, Wu D, Skvorak A, Morton C, Cunningham M, Jha V, Lifton R. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nature Genetics 1999, 21: 84-90. PMID: 9916796, DOI: 10.1038/5022.Peer-Reviewed Original ResearchConceptsRenal tubular acidosisTubular acidosisAcid secretionDistal renal tubular acidosisSensorineural hearing lossRenal acid secretionNormal auditory functionActive proton secretionMetabolic acidosisATP6B1Hearing lossAuditory functionSensorineural deafnessEndolymphatic sacApical proton pumpAcidosisSecretionProton secretionB subunitB1 subunitHuman diseasesMutationsPatientsDiseasePH homeostasis