2005
The B1-subunit of the H+ ATPase is required for maximal urinary acidification
Finberg KE, Wagner CA, Bailey MA, Păunescu T, Breton S, Brown D, Giebisch G, Geibel JP, Lifton RP. The B1-subunit of the H+ ATPase is required for maximal urinary acidification. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 13616-13621. PMID: 16174750, PMCID: PMC1224669, DOI: 10.1073/pnas.0506769102.Peer-Reviewed Original ResearchConceptsMaximal urinary acidificationNormal urinary acidificationMetabolic acidosisUrinary acidificationDistal renal tubular acidosisAcid challengeRenal tubular acidosisAcute intracellular acidificationB1 subunitLumen-negative potentialFurosemide infusionTubular acidosisAlkaline urineDistal nephronGreater severityAcidosisMiceLoss of B1Intracellular acidificationApical expressionUrineDuctFurther decreaseIsoformsPlasma membrane
2004
Renal Vacuolar H+-ATPase
Wagner CA, Finberg KE, Breton S, Marshansky V, Brown D, Geibel JP. Renal Vacuolar H+-ATPase. Physiological Reviews 2004, 84: 1263-1314. PMID: 15383652, DOI: 10.1152/physrev.00045.2003.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsProximal tubular bicarbonate reabsorptionDistal renal tubular acidosisTubular bicarbonate reabsorptionRenal tubular acidosisFinal urinary acidificationTubular acidosisElectrolyte statusBicarbonate reabsorptionMonogenic defectsProximal tubulesUrinary acidificationKidneyATP-dependent transportVariety of factorsHigher numberPatientsIntracellular organellesAcidosisRegulatory proteinsLocalization patterns
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 ResearchConceptsDistal 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 levelsTubulesMolecular cloning and characterization of Atp6v1b1, the murine vacuolar H+-ATPase B1-subunit
Finberg KE, Wagner CA, Stehberger PA, Geibel JP, Lifton RP. Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+-ATPase B1-subunit. Gene 2003, 318: 25-34. PMID: 14585495, DOI: 10.1016/s0378-1119(03)00790-x.Peer-Reviewed Original ResearchMeSH Keywords5' Flanking RegionAmino Acid SequenceAnimalsAntibody SpecificityBase SequenceCloning, MolecularDNADNA, ComplementaryEpididymisGene Expression Regulation, EnzymologicHumansImmune SeraImmunohistochemistryIsoenzymesKidneyMaleMiceMice, Inbred StrainsMolecular Sequence DataPhylogenyProtein SubunitsRNA, MessengerSequence AlignmentSequence Analysis, DNASequence Homology, Amino AcidSequence Homology, Nucleic AcidVacuolar Proton-Translocating ATPasesConceptsDistal renal tubular acidosisRenal tubular acidosisMouse renal cortexProton-translocating ATPasesTubular acidosisRenal cortexSubset of tissuesAnimal modelsATP6V1B1Major organsGenomic organizationGenomic lociMouse kidneyProtein levelsMolecular cloningAcid proteinPlasma membraneMurine orthologIntracellular organellesB1 isoformKidneyNorthern blottingMice lacking the B1 subunit of H+-ATPase have normal hearing
Dou H, Finberg K, Cardell EL, Lifton R, Choo D. Mice lacking the B1 subunit of H+-ATPase have normal hearing. Hearing Research 2003, 180: 76-84. PMID: 12782355, DOI: 10.1016/s0378-5955(03)00108-4.Peer-Reviewed Original ResearchMeSH KeywordsAcoustic StimulationAnimalsAnimals, NewbornAuditory ThresholdCochleaEar, InnerEmbryo, MammalianEmbryonic and Fetal DevelopmentEvoked Potentials, Auditory, Brain StemFemaleHearingIn Situ HybridizationMaleMiceMice, KnockoutProtein SubunitsTissue DistributionVacuolar Proton-Translocating ATPasesConceptsNormal inner ear functionInner ear functionMouse inner earInner earEar functionNormal hearingAuditory brainstem response testAutosomal recessive distal renal tubular acidosisSubunit null mutant miceDistal renal tubular acidosisInner ear developmentNormal inner ear developmentRecessive distal renal tubular acidosisRenal tubular acidosisSensorineural hearing lossB1 subunitNull mutant miceAcid-base homeostasisPhysiologic assessmentTubular acidosisClinical dataHearing lossPhysiologic effectsDuct epitheliumATPase B1 subunit
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
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34
Karet F, Finberg K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Medina J, Lifton R. Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34. American Journal Of Human Genetics 1999, 65: 1656-1665. PMID: 10577919, PMCID: PMC1288376, DOI: 10.1086/302679.Peer-Reviewed Original ResearchMeSH KeywordsAcidosis, Renal TubularAdenosine TriphosphatasesAdultAnion Transport ProteinsAntiportersChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 2Chromosomes, Human, Pair 7ConsanguinityDNA Mutational AnalysisFemaleGenes, RecessiveHearingHumansHydrogen-Ion ConcentrationInfantInfant, NewbornLod ScoreMaleMembrane ProteinsMiddle EastMolecular Sequence DataPakistanPedigreePolymorphism, Single-Stranded ConformationalSLC4A ProteinsConceptsDistal renal tubular acidosesSensorineural hearing lossNormal hearingProgressive bilateral sensorineural hearing lossBilateral sensorineural hearing lossAutosomal recessive distal renal tubular acidosisDistal renal tubular acidosisRecessive distal renal tubular acidosisSevere metabolic acidosisRenal tubular acidosisRenal tubular acidosesMetabolic acidosisTubular acidosisRenal calcificationHearing lossAlkaline urineATP6B1Distal nephronImpaired hearingApical proton pumpChildhood featuresAcidosisOne-thirdMolecular examinationHearingMutations 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