2011
Phosphate Sensing
Bergwitz C, Jüppner H. Phosphate Sensing. Advances In Kidney Disease And Health 2011, 18: 132-144. PMID: 21406298, PMCID: PMC3059779, DOI: 10.1053/j.ackd.2011.01.004.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMeSH KeywordsBacteriaBacterial Physiological PhenomenaBiological Transport, ActiveGene Expression RegulationHomeostasisHumansMicrobiological PhenomenaMitogen-Activated Protein KinasesPhosphatesSignal TransductionSodium-Phosphate Cotransporter ProteinsYeastsConceptsAmino acid sequence conservationNumerous cellular functionsMulti-protein complexesDifferent signal transduction cascadesSignal transduction cascadeExpression of genesSignal transduction cascadesEukaryotic organismsMulticellular organismsMetazoan cellsMetazoan orthologsSequence conservationCellular functionsPHO pathwayTransduction cascadePlasma membraneAmbient phosphateCell metabolismExtracellular phosphateYeastGrowth of tissuesPhosphate sensorPhosphate homeostasisPhosphate uptakeCirculating phosphate levels
2008
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc
Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. American Journal Of Physiology. Renal Physiology 2008, 295: f371-f379. PMID: 18480181, PMCID: PMC2519180, DOI: 10.1152/ajprenal.00090.2008.Peer-Reviewed Original ResearchMeSH KeywordsAdultAllelesAnimalsBase SequenceExocytosisFamilial Hypophosphatemic RicketsFemaleHaplotypesHumansHypercalciuriaKidneyMaleMolecular Sequence DataMutation, MissenseOocytesOpossumsPhosphatesPolymorphism, Single NucleotideSodiumSodium-Phosphate Cotransporter ProteinsSodium-Phosphate Cotransporter Proteins, Type IIcThreonineXenopus laevisConceptsEncoding enhanced green fluorescent proteinHereditary hypophosphatemic ricketsNaPi-IIcSodium-phosphate cotransporterLoss of expressionAmino acid residuesSodium-phosphate cotransportGreen fluorescence proteinImportant functional roleComplete lossOpossum kidneyHypophosphatemic ricketsXenopus laevis oocytesNovel missense mutationPaternal alleleWild-typeFunctional analysisFluorescence proteinNH2 terminusAcid residuesApical patchesCompound heterozygous mutationsExpression plasmidFunctional roleRecurrent kidney stones