2018
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy
Bergwitz C, Miyamoto KI. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. Pflügers Archiv - European Journal Of Physiology 2018, 471: 149-163. PMID: 30109410, DOI: 10.1007/s00424-018-2184-2.ChaptersConceptsElevated 1,25(OH)2D levelsHereditary hypophosphatemic ricketsHypophosphatemic ricketsActive vitamin D analoguesEnhanced intestinal calcium absorptionActive vitamin D analogsFibroblast growth factor 23Kidney stonesRare autosomal recessive disorderIntestinal calcium absorptionGrowth factor 23Risk of kidney stonesUrinary phosphate wastingDistal renal tubulesVitamin D analogsX-linked hypophosphatemiaAutosomal recessive disorderDevelopment of kidney stonesLoss-of-function mutationsSecondary hyperparathyroidismClinical presentationFactor 23Parathyroid hormoneBone lossCalcium absorption
2012
FGF23 and Syndromes of Abnormal Renal Phosphate Handling
Bergwitz C, Jüppner H. FGF23 and Syndromes of Abnormal Renal Phosphate Handling. Advances In Experimental Medicine And Biology 2012, 728: 41-64. PMID: 22396161, PMCID: PMC5234086, DOI: 10.1007/978-1-4614-0887-1_3.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsLoss-of-function mutationsParathyroid hormoneAutosomal dominant hypophosphatemic ricketsDentin matrix protein 1Ecto-nucleotide pyrophosphatase/phosphodiesterase 1O-glycosylation of FGF23Hypophosphatemic ricketsAbnormal renal phosphate handlingImpaired O-glycosylationFibroblast growth factor 23Hormonal bone-parathyroid-kidney axisGrowth factor 23Serum phosphate levelsRenal phosphate excretionRenal phosphate handlingFamilial hyperphosphatemic tumoral calcinosisSodium-phosphate cotransporters NaPi-IIaHereditary hypophosphatemic ricketsHyperphosphatemic tumoral calcinosisIncreased serum phosphate levelsFunction mutationsPhosphate-regulating geneRare genetic disorderCotransporter NaPi-IIaDominant hypophosphatemic rickets
2010
Acute Down-regulation of Sodium-dependent Phosphate Transporter NPT2a Involves Predominantly the cAMP/PKA Pathway as Revealed by Signaling-selective Parathyroid Hormone Analogs
Nagai S, Okazaki M, Segawa H, Bergwitz C, Dean T, Potts JT, Mahon MJ, Gardella TJ, Jüppner H. Acute Down-regulation of Sodium-dependent Phosphate Transporter NPT2a Involves Predominantly the cAMP/PKA Pathway as Revealed by Signaling-selective Parathyroid Hormone Analogs. Journal Of Biological Chemistry 2010, 286: 1618-1626. PMID: 21047792, PMCID: PMC3020770, DOI: 10.1074/jbc.m110.198416.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCattleChlorocebus aethiopsCOS CellsCyclic AMPCyclic AMP-Dependent Protein KinasesDown-RegulationHumansIn Vitro TechniquesKidney Tubules, ProximalMaleMiceMice, Inbred C57BLOpossumsOsteoblastsParathyroid HormonePhosphorusPseudohypoparathyroidismRatsSignal TransductionSodiumSodium-Phosphate Cotransporter Proteins, Type IIaConceptsAcute down-regulationNpt2a expressionParathyroid hormoneRenal proximal tubule cellsParathyroid hormone (PTH)/PTH-related peptideCAMP/PKALong-acting PTH analogPTH analogsWild-type miceRenal proximal tubulesIntracellular calcium responsesParathyroid hormone analogProximal tubule cellsOpossum kidney cellsM-PTH(1Prolonged cAMP responsesParathyroid hormone analoguesCAMP/PKA signaling pathwayPTH-dependent regulationRenal brush border membraneClonal cell linesInducing IP(3Pseudohypoparathyroid patientsMembrane expressionCalcium responseRegulation of Phosphate Homeostasis by PTH, Vitamin D, and FGF23
Bergwitz C, Jüppner H. Regulation of Phosphate Homeostasis by PTH, Vitamin D, and FGF23. Annual Review Of Medicine 2010, 61: 91-104. PMID: 20059333, PMCID: PMC4777331, DOI: 10.1146/annurev.med.051308.111339.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsParathyroid hormoneDentin matrix protein 1Regulation of phosphate homeostasisVitamin DPhosphate homeostasisFibroblast growth factor 23Serum phosphorus levelsGrowth factor 23Renal phosphate excretionSecretion of FGF23Secretion of parathyroid hormoneSodium-phosphate cotransporters NaPi-IIaCotransporter NaPi-IIaIncreases renal phosphate excretionGenetically engineered miceRegulation of calcium homeostasisHomologies to endopeptidasesKidney axisMatrix protein 1Sodium-phosphate cotransporter NaPi-IIaFactor 23Serum phosphorusPhosphate excretionParathyroid glandsHormonal bone-parathyroid-kidney axis
2009
Disorders of Phosphate Homeostasis and Tissue Mineralisation
Bergwitz C, Jüppner H. Disorders of Phosphate Homeostasis and Tissue Mineralisation. Endocrine Development 2009, 16: 133-156. PMID: 19494665, PMCID: PMC3810012, DOI: 10.1159/000223693.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsDisorders of phosphate homeostasisPhosphate homeostasisFibroblast growth factor 23Secretion of parathyroid hormoneAbnormal phosphate homeostasisDentin matrix protein 1Tissue mineralizationGrowth factor 23Co-receptor KlothoBone-kidney axisReabsorption of phosphateExpression of FGF23Renal proximal tubulesHomologies to endopeptidasesMatrix protein 1Phosphate-regulating geneCirculating phosphate concentrationClinical presentationFactor 23Parathyroid hormoneUDP-N-acetyl-alpha-D-galactosamineParathyroid glandsDiagnostic evaluationProximal tubulesD-galactosamine
1999
A G Protein-coupled Receptor from Zebrafish Is Activated by Human Parathyroid Hormone and Not by Human or Teleost Parathyroid Hormone-related Peptide IMPLICATIONS FOR THE EVOLUTIONARY CONSERVATION OF CALCIUM-REGULATING PEPTIDE HORMONES*
Rubin D, Hellman P, Zon L, Lobb C, Bergwitz C, Jüppner H. A G Protein-coupled Receptor from Zebrafish Is Activated by Human Parathyroid Hormone and Not by Human or Teleost Parathyroid Hormone-related Peptide IMPLICATIONS FOR THE EVOLUTIONARY CONSERVATION OF CALCIUM-REGULATING PEPTIDE HORMONES*. Journal Of Biological Chemistry 1999, 274: 23035-23042. PMID: 10438471, DOI: 10.1074/jbc.274.33.23035.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceBiological EvolutionBlotting, SouthernCloning, MolecularDNA ProbesDNA, ComplementaryGTP-Binding ProteinsHumansIctaluridaeMolecular Sequence DataParathyroid HormoneParathyroid Hormone-Related ProteinProteinsRatsReceptor, Parathyroid Hormone, Type 2Receptors, Parathyroid HormoneRNA SplicingSequence Homology, Amino AcidZebrafishConceptsG protein-coupled receptorsAmino acid sequence identityProtein-coupled receptorsCAMP accumulationParathyroid hormoneAmino-terminal extracellular domainGrowth hormone-releasing hormoneCalcium-regulating peptide hormoneCDNA clonesHormone-releasing hormoneSequence identityParathyroid hormone 2 receptorHuman homologPTH/PTHrP receptorFamily of G protein-coupled receptorsHuman parathyroid hormoneAgonist-dependent activationSplice variantsCOS-7COS-7 cellsEncoding portionsExtracellular domainLigand specificityAmino acidsEvolutionary conservation
1998
Identification, functional characterization, and developmental expression of two nonallelic parathyroid hormone (PTH)/PTH-related peptide receptor isoforms in Xenopus laevis (Daudin).
Bergwitz C, Klein P, Kohno H, Forman SA, Lee K, Rubin D, Jüppner H. Identification, functional characterization, and developmental expression of two nonallelic parathyroid hormone (PTH)/PTH-related peptide receptor isoforms in Xenopus laevis (Daudin). Endocrinology 1998, 139: 723-32. PMID: 9449646, DOI: 10.1210/endo.139.2.5733.Peer-Reviewed Original ResearchConceptsReceptor isoformsMammalian COS-7 cellsAfrican clawed frog Xenopus laevisIsoform BXenopus laevisParathyroid hormoneClawed frog Xenopus laevisComplementary DNA librarySubpopulations of mononuclear cellsPTH/PTH-related peptideFrog Xenopus laevisCOS-7 cellsPTH-(1-34Accumulation of cAMPVoltage clamp experimentsNeurula stage embryosMessenger RNA expressionInositol phosphate turnoverRibonuclease protection analysisPTHrP-(1-36DNA libraryTadpole developmentIn situ hybridizationCoding regionIncreased approximately 30-fold
1997
Residues in the Membrane-spanning and Extracellular Loop Regions of the Parathyroid Hormone (PTH)-2 Receptor Determine Signaling Selectivity for PTH and PTH-related Peptide*
Bergwitz C, Jusseaume S, Luck M, Jüppner H, Gardella T. Residues in the Membrane-spanning and Extracellular Loop Regions of the Parathyroid Hormone (PTH)-2 Receptor Determine Signaling Selectivity for PTH and PTH-related Peptide*. Journal Of Biological Chemistry 1997, 272: 28861-28868. PMID: 9360953, DOI: 10.1074/jbc.272.46.28861.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsCell MembraneCOS CellsCyclic AMPHistidineHumansIsoleucineMolecular Sequence DataMutagenesis, Site-DirectedParathyroid HormoneParathyroid Hormone-Related ProteinPeptide FragmentsProteinsReceptor, Parathyroid Hormone, Type 2Receptors, Parathyroid HormoneSequence Homology, Amino AcidSignal TransductionConceptsPTH-2 receptorPTH-1 receptorParathyroid hormoneCOOH-terminal portionCOS-7 cellsCassette substitutionsPTH 1Membrane-spanningPoint mutationsTransmembrane helix 3Helix 3Divergent residuesPTHCOS-7Receptor selectivityResidues 5ReceptorsPTH-related peptideFunctional interactionsPTHrP-(1-36Receptor DetermineReceptor chimerasCAMP responseExtracellular loop 2PTH-2
1996
Full Activation of Chimeric Receptors by Hybrids between Parathyroid Hormone and Calcitonin EVIDENCE FOR A COMMON PATTERN OF LIGAND-RECEPTOR INTERACTION*
Bergwitz C, Gardella T, Flannery M, Potts J, Kronenberg H, Goldring S, Jüppner H. Full Activation of Chimeric Receptors by Hybrids between Parathyroid Hormone and Calcitonin EVIDENCE FOR A COMMON PATTERN OF LIGAND-RECEPTOR INTERACTION*. Journal Of Biological Chemistry 1996, 271: 26469-26472. PMID: 8900113, DOI: 10.1074/jbc.271.43.26469.Peer-Reviewed Original ResearchConceptsParathyroid hormoneG protein-coupled receptorsProtein-coupled receptorsReceptor chimerasPTH receptorFamily of G protein-coupled receptorsLigand-receptor interactionsPatterns of ligand-receptor interactionsCalcitoninParathyroid hormone receptorReceptorsCommon patternChimeric receptorsHormoneHybrid ligandsAmino acid sequence homologyFull activationSame family
1994
Rapid desensitization of parathyroid hormone dependent adenylate cyclase in perifused human osteosarcoma cells (SaOS-2)
Bergwitz C, Abou-Samra A, Hesch R, Jüppner H. Rapid desensitization of parathyroid hormone dependent adenylate cyclase in perifused human osteosarcoma cells (SaOS-2). Biochimica Et Biophysica Acta 1994, 1222: 447-456. PMID: 8038214, DOI: 10.1016/0167-4889(94)90053-1.Peer-Reviewed Original ResearchConceptsApplication of parathyroid hormoneParathyroid hormonePTH(1-34CAMP releasePerifusion systemIncrease bone mass in vivoHormone-dependent adenylate cyclaseAdenylate cyclaseSaos-2 cellsReceptor internalizationPMA pre-treatmentDose-dependent increaseCyclic AMP accumulationBone mass in vivoStimulated cAMP accumulationHuman osteosarcoma cell line Saos-2Saos-2Osteosarcoma cell line Saos-2Cells in vitroMass in vivoBone massPerifusion experimentsBPTH(3-34Human osteosarcoma cellsHomologous desensitization