2021
FGF23 signalling and physiology.
Ho BB, Bergwitz C. FGF23 signalling and physiology. Journal Of Molecular Endocrinology 2021, 66: r23-r32. PMID: 33338030, PMCID: PMC8782161, DOI: 10.1530/jme-20-0178.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsO-glycosylation of FGF23FGF23 signalingSubtilisin-like proprotein convertase furinSuppressing phosphate reabsorptionProprotein convertase furinPost-translationallyO-glycosylationIntact FGF23C-terminusGenetic activityPrevent proteolysisParacrine FGFsHigh-affinity binding sitesFibroblast growth factor 23Fruit flyActive intact FGF23Convertase furinChronic kidney diseaseFGF23 fragmentsGrowth factor 23Physiological roleEndocrine FGFsDihydroxyvitamin D synthesisHyperphosphatemic disordersIntestinal phosphate absorption
2018
Role of phosphate sensing in bone and mineral metabolism
Chande S, Bergwitz C. Role of phosphate sensing in bone and mineral metabolism. Nature Reviews Endocrinology 2018, 14: 637-655. PMID: 30218014, PMCID: PMC8607960, DOI: 10.1038/s41574-018-0076-3.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsPi transportersSignal transductionPi homeostasisCellular phosphate homeostasisPhosphate homeostasisExpression of Pi transportersPi-sensing mechanismEssential structural componentIntracellular signal transductionPi transportMulticellular organismsInositol pyrophosphatesIntracellular Pi levelsDomain proteinsRegulation of FGF23 expressionPlasma membranePhosphate sensingDisorders of phosphate homeostasisCell metabolismExtracellular matrixCellular levelHomeostasisTransductionGenetic disordersOrganisms
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
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 StatementsConceptsAmino 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
2010
Regulation 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
2005
SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis
Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabédian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Jüppner H. SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis. American Journal Of Human Genetics 2005, 78: 179-192. PMID: 16358214, PMCID: PMC1380228, DOI: 10.1086/499409.Peer-Reviewed Original ResearchConceptsConsanguineous BedouinFirst membrane-spanning domainMembrane-spanning domainsPhosphate homeostasisRenal sodium-phosphate cotransporterNucleotide sequence analysisDihydroxyvitamin D levelsSingle nucleotide deletionHereditary hypophosphatemic ricketsCompound heterozygous missenseSLC34A3 mutationsHomozygous single nucleotide deletionHypophosphatemic ricketsLinkage scanCandidate genesGenomic DNASodium-phosphate cotransporterSequence analysisD levelsHomozygosity mappingDeletion mutationsGenomewide linkage scanKey roleChromosome 9q34Mutations