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
2009
Defective O-Glycosylation due to a Novel Homozygous S129P Mutation Is Associated with Lack of Fibroblast Growth Factor 23 Secretion and Tumoral Calcinosis
Bergwitz C, Banerjee S, Abu-Zahra H, Kaji H, Miyauchi A, Sugimoto T, Jüppner H. Defective O-Glycosylation due to a Novel Homozygous S129P Mutation Is Associated with Lack of Fibroblast Growth Factor 23 Secretion and Tumoral Calcinosis. The Journal Of Clinical Endocrinology & Metabolism 2009, 94: 4267-4274. PMID: 19837926, PMCID: PMC2775647, DOI: 10.1210/jc.2009-0961.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAmino Acid SubstitutionAnimalsBase SequenceCalcinosisCarrier StateChlorocebus aethiopsCodonCOS CellsDNA PrimersExonsFibroblast Growth Factor-23Fibroblast Growth FactorsGlycosylationHomozygoteHumansHypophosphatemia, FamilialMolecular Sequence DataNeoplasmsPolymorphism, Single NucleotideProlineSerineConceptsExpression vectors encoding wild-typeSerine to prolineHomozygous mutationFraction of lysatesCOS-7 cellsGlycoprotein fractionDefective O-glycosylationMutant hormoneO-glycosylationProtein speciesExon 2Poor secretionCOS-7Western blot analysisGenetic causeCodon 129Hyperphosphatemic tumoral calcinosisMutationsWild-typeFGF23 mutationsAssociated with lackBlot analysisCarriers in vivoFibroblast growth factorLysates