Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations
Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H. Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations. The Journal Of Clinical Endocrinology & Metabolism 2012, 97: e1978-e1986. PMID: 22865906, PMCID: PMC3462928, DOI: 10.1210/jc.2012-1279.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAmino Acid SequenceAnimalsFamilial Hypophosphatemic RicketsFamily HealthFanconi SyndromeFemaleGenes, RecessiveGenetic VariationGenome-Wide Association StudyGlucose Transporter Type 1Glucose Transporter Type 2HumansHypercalciuriaHypophosphatemia, FamilialKidney Tubules, ProximalMaleMiceMice, TransgenicMolecular Sequence DataOocytesPedigreeRicketsSodium-Phosphate Cotransporter Proteins, Type IIaSodium-Phosphate Cotransporter Proteins, Type IIcXenopus laevisConceptsGlucose transporter 2Sequence analysis of candidate genesCandidate genesSequence analysisGenome-wide linkage scanAnalysis of candidate genesFanconi-Bickel syndromeProximal renal tubulopathyRenal tubulopathyNucleotide sequence analysisGenetic mappingHomozygous mutationPhosphate importLinkage scanMolecular basisXenopus oocytesTransport of glucoseGLUT2 mutationsMolecular levelGenesGlucose transportUrinary phosphate excretionAllelic variantsPhosphate homeostasisDirect nucleotide sequence analysisRoles of Major Facilitator Superfamily Transporters in Phosphate Response in Drosophila
Bergwitz C, Rasmussen MD, DeRobertis C, Wee MJ, Sinha S, Chen HH, Huang J, Perrimon N. Roles of Major Facilitator Superfamily Transporters in Phosphate Response in Drosophila. PLOS ONE 2012, 7: e31730. PMID: 22359624, PMCID: PMC3280997, DOI: 10.1371/journal.pone.0031730.Peer-Reviewed Original ResearchConceptsActivation of MAPKMajor Facilitator Superfamily (MFS) transporterDrosophila larval developmentRNAi-mediated knockdownMajor facilitator superfamily transportersPutative phosphate transportersDrosophila S2R+ cellsFacilitator superfamily transporterSodium-dependent fashionMetazoan speciesMetazoan cellsDrosophila cellsMammalian cellsPhosphate transporterLarval developmentMajor facilitatorPHO84S2R+ cellsFacilitator superfamilySuperfamily transportersMalpighian tubulesXenopus oocyte assayDrosophilaCellular effectsXenopus oocytes