2016
FAT1 mutations cause a glomerulotubular nephropathy
Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J, Fang H, Airik R, Vega-Warner V, Cho KJ, Chan TA, Morris LG, ffrench-Constant C, Allen N, McNeill H, Büscher R, Kyrieleis H, Wallot M, Gaspert A, Kistler T, Milford DV, Saleem MA, Keng WT, Alexander SI, Valentini RP, Licht C, Teh JC, Bogdanovic R, Koziell A, Bierzynska A, Soliman NA, Otto EA, Lifton RP, Holzman LB, Sibinga NE, Walz G, Tufro A, Hildebrandt F. FAT1 mutations cause a glomerulotubular nephropathy. Nature Communications 2016, 7: 10822. PMID: 26905694, PMCID: PMC4770090, DOI: 10.1038/ncomms10822.Peer-Reviewed Original ResearchConceptsSteroid-resistant nephrotic syndromeChronic kidney diseaseKnockdown of Fat1Podocyte foot process effacementTubular cell functionRenal tubular cellsFoot process effacementNephrotic syndromeNeurological involvementKidney diseaseFAT1 mutationsDisease entityPodocyte-specific deletionTubular cellsTubular ectasiaProcess effacementCell functionDecreased migrationRac1/Cdc42PathogenesisFAT1Barrier developmentKnockdownRecessive mutationsHaematuria
2015
Essential Role of X-Box Binding Protein-1 during Endoplasmic Reticulum Stress in Podocytes
Hassan H, Tian X, Inoue K, Chai N, Liu C, Soda K, Moeckel G, Tufro A, Lee AH, Somlo S, Fedeles S, Ishibe S. Essential Role of X-Box Binding Protein-1 during Endoplasmic Reticulum Stress in Podocytes. Journal Of The American Society Of Nephrology 2015, 27: 1055-1065. PMID: 26303067, PMCID: PMC4814187, DOI: 10.1681/asn.2015020191.Peer-Reviewed Original ResearchConceptsX-box binding protein 1Endoplasmic reticulum stress responseEndoplasmic reticulum stressGlomerular filtration barrierPodocyte injuryReticulum stress responseBinding protein 1Reticulum stressProtein 1Filtration barrierFoot process effacementProgressive albuminuriaMouse modelProcess effacementUnfolded protein response pathwayEpithelial cellsNormal glomerular filtration barrierProtein response pathwayEndoplasmic reticulumPodocytesGenetic inactivationXBP1 pathwayInjuryJNK pathwayStress response
2014
Semaphorin3a Promotes Advanced Diabetic Nephropathy
Aggarwal PK, Veron D, Thomas DB, Siegel D, Moeckel G, Kashgarian M, Tufro A. Semaphorin3a Promotes Advanced Diabetic Nephropathy. Diabetes 2014, 64: 1743-1759. PMID: 25475434, PMCID: PMC4407856, DOI: 10.2337/db14-0719.Peer-Reviewed Original ResearchMeSH KeywordsActinsAnimalsChromonesCollagen Type IVDiabetes Mellitus, ExperimentalDiabetic NephropathiesEnzyme-Linked Immunosorbent AssayGene Expression RegulationGene Knockdown TechniquesHumansIntegrin alphaVbeta3LamininMembrane ProteinsMiceMice, KnockoutMicrofilament ProteinsMicrotubule-Associated ProteinsMixed Function OxygenasesNerve Tissue ProteinsPodocytesProteinuriaReceptors, Cell SurfaceRenal InsufficiencySemaphorin-3AWT1 ProteinsXanthonesConceptsAdvanced diabetic nephropathyDiabetic nephropathyRenal insufficiencyDiffuse podocyte foot process effacementPodocyte foot process effacementSevere diabetic nephropathyCollagen IV accumulationPotential therapeutic targetFoot process effacementGlomerular nodulesKimmelstiel-WilsonRenal biopsyGlomerular filtration barrierNodular glomerulosclerosisDiabetic miceMassive proteinuriaNovel therapiesDisease outcomePathogenic factorsTargetable pathwaysTherapeutic targetProcess effacementBarrier abnormalitiesFunction miceNephropathy
2007
Semaphorin3a disrupts podocyte foot processes causing acute proteinuria
Tapia R, Guan F, Gershin I, Teichman J, Villegas G, Tufro A. Semaphorin3a disrupts podocyte foot processes causing acute proteinuria. Kidney International 2007, 73: 733-740. PMID: 18075495, DOI: 10.1038/sj.ki.5002726.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAnimalsCytoskeletal ProteinsDown-RegulationGlomerular Basement MembraneGlomerular Filtration RateIntracellular Signaling Peptides and ProteinsMaleMembrane ProteinsMiceMice, Inbred StrainsPermeabilityPodocytesProteinuriaRecombinant ProteinsSemaphorin-3AVascular Endothelial Growth Factor AVascular Endothelial Growth Factor Receptor-1Vascular Endothelial Growth Factor Receptor-2ConceptsPodocyte foot process effacementNephrotic range proteinuriaEndothelial cell damageVascular endothelial growth factorSlit diaphragm protein podocinFoot process effacementEndothelial growth factorReceptor 2 signalingVascular endothelial growth factor receptor 2 signalingAcute proteinuriaRange proteinuriaReceptor expressionVascular endothelial growth factor 165Process effacementBarrier homeostasisAdult mouse kidneyUltrastructural abnormalitiesSemaphorin3AEndothelial cellsCell damageGrowth factorMouse kidneyGuidance proteinsProteinuriaDownregulation