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
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
2013
Cholesterol Accumulation in Podocytes: A Potential Novel Targetable Pathway in Diabetic Nephropathy
Tufro A. Cholesterol Accumulation in Podocytes: A Potential Novel Targetable Pathway in Diabetic Nephropathy. Diabetes 2013, 62: 3661-3662. PMID: 24158993, PMCID: PMC3806593, DOI: 10.2337/db13-1167.Peer-Reviewed Original Research
2010
Induction of Podocyte VEGF164 Overexpression at Different Stages of Development Causes Congenital Nephrosis or Steroid-Resistant Nephrotic Syndrome
Veron D, Reidy K, Marlier A, Bertuccio C, Villegas G, Jimenez J, Kashgarian M, Tufro A. Induction of Podocyte VEGF164 Overexpression at Different Stages of Development Causes Congenital Nephrosis or Steroid-Resistant Nephrotic Syndrome. American Journal Of Pathology 2010, 177: 2225-2233. PMID: 20829436, PMCID: PMC2966782, DOI: 10.2353/ajpath.2010.091146.Peer-Reviewed Original ResearchConceptsNephrotic syndromePodocyte effacementTransgenic miceSteroid-resistant nephrotic syndromeEndothelial cellsSingle transgenic miceMultiple renal diseasesSwollen endothelial cellsCongenital nephrotic syndromeVascular endothelial growthInducible transgenic miceNormal endothelial cellsGlomerular filtration barrierRenal diseasePathogenic rolePodocyte lossMice expressMassive albuminuriaEndothelial growthCongenital nephrosisMinimal changesFoot processesMiceGlomerulomegalyAlbuminuria
2007
Crosstalk between VEGF-A/VEGFR2 and GDNF/RET signaling pathways
Tufro A, Teichman J, Banu N, Villegas G. Crosstalk between VEGF-A/VEGFR2 and GDNF/RET signaling pathways. Biochemical And Biophysical Research Communications 2007, 358: 410-416. PMID: 17490619, DOI: 10.1016/j.bbrc.2007.04.146.Peer-Reviewed Original ResearchConceptsVascular endothelial growth factorCell proliferationEndothelial growth factorNeurotrophic factorGDNF/RETEmbryonic kidney explantsUreteric bud branchingUreteric bud cellsC-RetGrowth factorRT-PCRVEGFNovel cooperative interactionVEGFR2Branching morphogenesisRETVEGFR2 autophosphorylationGDNFKidney developmentBud cellsUreteric budAdditive effectMajor regulatorKidney explantsPhosphorylation