2021
Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis
Li Q, Gulati A, Lemaire M, Nottoli T, Bale A, Tufro A. Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis. Kidney International 2021, 99: 1102-1117. PMID: 33412162, PMCID: PMC8076076, DOI: 10.1016/j.kint.2020.12.022.Peer-Reviewed Original ResearchConceptsRhoA activityRho-GAP domainActin stress fiber formationCell junction assemblySmall GTPase proteinsNovel candidate genesStress fiber formationBundles actinCytoskeleton regulationGTPase proteinsActomyosin contractilityJunction assemblyMYO9AAutosomal dominant focal segmental glomerulosclerosisCandidate genesGene contributionCytoskeletal apparatusUnconventional myosinNovel componentRhoA geneWhole-exome sequencingGene editingFSGS phenotypeMolecular causesCalmodulin interaction
2010
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
Mistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao H, Lin A, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 19473-19478. PMID: 20962279, PMCID: PMC2984187, DOI: 10.1073/pnas.1003308107.Peer-Reviewed Original ResearchConceptsType 1 Gaucher diseaseThymic T cellsGene-deficient miceOsteoblastic bone formationWorthwhile therapeutic targetDendritic cellsSevere osteoporosisAutoimmune diseasesWidespread dysfunctionCytokine measurementsT cellsCell lineagesParkinson's diseaseTherapeutic targetGBA1 geneMononuclear phagocytesGaucher diseaseGlucocerebrosidase deficiencyMolecular dysregulationDiseaseInhibitory effectBone formationMultiple cell lineagesMesenchymal cell lineagesMacrophages
1999
AP-2αTranscription Factor Is Required for Early Morphogenesis of the Lens Vesicle
West-Mays J, Zhang J, Nottoli T, Hagopian-Donaldson S, Libby D, Strissel K, Williams T. AP-2αTranscription Factor Is Required for Early Morphogenesis of the Lens Vesicle. Developmental Biology 1999, 206: 46-62. PMID: 9918694, DOI: 10.1006/dbio.1998.9132.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, NewbornAquaporinsChimeraDNA-Binding ProteinsEyeEye ProteinsGene Expression Regulation, DevelopmentalHistocytochemistryHomeodomain ProteinsImmunohistochemistryLens, CrystallineMembrane GlycoproteinsMiceMice, KnockoutMorphogenesisPaired Box Transcription FactorsPAX6 Transcription FactorPhenotypeRepressor ProteinsTranscription Factor AP-2Transcription FactorsConceptsOcular defectsGanglion cell layerAP-2alphaRetinoic acid-responsive geneNeural retinaChimeric miceOcular tissuesOcular phenotypeDorsal retinalOptic cupCell layerLens vesicleAP-2 transcription factorsEyesEarly morphogenesisSurface ectodermLens developmentKnockout embryosCurrent studyAP-2 proteinsAcid-responsive genesExpression patternsPersistent adhesionTranscription factorsComplete lack