2022
Loss of Serum Glucocorticoid-Inducible Kinase 1 SGK1 Worsens Malabsorption and Diarrhea in Microvillus Inclusion Disease (MVID)
Ahsan K, dos Reis DC, Barbieri A, Sumigray KD, Nottoli T, Salas PJ, Ameen NA. Loss of Serum Glucocorticoid-Inducible Kinase 1 SGK1 Worsens Malabsorption and Diarrhea in Microvillus Inclusion Disease (MVID). Journal Of Clinical Medicine 2022, 11: 4179. PMID: 35887942, PMCID: PMC9319011, DOI: 10.3390/jcm11144179.Peer-Reviewed Original ResearchMicrovillus inclusion diseaseSevere diarrheaInclusion diseaseFluid secretionCystic fibrosis transmembrane conductance regulatorDouble knockout miceMicrovillus inclusionsGlucocorticoid-inducible kinase 1Carbohydrate malabsorptionKnockout miceIntestinal carbohydrateDiarrheaDiarrheal diseaseMalabsorptionMiceVillus enterocytesDiseaseLoss of MYO5BFunction mutationsApical cystic fibrosis transmembrane conductance regulatorFibrosis transmembrane conductance regulatorKinase 1SecretionIntestineTransmembrane conductance regulatorA Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus‐like Disease in Mice
Meas R, Nititham J, Taylor KE, Maher S, Clairmont K, Carufe KEW, Kashgarian M, Nottoli T, Cheong A, Nagel ZD, Gaffney PM, Criswell LA, Sweasy JB. A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus‐like Disease in Mice. ACR Open Rheumatology 2022, 4: 760-770. PMID: 35708944, PMCID: PMC9469486, DOI: 10.1002/acr2.11471.Peer-Reviewed Original ResearchSystemic lupus erythematosusAntinuclear antibodiesMSH6 variantsLupus erythematosusMSH6 mutationsMouse modelSingle nucleotide polymorphismsDevelopment of SLELevel of ANAInfiltration of CD68Lupus-like diseaseInflammatory lung diseasesLung alveolar spacesRepair genesMismatch repair genesLung diseaseHealthy controlsPeyer's patchesWildtype miceAlveolar spaceCRISPR/Cas9 gene targetingSomatic hypermutation frequenciesAutoimmune phenotypeMiceDifferent mismatch repair genesSerum and Glucocorticoid‐Inducible Kinase 1 (SGK1): An Important Contributor to Diarrhea and Malabsorption in Microvillus Inclusion Disease (MVID)
Ahsan K, dos Reis D, Barbieri A, Sumigray K, Nottoli T, Salas P, Ameen N. Serum and Glucocorticoid‐Inducible Kinase 1 (SGK1): An Important Contributor to Diarrhea and Malabsorption in Microvillus Inclusion Disease (MVID). The FASEB Journal 2022, 36 DOI: 10.1096/fasebj.2022.36.s1.r5730.Peer-Reviewed Original ResearchMicrovillus inclusion diseaseGlucocorticoid-inducible kinase 1Severe diarrheaF miceInclusion diseaseCystic fibrosis transmembrane conductance regulatorFluid secretionWorsening of diarrheaMicrovillus inclusionsPhosphorylation of PDK1Kinase 1Intestinal lysatesSGK1 pathwayCarbohydrate malabsorptionER miceTamoxifen inductionBeta-ENaCDiarrheaDiarrheal diseaseSmall intestineMalabsorptionMiceDCKO miceGlucose lossPhosphorylation of SGK1
2015
Impaired LRP6-TCF7L2 Activity Enhances Smooth Muscle Cell Plasticity and Causes Coronary Artery Disease
Srivastava R, Zhang J, Go GW, Narayanan A, Nottoli TP, Mani A. Impaired LRP6-TCF7L2 Activity Enhances Smooth Muscle Cell Plasticity and Causes Coronary Artery Disease. Cell Reports 2015, 13: 746-759. PMID: 26489464, PMCID: PMC4626307, DOI: 10.1016/j.celrep.2015.09.028.Peer-Reviewed Original ResearchConceptsCoronary artery diseaseLRP6 activityArtery diseaseObstructive coronary artery diseaseHigh-fat dietVascular smooth muscle cell differentiationMuscle cell plasticitySmooth muscle cell differentiationAtherosclerotic burdenMedial hyperplasiaCarotid injuryArterial diseaseVascular obstructionNeointima formationTherapeutic targetWnt3a administrationIntact WntVSMC differentiationKnockout backgroundDiseaseMiceVessel wallNon-canonical WntCoreceptor LRP6Cell plasticity
2012
Y265C DNA polymerase beta knockin mice survive past birth and accumulate base excision repair intermediate substrates
Senejani AG, Dalal S, Liu Y, Nottoli TP, McGrath JM, Clairmont CS, Sweasy JB. Y265C DNA polymerase beta knockin mice survive past birth and accumulate base excision repair intermediate substrates. Proceedings Of The National Academy Of Sciences Of The United States Of America 2012, 109: 6632-6637. PMID: 22493258, PMCID: PMC3340078, DOI: 10.1073/pnas.1200800109.Peer-Reviewed Original ResearchConceptsDNA polymerase activityWT littermatesKnockin miceMiceMouse embryo fibroblastsChromosomal aberrationsWT mouse embryo fibroblastsNormal Mendelian ratioSlow proliferationPolymerase activityBirthΒ variantCell deathEmbryo fibroblastsWT cellsExcision repair pathwayDNA repair systemsCellular metabolismBase excision repair pathwayFibroblastsHoursHigh levelsHomozygous mutantsKey players
2007
Disruption of cAMP and Prostaglandin E2 Transport by Multidrug Resistance Protein 4 Deficiency Alters cAMP-Mediated Signaling and Nociceptive Response
Lin ZP, Zhu YL, Johnson DR, Rice KP, Nottoli T, Hains BC, McGrath J, Waxman SG, Sartorelli AC. Disruption of cAMP and Prostaglandin E2 Transport by Multidrug Resistance Protein 4 Deficiency Alters cAMP-Mediated Signaling and Nociceptive Response. Molecular Pharmacology 2007, 73: 243-251. PMID: 17959714, PMCID: PMC2780335, DOI: 10.1124/mol.107.039594.Peer-Reviewed Original ResearchConceptsNociceptive responsesPG synthesisInflammatory nociceptive responsesInflammatory pain thresholdWild-type miceCyclooxygenase-2 expressionMrp4 knockout miceMultidrug resistance protein 4Accumulation of intracellularMEF cellsMRP4 knockdownNucleotide agentsPain thresholdDisruptions of cAMPPGE metabolitePG levelsEnergy-dependent effluxProtein 4MiceMRP4PG transportIntracellular levelsProstaglandinsATP-binding cassette (ABC) familyPronounced reduction
2006
Abolished cocaine reward in mice with a cocaine-insensitive dopamine transporter
Chen R, Tilley MR, Wei H, Zhou F, Zhou FM, Ching S, Quan N, Stephens RL, Hill ER, Nottoli T, Han DD, Gu HH. Abolished cocaine reward in mice with a cocaine-insensitive dopamine transporter. Proceedings Of The National Academy Of Sciences Of The United States Of America 2006, 103: 9333-9338. PMID: 16754872, PMCID: PMC1482610, DOI: 10.1073/pnas.0600905103.Peer-Reviewed Original ResearchConceptsRole of DATFunctional dopamine transporterDopamine transporterCocaine rewardSerotonin transporterNorepinephrine transporterExtracellular DAKnockout miceCocaine-insensitive dopamine transporterRole of NETNET knockout miceDAT knockout miceSelf-administer cocaineKnockin mouse lineMouse modelNucleus accumbensDopamine hypothesisPlace preferenceDA hypothesisLocomotor activityReward pathwayBehavioral effectsMiceMouse linesCalcium oxalate urolithiasis in mice lacking anion transporter Slc26a6
Jiang Z, Asplin JR, Evan AP, Rajendran VM, Velazquez H, Nottoli TP, Binder HJ, Aronson PS. Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6. Nature Genetics 2006, 38: 474-478. PMID: 16532010, DOI: 10.1038/ng1762.Peer-Reviewed Original ResearchConceptsCalcium oxalate urolithiasisOxalate urolithiasisPlasma oxalate concentrationIntestinal oxalate secretionUrinary oxalate concentrationCommon urologic diseaseNet intestinal absorptionAnion exchanger SLC26A6Dietary oxalate restrictionSlc26a6-null miceSignificant hyperoxaluriaOxalate restrictionUrologic diseasesHigh incidenceIntestinal absorptionExchanger SLC26A6Mutant miceUrolithiasisMiceMajor constitutive roleNet absorptionOxalate secretionHyperoxaluriaOxalate concentrationEpithelial tissues