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 regulatorSerum 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
2018
Establishment of Microvillus Inclusion Disease (MVID) human models using small intestinal enteroids and embryonic stem cells
Figueroa‐Hall L, Ameen N. Establishment of Microvillus Inclusion Disease (MVID) human models using small intestinal enteroids and embryonic stem cells. The FASEB Journal 2018, 32: 750.31-750.31. DOI: 10.1096/fasebj.2018.32.1_supplement.750.31.Peer-Reviewed Original ResearchMicrovillus inclusion diseaseHuman intestinal modelSmall intestineIntestinal modelSeverity of illnessIntestinal organoidsSmall intestinal modelProximal small intestineCancer-derived cell linesFull-text articlesDevelopment of therapiesStem cellsIntestinal cell modelSmall intestinal organoidsIntestinal enteroidsInclusion diseasePathognomonic featuresSecretory diarrheaEpithelial diseaseHuman embryonic stem cellsIntestinal tissueIntestine resultsTransporter traffickingAppropriate research modelsLentiviral transfection
2016
Identification of intestinal ion transport defects in microvillus inclusion disease
Kravtsov DV, Ahsan MK, Kumari V, van Ijzendoorn SC, Reyes-Mugica M, Kumar A, Gujral T, Dudeja PK, Ameen NA. Identification of intestinal ion transport defects in microvillus inclusion disease. AJP Gastrointestinal And Liver Physiology 2016, 311: g142-g155. PMID: 27229121, PMCID: PMC4967175, DOI: 10.1152/ajpgi.00041.2016.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingCaco-2 CellsChloride-Bicarbonate AntiportersCystic Fibrosis Transmembrane Conductance RegulatorEnterocytesGene Expression RegulationHumansIon TransportJejunumMalabsorption SyndromesMembrane Transport ProteinsMicrovilliMucolipidosesMyosin Heavy ChainsMyosin Type VPhenotypePhosphoproteinsRNA InterferenceSignal TransductionSodium-Hydrogen Exchanger 3Sodium-Hydrogen ExchangersSulfate TransportersTranscription FactorsTransfectionYAP-Signaling ProteinsConceptsMicrovillus inclusion diseaseStool lossVillus atrophyInclusion diseaseEnterocyte maturationMicrovillus inclusionsIntestinal fluid transportIntestinal cell modelIon transport defectImmunohistochemical stainingSecretory diarrheaBrush border defectsImmature enterocytesC2BBe cellsT84 cellsElectrophysiological approachesCFTR ion transportBB membraneLoss of MYO5BEnterocytesFunctional CFTRDiarrheaAtrophyFunction mutationsCFTR localization
2000
Microvillus Inclusion Disease: A Genetic Defect Affecting Apical Membrane Protein Traffic in Intestinal Epithelium
Ameen N, Salas P. Microvillus Inclusion Disease: A Genetic Defect Affecting Apical Membrane Protein Traffic in Intestinal Epithelium. Traffic 2000, 1: 76-83. PMID: 11208062, DOI: 10.1034/j.1600-0854.2000.010111.x.Peer-Reviewed Original ResearchConceptsMicrovillus inclusion diseaseApical membrane trafficMembrane protein trafficVacuolar apical compartmentApical membrane markersMicrovillus inclusionsF-actin layerBasolateral proteinsFirst genetic defectMembrane trafficTissue culture epithelial cellsProtein trafficApical exocytosisLater stepsApical membraneMembrane markersTerminal webImmunofluorescence analysisApical cytoplasmGenetic defectsEpithelial cellsProteinApical compartmentIntestinal epitheliumNormal microtubules