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The role of TTC7A in apical lumen formation and polarized trafficking in the intestinal epithelium
Organization BOSTON CHILDREN'S HOSPITALLocation BOSTON, UNITED STATESPosted 1 Dec 2022Deadline 30 Nov 2025 ⚠️
NIHUS FederalResearch GrantFY20251-Phosphatidylinositol 4-Kinase3-D3-Dimensional3D7S Gamma GlobulinAddressAffectAgeAlimentary CanalApicalApoptoticApplications GrantsArchitectureAssayAutomobile DrivingBioassayBiological AssayBiologyBody TissuesCaCo2Caco-2 CellsCausalityCell BodyCell Growth and MaintenanceCell LineCell MaintenanceCell PolarityCell membraneCellLineCellsCellular MembraneChaperoneCholera Enterotoxin CTCholera ExotoxinCholera ToxinCholeragenCystCytoplasmic MembraneDNA mutationDefectDevelopmentDevelopment PolarityDevelopmental BiologyDiarrheaDigestive TractDimerizationDiseaseDisorderDysfunctionEC 2.7.1.67Endoplasmic ReticulumEndosomesEngineering / ArchitectureEnterocolitisEnterocytesEpithelial CellsEpitheliumErgastoplasmEtiologyFcRnFcRn neonatal transfer proteinFunctional disorderGI TractGastrointestinal DiseasesGastrointestinal TractGastrointestinal tract structureGenerationsGenesGenetic ChangeGenetic defectGenetic mutationGlandGoalsGolgiGolgi ApparatusGolgi ComplexGrant ProposalsGut EpitheliumHeterozygoteIgGImageImmuneImmunesImmunoglobulin GInflammatory Bowel DiseasesInflammatory Bowel DisorderInositide PhospholipidsInositol PhosphoglyceridesInositol PhospholipidsIntestinalIntestinal AtresiaIntestinesKST geneKST proteinKinasesKnowledgeLabelLigandsLightLipidsLocationMapsMediatingMembraneMembrane Protein GeneMembrane ProteinsMembrane-Associated ProteinsModelingMolecular ChaperonesMonitorMovementMutationNPIKOrganOrganoidsPI 4-KinasePI4PI4K92PI4KBetaPathologyPathway interactionsPatientsPhenotypePhosphatesPhosphatidyl InositolPhosphatidylinositiol KinasePhosphatidylinositol 4-KinasePhosphatidylinositol 4-Kinase BetaPhosphatidylinositol 4-Kinase, Catalytic, BetaPhosphatidylinositol 4-Kinase, Type III, BetaPhosphatidylinositol Kinase Type IIPhosphatidylinositolsPhosphoinositide KinasePhosphoinositide-4-Kinase Catalytic Beta PolypeptidePhosphoinositidesPhosphorylationPhosphotransferase GenePhosphotransferasesPhotoradiationPhysiopathologyPlasma MembraneProcessProductionProtease Inhibitor 4Protein DimerizationProtein PhosphorylationProteinsPtdInsPtdIns 4-KinaseReceptor ProteinReceptosomesRecyclingResolutionRoleSERPINA4SERPINA4 geneScaffolding ProteinSiteSortingSourceSpace PerceptionSpatial DiscriminationSpecialized Epithelial CellStrains Cell LinesSurface ProteinsSymptomsTestingTherapeuticTissue Kallikrein InhibitorTissuesTrainingTranslatingTransphosphorylasesWortmannin-Sensitive Phosphatidylinositol 4-Kinaseagesalimentary tractapical membranebasolateral membranebody movementbowelbowel inflammationcausationcellular polaritycultured cell linedevelopmentaldigestive canaldisease causationdrivingexperimentexperimental researchexperimental studyexperimentsgastrointestinal disordergastrointestinal epitheliumgenome mutationgut inflammationheterozygosityhuman diseaseimagingin vivoinfancyinfantileinflamed bowelinflamed gutinflamed intestineinflammatory disease of the intestineinflammatory disorder of the intestineinorganic phosphateintestinal autoinflammationintestinal epitheliumintestinal inflammationkallistatinknock-downknockdownloss of functionloss of function mutationmembrane structuremonolayermutantneonatal Fc receptornew technologynovelnovel technologiespathophysiologypathwayperceptual spatial orientationplasmalemmapolarized cellprotein complexreceptorresolutionsscaffoldscaffoldingsocial rolespatial and temporalspatial orientationspatial perceptionspatial temporalspatiotemporalthree dimensionaltraffickingtranscytosis
Applications closed.
Description preview
PROJECT SUMMARY
The goal of this grant application is to understand how mutations in tetratricopeptide repeat domain 7a (TTC7A)
affect formation of the polarized apical membrane; and how these mutations cause human disease. TTC7A loss
of function mutations result in severe infantile-onset gastrointestinal disease, with phenotypes related to both…
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