grant
Protein Trafficking In The Endosomal-Lysosomal System
Organization EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENTLocation UNITED STATES
NIHUS FederalResearch GrantFY20250-11 years old1-Phosphatidylinositol 4-KinaseAP-2 Adaptor (Clathrin-Coated Vesicles)AP-2 Protein ComplexARM DomainActive Biologic TransportActive Biological TransportActive TransportAdaptor ProteinAdaptor Protein Complex 2Adaptor Protein Complex SubunitsAdaptor Protein GeneAdaptor Protein SubunitsAdaptor Signaling ProteinAdaptor Signaling Protein GeneAdaptor-Related Protein Complex 2AffectAllelesAllelomorphsArmadillo RepeatArmadillo/Beta-Catenin-Like RepeatAssayAtrophicAtrophyAutophagocytosisAutoregulationAxonBeta-Catenin Binding RepeatBeta-Catenin-Binding DomainBeta-Catenin-Like RepeatBindingBioassayBiochemicalBiogenesisBiological AssayBiotinylationBirth DefectsBlood PlateletsBrain regionCD71CNS Nervous SystemCell BodyCell Communication and SignalingCell SignalingCell membraneCellsCentral Nervous SystemChildChild YouthChildhoodChildren (0-21)Children's HospitalClathrinClathrin Adaptor Protein Complex 2Clathrin Assembly Protein Complex 2ClinicalCollaborationsComplexCongenital AbnormalityCongenital Anatomical AbnormalityCongenital DefectsCongenital DeformityCongenital DisordersCongenital MalformationCorpus CallosumCorpus CallosumsCortical CordCytoplasmCytoplasmic GranulesCytoplasmic MembraneDNA mutationDecreased Muscle ToneDefectDegenerative Neurologic DisordersDevelopmentDiseaseDisorderDistalDysarthosisDysarthriaEC 2.7.1.67EEGElectroencephalogramElectroencephalographyEndocytosisEndoplasmic ReticulumEndosomesEpithelial CellsErgastoplasmEukaryotic CellEventExtremitiesFaceFamilyGOLPH3GOLPH3 geneGTP BindingGTP PhosphohydrolasesGTP boundGTPasesGene variantGenesGeneticGenetic ChangeGenetic defectGenetic mutationGliaGlial CellsGlycansGoalsGolgiGolgi ApparatusGolgi ComplexGolgi Phosphoprotein 3Guanosine Triphosphate PhosphohydrolasesGuanosinetriphosphatasesHA-2 AdaptorsHMSN Type VHereditary Motor-Sensory Neuropathy with Pyramidal SignsHereditary Spastic ParaplegiaHermanski-Pudlak SyndromeHermansky Pudlak syndromeHomeostasisHydroxyapatite 2 AdaptorsHypomyotoniaHypotoniaImpairmentInduced pluripotent stem cell derived human neuronIntegral Membrane ProteinIntellectual disabilityIntellectual functioning disabilityIntellectual limitationIntracellular Communication and SignalingIntrinsic Membrane ProteinKeratodermaKinesinKnock-outKnockoutKnowledgeKolliker's reticulumLaboratoriesLeannessLesionLimb structureLimbsLinkLipidsLower ExtremityLower LimbLysosomesMacromolecular Protein ComplexesMaintenanceMaliMarrow plateletMediatingMedulla SpinalisMelanosomesMembraneMembrum inferiusMessenger RNAMiceMice MammalsMicro-tubuleMicrotubulesMissense MutationMitochondriaMolecularMolecular InteractionMonomeric G-ProteinsMonomeric GTP-Binding ProteinsMotorMultiprotein ComplexesMurineMusMuscle AtrophyMuscle HypotonyMuscle Tone PoorMuscle hypotoniaMuscular AtrophyMuscular HypotoniaMutationNINDSNPIKNSF attachment protein receptorNamesNational Institute of Neurological Diseases and StrokeNational Institute of Neurological Disorders and StrokeNerve CellsNerve DegenerationNerve UnitNervous System Degenerative DiseasesNetwork AnalysisNeural CellNeural Degenerative DiseasesNeural degenerative DisordersNeuraxisNeurocyteNeurodegenerative DiseasesNeurodegenerative DisordersNeurodevelopmental DisorderNeurogliaNeuroglial CellsNeurologicNeurologic Degenerative ConditionsNeurologicalNeurological Development DisorderNeuron DegenerationNeuronsNon-Polyadenylated RNANon-TrunkNon-neuronal cellNonneuronal cellOncogene ProductsOncogene ProteinsOncoproteinsOptic AtrophyOrganellesOrganism-Level ProcessOrganismal ProcessOrigin of LifeOxidative PhosphorylationOxidative Phosphorylation PathwayPI 4-KinasePI4K92PI4KBetaPNS DiseasesPathogenesisPathogenicityPathway AnalysisPathway interactionsPatientsPatternPediatric HospitalsPeripheralPeripheral Nerve DiseasesPeripheral Nervous System DiseasesPeripheral Nervous System DisordersPeripheral NeuropathyPhiladelphiaPhosphatidylinositiol KinasePhosphatidylinositol 4-KinasePhosphatidylinositol 4-Kinase BetaPhosphatidylinositol 4-Kinase, Catalytic, BetaPhosphatidylinositol 4-Kinase, Type III, BetaPhosphatidylinositol Kinase Type IIPhosphoinositide KinasePhosphoinositide-4-Kinase Catalytic Beta PolypeptidePhysiologic ProcessesPhysiological HomeostasisPhysiological ProcessesPlasma MembranePlateletsPlayPolysaccharidesPopulationProductionProtein SortingsProtein TraffickingProteinsPtdINS4PPtdIns 4-KinaseRNARNA Gene ProductsRNA SplicingRNA TransportReceptosomesRecyclingRegulationReportingResearchRibonucleic AcidRibonucleic Acid TransportRibosomesRoleSNAP receptorSNARESeizuresSignal TransductionSignal Transduction SystemsSignalingSiteSmall G-ProteinsSmall GTPasesSortingSpastic Paraplegia-Hypertrophic Motor-Sensory NeuropathySpinal CordSplicingSupratentorial AnatomySupratentorial BrainSupratentorial Nervous SystemSurfaceSyndromeSystemTFR geneTFR proteinTFR1TFRCTFRC geneTRFRThinnessThrombocytesTranscriptTransferrin ReceptorTransferrin Receptor 1TranslationsTransmembrane ProteinTransmembrane Protein GeneTubularTubular formationType V Hereditary Motor and Sensory NeuropathyTyrosineUniversitiesUphill TransportVariantVariationVesicleWorkWortmannin-Sensitive Phosphatidylinositol 4-Kinaseadapter proteinallelic variantanterograde transportautophagyautosomeaxonal degenerationaxonopathybasebasesbiological signal transductionbrain MR imagingbrain MRIbrain magnetic resonance imagingcerebral MR imagingcerebral MRIcerebral magnetic resonance imagingdeafnessdegenerative axondegenerative diseases of motor and sensory neuronsdegenerative neurological diseasesdevelopmentalearly onsetexome sequencingexome-seqfacesfacialfundamental researchgene locusgenetic diagnosisgenetic disorder diagnosisgenetic locusgenetic variantgenome mutationgenomic locationgenomic locusgenomic variantglobal developmental delaygranuleguanosinetriphosphatasehiPSC-derived neuronshuman iPSC-derived sensory neuronhuman induced pluripotent stem cell derived sensory neuroniPSC-derived human neuronindexinginducible pluripotent stem cell derived human neuroninducible pluripotent stem cell derived human sensory neuroninfancyinfantileinsightintellectual and developmental disabilitykidslimited intellectual functioningloss of functionmRNAmembrane structuremissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmitochondrialmitochondrial dysfunctionmuscle breakdownmuscle degradationmuscle deteriorationmuscle lossmuscle wastingnamenamednamingnerve cementneural cell bodyneural degenerationneurodegenerationneurodegenerativeneurodegenerative illnessneurodevelopmental diseaseneurogeneticsneurological degenerationneuronalneuronal cell bodyneuronal degenerationneurons differentiated from human induced pluripotent stem cellsnovelpathwaypediatricphosphatidylinositol 4-monophosphatephosphatidylinositol 4-phosphateplasmalemmapolarized cellpreventpreventingprotein complexprotein expressionprotein transportrecruitretrograde transportsocial rolesoluble N-ethylmaleimide-sensitive-factor attachment protein receptorsomaspasticitytraffickingtrans-Golgi Networktranslationyoungster
Description preview
Our laboratory investigates the molecular mechanisms that govern the sorting of transmembrane proteins (cargo) to distinct compartments within the endomembrane system of eukaryotic cells. These compartments include the endoplasmic reticulum (ER), Golgi apparatus, trans-Golgi network (TGN), endosomes, lysosomes, lysosome-related organelles (LROs)…
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