grant
SORL1 and its involvement in Alzheimer's disease pathogenesis and pathophysiology - Project 4
Organization COLUMBIA UNIVERSITY HEALTH SCIENCESLocation NEW YORK, UNITED STATESPosted 15 Sept 2025Deadline 31 May 2030
NIHUS FederalResearch GrantFY2025AD dementiaAPLP1APLP1 geneAffectAge MonthsAlzheimer Type DementiaAlzheimer beta-ProteinAlzheimer disease dementiaAlzheimer sclerosisAlzheimer syndromeAlzheimer'sAlzheimer's Amyloid beta-ProteinAlzheimer's DiseaseAlzheimer's amyloidAlzheimer's biomarkerAlzheimer's disease biological markerAlzheimer's disease patientAlzheimer's patientAlzheimers DementiaAlzheimer’s biological markerAlzheimer’s disease biomarkerAmyloidAmyloid Alzheimer's Dementia Amyloid ProteinAmyloid Beta-PeptideAmyloid Protein A4Amyloid SubstanceAmyloid beta-ProteinAmyloid βAmyloid β-PeptideAmyloid β-ProteinArchitectureAssayAstrocytesAstrocytusAstrogliaAstroproteinAβBioassayBiochemicalBiologicalBiological AssayBiological MarkersBiologyBlood PlasmaC1 qC1qCell DifferentiationCell Differentiation processClinical Trials DesignCodeCoding SystemCollaborationsCommunitiesComplement 1qComplement C1qConditioned Culture MediaConditioned MediumDNA mutationDevelopmentDiagnosisDiseaseDisorderDysfunctionELISAEndosomesEngineering / ArchitectureEnzyme-Linked Immunosorbent AssayFunctional disorderFutureGFA-ProteinGFAPGenesGeneticGenetic ChangeGenetic defectGenetic mutationGenetic studyGlial Fibrillary Acid ProteinGlial Fibrillary Acidic ProteinGlial Intermediate Filament ProteinGoalsHortega cellHumanImmune responseImmunoassayImmunoblottingIn VitroKnowledgeLinkLiquid ChromatographyMT-bound tauMeasuresMediatingMiceMice MammalsMicrogliaMissense MutationModelingModern ManMolecularMurineMusMutationNerve CellsNerve UnitNeural CellNeurocyteNeuronsP01 MechanismP01 ProgramPathogenesisPathogenicityPatientsPhenocopyPhysiopathologyPilot ProjectsPlasmaPlasma SerumPopulationPrimary Senile Degenerative DementiaProgram Project GrantProgram Research Project GrantsPropertyProteinsProteomicsReceptor ProteinReceptosomesRecyclingResearch Program ProjectsReticuloendothelial System, Serum, PlasmaSystemTechnologyTestingTimeTransgenic MiceTransgenic OrganismsVariantVariationWestern BlottingWestern Immunoblottinga beta peptideabetaamyloid betaamyloid-b proteinastrocytic gliabeta amyloid fibrilbio-markersbiologicbiologic markerbiomarkerbiomarker arraybiomarker panelbiomarker signaturecandidate identificationcellular differentiationdesigndesigningdevelopmentalenzyme linked immunoassayexperimentexperimental researchexperimental studyexperimentsgenome mutationgitter cellhiPSChigh riskhost responsehuman iPShuman iPSChuman induced pluripotent cellhuman induced pluripotent stem cellshuman inducible pluripotent stem cellshuman inducible stem cellsimmune system responseimmunoresponsein vivoinduced human pluripotent stem cellsinsightloss of function mutationmarker panelmembermesogliamicroglial cellmicrogliocytemicrotubule bound taumicrotubule-bound taumissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmouse modelmurine modelneuronalnew markernovelnovel biomarkernovel markerp-taup-τpathophysiologypatient living with Alzheimer's diseasepatient suffering from Alzheimer's diseasepatient with Alzheimer'spatient with Alzheimer's diseaseperivascular glial cellphospho-tauphospho-τphosphorylated taupilot studypost-translational modification of tauposttranslational modification of tauprimary degenerative dementiaprogramsprotein blottingreceptorsenile dementia of the Alzheimer typesingle moleculesoluble amyloid precursor proteinsortilinspecific biomarkerstandem mass spectrometrytautau Proteinstau factortau phosphorylationtau posttranslational modificationtau-1timelinetraffickingtransgenictranslational opportunitiestranslational potentialτ Proteinsτ phosphorylation
Description preview
PROJECT 4 SUMMARY
Recent genetic studies have established that rare loss-of-function mutations in the Sortilin-related
Receptor 1 (SORL1) gene confer extremely high risk for developing Alzheimer’s disease (AD). Currently, over
500 known coding variants in SORL1 have been described, although the pathogenicity of these variants and
how they impact…
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