grant
IMPDH1 in photoreceptor function and disease
Organization UNIVERSITY OF WASHINGTONLocation SEATTLE, UNITED STATESPosted 1 Jun 2024Deadline 29 Feb 2028
NIHUS FederalResearch GrantFY20265'-Inosinic acidAdenine NucleotidesAdenosine PhosphatesAllosteric RegulationAnabolismAnimalsAntibody SpecificityAssayAutoregulationBioassayBiochemicalBiochemistryBiologic ModelsBiologicalBiological AssayBiological ChemistryBiological ModelsBlindnessBody TissuesBrachydanio rerioCell BodyCell FunctionCell PhysiologyCell ProcessCellsCellular FunctionCellular PhysiologyCellular ProcessCellular biologyCollectionCone PhotoreceptorsCryo-electron MicroscopyCryoelectron MicroscopyDNA BindingDNA Binding InteractionDNA boundDNA mutationDanio rerioDataDegenerative DisorderDehydrogenasesDeteriorationDiseaseDisorderDissectionElectron CryomicroscopyEnergy ExpenditureEnergy MetabolismEngineeringEnzyme GeneEnzyme InhibitionEnzymesEquilibriumExploratory/Developmental Grant for Diagnostic Cancer ImagingEyeEyeballFilamentGene TranscriptionGeneticGenetic ChangeGenetic TranscriptionGenetic defectGenetic mutationGenomeGuanine NucleotidesGuanosine PhosphatesHealthHereditaryHereditary DiseaseHomeostasisHumanImmune PrecipitationImmunofluorescenceImmunofluorescence ImmunologicImmunoprecipitationIn SituIn VitroInborn Genetic DiseasesInheritedInherited disorderInosine MonophosphateIntermediary MetabolismKO miceKnock-outKnock-out MiceKnockoutKnockout MiceLightLinkMetabolicMetabolic ProcessesMetabolismMethodsMissense MutationMitochondriaMitochondrial DNAModel SystemModelingModern ManMolecularMutationNon-Polyadenylated RNANucleotide BiosynthesisNucleotide SynthesisNucleotidesNull MouseOxidoreductaseOxidoreductase GenePathway interactionsPatientsPhenotypePhotoradiationPhotoreceptor CellPhotoreceptorsPhotosensitive CellPhysiologicPhysiologicalPhysiological HomeostasisPolymersPositionPositioning AttributePropertyProteinsPurine Metabolism PathwayPurine NucleotidesPurinesPurines/Pyrimidines/Nucleotides/Nucleic Acids MetabolismR21 AwardRNARNA ExpressionRNA Gene ProductsRalDH1ReagentReductasesRegulationReporterRetinaRetinal ConeRetinal DegenerationRetinal DiseasesRetinal DisorderRetinal DystrophyRibonucleic AcidRibosylhypoxanthine MonophosphateRods and ConesRoleSignaling MoleculeSingle-Stranded DNAStructureSubcellular ProcessTissuesTranscriptionTransgenic OrganismsTranslationsVariantVariationVertebrate PhotoreceptorsVisual ReceptorZebra DanioZebra FishZebrafishautosomal dominant mutationbalancebalance functionbiologicbiosynthesisblindcell biologycell typecircadiancone cellcryo-EMcryoEMcryogenic electron microscopydegenerative conditiondegenerative diseasedegenerative retina diseasesdisease modeldisorder modelenergy balanceenzyme activitygain of functiongenome mutationhereditary disorderheritable disorderhigh definitionhigh-resolutionhuman diseasein vivoinborn errorinherited diseasesinherited genetic diseaseinherited genetic disorderinterdisciplinary approachmissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmitochondrialmtDNAmultidisciplinary approachmutantnucleotide metabolismpathwayphotoreceptor degenerationpolymerpolymericprotein expressionpurine metabolismretina degenerationretina diseaseretina disorderretinal degenerativeretinal degenerative diseasesretinal dehydrogenase 1retinopathysocial rolessDNAstructural biologytooltransgenictranslationvision lossvisual loss
Description preview
PROJECT SUMMARY
Although purine nucleotide homeostasis is critical to photoreceptor health, basic aspects of purine metabo-
lism and its regulation in photoreceptors are unknown. Here, we analyze the critical role of inosine monophos-
phate dehydrogenase 1 (IMDPH1) in retinal function and disease. IMPDH1 catalyzes and regulates a critical
step in…
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