grant
Polycystin-1 C terminal tail cleavage: Mechanisms and meaning
NIHUS FederalResearch GrantFY2025ADPKDAddressAdult Polycystic Kidney DiseaseAffectAllelesAllelomorphsAmino AcidsAnimal ModelAnimal Models and Related StudiesAutosomal Dominant Polycystic KidneyAutosomal Dominant Polycystic Kidney DiseaseBiologyC-terminalCationsCell FunctionCell NucleusCell PhysiologyCell ProcessCellular FunctionCellular PhysiologyCellular ProcessCiliaComplexCystDNA mutationDevelopmentDiseaseDisorderDominant Polycystic Kidney DiseaseDysfunctionESKDESRDEnd stage renal failureEnd-Stage Kidney DiseaseEnd-Stage Renal DiseaseEndoplasmic ReticulumEnergy ExpenditureEnergy MetabolismEnergy-Linked TranshydrogenaseEnzyme GeneEnzymesErgastoplasmEventFamilyFunctional disorderFutureGenerationsGenesGenetic ChangeGenetic DiseasesGenetic defectGenetic mutationIndividualInjury to KidneyInner mitochondrial membraneIntermediary MetabolismInvestigationKidneyKidney Urinary SystemKnock-outKnockoutLiquid substanceMembraneMembrane PotentialsMembrane Protein GeneMembrane ProteinsMembrane-Associated ProteinsMetabolicMetabolic ProcessesMetabolismMiceMice MammalsMitochondriaMitochondrial Membrane ProteinMitochondrial TranshydrogenaseModelingMurineMusMutationNAD TranshydrogenaseNAD(P)+ transhydrogenaseNADP TranshydrogenaseNADPH NAD TranshydrogenaseNADPH TransferaseNatureNephronsNicotinamide Nucleotide TranshydrogenaseNucleusOxygen ConsumptionPKD1 proteinPKD2 proteinPathogenesisPathologyPathway interactionsPersonsPhenotypePhysiologicPhysiologicalPhysiopathologyPolycystic KidneyPolycystic Kidney DiseasesProcessProductionPropertyProteinsPyridine Nucleotide TranshydrogenaseRenal functionResting PotentialsRoleSeverity of illnessSiteStructureSubcellular ProcessSurface ProteinsTailTestingTranshydrogenaseTransmembrane PotentialsUriniferous Tubeaminoacidautosomedevelopmentaldisease durationdisease lengthdisease severityexperimentexperimental researchexperimental studyexperimentsfluidgenetic conditiongenetic disordergenome mutationillness lengthin vivoinducible expressioninducible gene expressioninjury responseinsightkidney functionkidney injuryliquidmembermembrane structuremitochondrialmitochondrial membranemodel of animalmouse modelmurine modelnew drug targetnew druggable targetnew pharmacotherapy targetnew therapeutic targetnew therapy targetnovel drug targetnovel druggable targetnovel pharmacotherapy targetnovel therapeutic targetnovel therapy targetpathophysiologypathwaypcy proteinpolycystic breakpoint proteinpolycystic kidney disease 1 proteinpolycystic kidney disease 2 proteinpolycystin 1polycystin 2preservationprotein functionrenalrenal injuryresponseresponse to injurysocial roletargeted drug therapytargeted drug treatmentstargeted therapeutictargeted therapeutic agentstargeted therapytargeted treatmenttherapeutic agent developmenttherapeutic developmenttransgene expression
Description preview
Summary
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common
potentially lethal genetic disorders, affecting ~1:1,000 people and producing end stage renal
disease in 50% of affected individuals. The disease is characterized by the formation of nephron-
derived fluid-filled cysts, whose initiation and expansion…
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