grant
Disease Pathogenesis and Modification for CaV1.1-Associated Hypokalemic Periodic Paralysis
Organization UNIVERSITY OF CALIFORNIA LOS ANGELESLocation LOS ANGELES, UNITED STATESPosted 1 Jul 2012Deadline 30 Nov 2028
NIHUS FederalResearch GrantFY2025AblationAcuteAddressAgonistAllelesAllelomorphsArginineAssayAttenuatedBioassayBiological AssayBiophysicsBloodBlood Reticuloendothelial SystemBlood SerumCRISPR approachCRISPR based approachCRISPR methodCRISPR methodologyCRISPR techniqueCRISPR technologyCRISPR toolsCRISPR-CAS-9CRISPR-based methodCRISPR-based techniqueCRISPR-based technologyCRISPR-based toolCRISPR/CAS approachCRISPR/Cas methodCRISPR/Cas technologyCRISPR/Cas9CRISPR/Cas9 technologyCalcium ChannelCalcium Channel Antagonist ReceptorCalcium Channel Blocker ReceptorsCalcium Ion ChannelsCarbohydratesCarbonate Dehydratase InhibitorsCarbonic Anhydrase InhibitorsCarboxyanhydrase InhibitorsCas nuclease technologyClinical ManagementClustered Regularly Interspaced Short Palindromic Repeats approachClustered Regularly Interspaced Short Palindromic Repeats methodClustered Regularly Interspaced Short Palindromic Repeats methodologyClustered Regularly Interspaced Short Palindromic Repeats techniqueClustered Regularly Interspaced Short Palindromic Repeats technologyComputer ModelsComputerized ModelsD-GlucoseDNA TherapyDNA mutationDataDecline in mobilityDecrease in mobilityDecreased mobilityDefectDextroseDiminished mobilityDiseaseDisorderDominant Genetic ConditionsDominant traitDrug TherapyExerciseExtravasationFailureFamilial Hypokalemic Periodic ParalysisFamilyFiberGene AlterationGene MutationGene Transfer ClinicalGenesGenetic ChangeGenetic DominantGenetic InterventionGenetic defectGenetic mutationGlucoseH+ elementHereditaryHereditary DiseaseHourHumanHumulin RHydrogen IonsHypokalemiaHypokalemic periodic paralysisHypopotassemiaInborn Genetic DiseasesInfusionInfusion proceduresIngestionInheritedInherited disorderInsulinInterventionIonsK channelKI miceKnock-inKnock-in MouseL-ArginineLeakageLife StyleLifestyleMembraneMiceMice MammalsMissense MutationMobility declineMobility impairmentModern ManModificationMolecularMonitorMurineMusMuscleMuscle DiseaseMuscle DisordersMuscle TissueMuscle WeaknessMuscle functionMuscular DiseasesMuscular WeaknessMutationMyopathic ConditionsMyopathic Diseases and SyndromesMyopathic disease or syndromeMyopathyNovolin RPathogenesisPatientsPharmacological TreatmentPharmacotherapyPhenotypePoint MutationPotassium ChannelPotassium Ion ChannelsPreclinical TestingPredispositionPreventionPrimary Hypokalemic Periodic ParalysisProtonsQOLQuality of lifeRecoveryRecurrenceRecurrentReduced mobilityReduction in mobilityRegular InsulinResearch ResourcesResourcesRestRiskSerumSkeletal MuscleSodium ChannelSodium Ion ChannelsSpillageStressSusceptibilityTestingTherapeutic InterventionTimeTreatment EfficacyVDCCValidationVoltage-Dependent Calcium ChannelsVoluntary Muscleantagonismantagonistattenuateattenuatesbase editorbiophysical foundationbiophysical principlesbiophysical sciencescomputational modelingcomputational modelscomputer based modelscomputerized modelingdesigndesigningdetermine efficacydrug interventiondrug treatmentefficacy analysisefficacy assessmentefficacy determinationefficacy evaluationefficacy examinationefficacy testingevaluate efficacyexamine efficacygain of functiongene defectgene editing methodgene editing methodologygene editing platformgene editing strategygene editing systemgene editing techniquesgene editing technologygene editing toolsgene repair therapygene therapygene-based therapygene-editing approachgene-editing toolkitgenetic therapygenome mutationgenomic therapyhereditary disorderheritable disorderimprovedin vivoinborn errorinfusionsingestinherited diseasesinherited genetic diseaseinherited genetic disorderinhibitorinsightintervention efficacyintervention therapykindredknockinknockin micemanage symptommembrane structuremissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmouse modelmurine modelmuscularmuscular disordermutantmutant allelemutant mouse modelmutation correctionnew approachesnovel approachesnovel strategiesnovel strategypharmaceutical interventionpharmacologicpharmacological interventionpharmacological therapypharmacology interventionpharmacology treatmentpharmacotherapeuticspre-clinicalpre-clinical testingpreclinicalpreservationpreventpreventingrational designresponsesensorside effectsimulationsymptom managementtherapeutic efficacytherapy efficacyvalidationsvoltage
Description preview
Hypokalemic periodic paralysis (HypoPP) is a dominantly inherited disorder of skeletal muscle in which recurrent
attacks of weakness are caused by intermittent failure of fiber excitability. Episodes occur in association with
hypokalemia (K+ < 3 mM) and are often triggered by carbohydrate ingestion, exercise, or stress. The molecular
defect in…
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