grant
Functional and biochemical analysis of RNA exosome variants linked to neurological disorders
NIHUS FederalResearch GrantFY20261,2,3-Propanetriol1,2,3-TrihydroxypropaneAffectAffinity ChromatographyAmino AcidsAssayAtaxiaAtaxyBaker's YeastBioassayBiochemicalBiologic ModelsBiological AssayBiological ModelsBody SystemBody TissuesBrewer's YeastBudding YeastCRISPRCRISPR/Cas systemCardiacCardiac AbnormalitiesCell BodyCell Migration AssayCellsCellular ExpansionCellular GrowthCerebellar AtaxiaCerebellar IncoordinationCerebellar hypoplasiaChildhoodClinicalClustered Regularly Interspaced Short Palindromic RepeatsComplexCongenital cerebellar hypoplasiaCoordination ImpairmentCoupledDNA mutationDefectDevelopmentDiseaseDisorderDysfunctionDyssynergiaEndomycetalesEndoribonucleasesFunctional disorderGene ExpressionGenesGeneticGenetic ChangeGenetic ScreeningGenetic defectGenetic mutationGlycerinGlycerolGrowth Suppressor GenesHeart AbnormalitiesImmunoblottingIndividualLeadLinkLocationMicrocephalyMigration AssayMissense MutationModel SystemModelingMolecularMotor CellMotor NeuronsMutationMyocardial depressionMyocardial dysfunctionNervous System DiseasesNervous System DisorderNeurodevelopmental DisorderNeurologicNeurologic DisordersNeurologicalNeurological Development DisorderNeurological DisordersNon-Polyadenylated RNANorthern BlottingNorthern BlottingsOrgan SystemOrthologOrthologous GeneOutcomePathogenicityPathologyPathway interactionsPatientsPb elementPhenotypePhysiopathologyPlayPontocerebellar hypoplasiaPositionPositioning AttributeProcessProteinsRNARNA Gene ProductsRNA NucleasesRNA ProcessingRNA SeqRNA analysisRNA blot analysisRNA blot hybridizationRNA blottingRNA endonucleaseRNA sequencingRNA-Binding ProteinsRNAseqRNaseRibonuclease Family ProteinRibonucleasesRibonucleic AcidRibosomal RNARiskRoleS cerevisiaeS. cerevisiaeSaccharomyces cerevisiaeSaccharomycetalesSecond-Site Suppressor GenesSeriesSeveritiesSuppressor GenesSymptomsSystemTestingTissuesTrainingTranslationsVariantVariationWestern BlottingWestern ImmunoblottingYeast Model Systemaffinity purificationalpha helixaminoacidautosomebasebasesbrain abnormalitiescardiac dysfunctioncell growthcell typeclinical phenotypecofactorcomparativedevelopmentaldevelopmental diseasedevelopmental disorderdisease modeldisorder modelexosomeexperimentexperimental researchexperimental studyexperimentsgenome mutationgenome scalegenome-widegenomewideheart dysfunctionheavy metal Pbheavy metal leadhuman diseaseinhibitorinsightmicrencephalymicroencephalymissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmotoneuronmutantmutation assayneurodevelopmental diseaseneurological diseasenorthern hybridizationnovelpathophysiologypathwaypediatricprotein blottingprotein structureprotein structuresproteins structurerRNAresponsesocial rolestressorsudden cardiac deathtranscriptome sequencingtranscriptomic sequencingtranscriptomicstranslationyeast geneticsyeast modelα-helix
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Project Summary
Over 300 million individuals worldwide are affected by developmental disorders. Many such disorders arise from
dysfunction of RNA-binding proteins and regulatory factors that play general roles in gene expression but often
cause pathology within specific organ systems. An example of a critical RNA processing factor linked to…
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