2023
Dysregulation of alternative splicing in spinocerebellar ataxia type 1
Olmos V, Thompson E, Gogia N, Luttik K, Veeranki V, Ni L, Sim S, Chen K, Krause D, Lim J. Dysregulation of alternative splicing in spinocerebellar ataxia type 1. Human Molecular Genetics 2023, 33: 138-149. PMID: 37802886, PMCID: PMC10979408, DOI: 10.1093/hmg/ddad170.Peer-Reviewed Original ResearchMeSH KeywordsAlternative SplicingAnimalsAtaxin-1Ataxin-3BrainMiceNerve Tissue ProteinsSpinocerebellar AtaxiasConceptsAlternative splicing eventsSpinocerebellar ataxia type 1Splicing eventsAtaxin-1Ataxia type 1Mutant ataxin-1Alternative splicingGene expressionMisregulated alternative splicingCell-autonomous mannerDifferential gene expressionNew biological pathwaysMolecular mechanistic insightsDrosophila modelGenetic manipulationBulk RNABiological pathwaysPolyglutamine tractNeurodegenerative phenotypeAutonomous mannerMechanistic insightsSplicingPotential therapeutic strategyMouse cerebellumExpression
2022
Identifying Disease Signatures in the Spinocerebellar Ataxia Type 1 Mouse Cortex
Luttik K, Olmos V, Owens A, Khan A, Yun J, Driessen T, Lim J. Identifying Disease Signatures in the Spinocerebellar Ataxia Type 1 Mouse Cortex. Cells 2022, 11: 2632. PMID: 36078042, PMCID: PMC9454518, DOI: 10.3390/cells11172632.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAtaxin-1Disease Models, AnimalMiceMice, TransgenicNerve Tissue ProteinsPurkinje CellsSpinocerebellar AtaxiasConceptsSCA1 mouse modelSpinocerebellar ataxia type 1Brain regionsMotor cortexMouse modelPurkinje cellsUnique gene expression changesCranial nerve nucleiBroad brain regionsSpecific neuronal populationsCerebellar Purkinje cellsInferior olive nucleusRegion-specific mechanismsCortical pathologyAtaxin-1Synaptic dysfunctionNerve nucleiSpinocerebellar tractSpinal cordProgressive degenerationTranscriptomic changesNeuronal populationsMouse cortexMutant ataxin-1Type 1
2018
Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1
Driessen TM, Lee PJ, Lim J. Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1. ELife 2018, 7: e39981. PMID: 30507379, PMCID: PMC6292693, DOI: 10.7554/elife.39981.Peer-Reviewed Original ResearchConceptsSpinocerebellar ataxia type 1Ataxia type 1Biological pathwaysGene expression changesMolecular pathway analysisSCA1 mouse modelExpression changesPathway analysisMouse modelDisease initiationInferior oliveMolecular alterationsPathwayAffected tissuesSpecific differencesVulnerable tissuesTissue vulnerabilityType 1Different mechanismsGenesTissueOliveFirst time
2013
Polyglutamine Disease Toxicity Is Regulated by Nemo-like Kinase in Spinocerebellar Ataxia Type 1
Ju H, Kokubu H, Todd TW, Kahle JJ, Kim S, Richman R, Chirala K, Orr HT, Zoghbi HY, Lim J. Polyglutamine Disease Toxicity Is Regulated by Nemo-like Kinase in Spinocerebellar Ataxia Type 1. Journal Of Neuroscience 2013, 33: 9328-9336. PMID: 23719801, PMCID: PMC3710458, DOI: 10.1523/jneurosci.3465-12.2013.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, Genetically ModifiedAtaxin-1AtaxinsBehavior, AnimalBlotting, WesternBrainCerebellumChromatography, GelDrosophila melanogasterFemaleGene ExpressionHEK293 CellsHeredodegenerative Disorders, Nervous SystemHumansImmunoprecipitationMiceMice, Inbred C57BLMice, TransgenicMitogen-Activated Protein KinasesNerve Tissue ProteinsNuclear ProteinsPeptidesPhosphorylationProtein Serine-Threonine KinasesSpinocerebellar Ataxias