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 ResearchConceptsAlternative 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
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