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 ResearchConceptsSCA1 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 1The extra-cerebellar effects of spinocerebellar ataxia type 1 (SCA1): looking beyond the cerebellum
Olmos V, Gogia N, Luttik K, Haidery F, Lim J. The extra-cerebellar effects of spinocerebellar ataxia type 1 (SCA1): looking beyond the cerebellum. Cellular And Molecular Life Sciences 2022, 79: 404. PMID: 35802260, PMCID: PMC9993484, DOI: 10.1007/s00018-022-04419-7.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsSpinocerebellar ataxia type 1Type 1Ataxia type 1Cerebellar Purkinje cell lossProgressive motor deficitsSCA1 patientsPurkinje cell lossMouse model studiesMotor deficitsLimb incoordinationNumber of CAGMouse modelRespiratory problemsMemory impairmentCell lossCerebellar regionsCognitive defectsNeurodegenerative diseasesPatientsAtaxin-1 proteinDiverse pathologiesATXN1 expressionCerebellumDiseaseFurther investigation
2020
Pathogenic mechanisms underlying spinocerebellar ataxia type 1
Tejwani L, Lim J. Pathogenic mechanisms underlying spinocerebellar ataxia type 1. Cellular And Molecular Life Sciences 2020, 77: 4015-4029. PMID: 32306062, PMCID: PMC7541529, DOI: 10.1007/s00018-020-03520-z.Peer-Reviewed Original ResearchConceptsGait impairmentSpinocerebellar ataxiaHeterogenous clinical manifestationsProgressive gait impairmentAdditional clinical featuresIon channel dysfunctionKey cellular changesCommon gait impairmentNervous system biologyHereditary cerebellar ataxiaClinical featuresClinical manifestationsCerebellar featuresCerebellar atrophyAutosomal dominant spinocerebellar ataxiaChannel dysfunctionPathogenic mechanismsDisease pathogenesisMolecular pathogenesisCerebellar ataxiaType 1Spinocerebellar ataxia type 1Central mechanismsAtaxia type 1Dominant spinocerebellar ataxias
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