2020
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
Chung H, Wangler M, Marcogliese P, Jo J, Ravenscroft T, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt R, Pestronk A, Rosenfeld J, Burrage L, Herndon M, Chen S, Network M, Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser A, Jones R, Watkins P, Yoo T, Mar S, Choi M, Bucelli R, Yamamoto S, Lee H, Prada C, Chae J, Vogel T, Bellen H. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron 2020, 106: 589-606.e6. PMID: 32169171, PMCID: PMC7289150, DOI: 10.1016/j.neuron.2020.02.021.Peer-Reviewed Original ResearchMeSH KeywordsAcyl-CoA OxidaseAnimalsAxonsDrosophilaHumansMiceMutationNerve DegenerationNeurogliaRatsConceptsSchwann cellsAxonal lossMurine Schwann cellsPrimary Schwann cellsTreatment of fliesLong-chain fatty acid β-oxidation pathwayNeuronal lossGlial lossSynaptic transmissionRate-limiting enzymeDevelopmental delayACOX1Elevated levelsFatty acid β-oxidation pathwayReactive oxygen speciesDifferent mechanismsPupal deathPatientsDominant variantFunction mutationsGliaOxygen speciesTreatmentDe novoCells
2019
Molecular layer interneurons shape the spike activity of cerebellar Purkinje cells
Brown A, Arancillo M, Lin T, Catt D, Zhou J, Lackey E, Stay T, Zuo Z, White J, Sillitoe R. Molecular layer interneurons shape the spike activity of cerebellar Purkinje cells. Scientific Reports 2019, 9: 1742. PMID: 30742002, PMCID: PMC6370775, DOI: 10.1038/s41598-018-38264-1.Peer-Reviewed Original ResearchConceptsMolecular layer interneuronsPurkinje cellsGABAergic neurotransmissionSpike firingVesicular GABA transporterClasses of interneuronsPurkinje cell functionCerebellar Purkinje cellsComplex spike firingPurkinje cell activityPurkinje cell simple spike firingInhibitory molecular layer interneuronsConditional genetic approachPurkinje cell simple spikesSynaptic inputsStellate cellsSpike activitySimple spike firingFiring propertiesGABA transporterCell activityInterneuronsSelective depletionCell functionComplex spikes