Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy
Jepson JEC, Praschberger R, Krishnakumar SS. Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy. Neuroscience 2019, 420: 41-49. PMID: 30954670, DOI: 10.1016/j.neuroscience.2019.03.057.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsGolgi ApparatusHumansMutationMyoclonic Epilepsies, ProgressiveNeuronsProtein TransportQb-SNARE ProteinsConceptsEndoplasmic reticulumSNARE proteinsProgressive myoclonus epilepsySecretory trafficking pathwaysCis-Golgi membranesMis-sense mutationsTransport vesiclesGolgi transportTrafficking pathwaysVesicles budSecretory pathwaySuccessive fusion eventsTarget membraneFusion eventsEssential functionsDevelopmental defectsMolecular mechanismsMyoclonus epilepsyProteinFusion stepSevere neurological disordersMutationsMembranePathwayInitial step