Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS
Coyne AN, Baskerville V, Zaepfel BL, Dickson DW, Rigo F, Bennett F, Lusk CP, Rothstein JD. Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS. Science Translational Medicine 2021, 13 PMID: 34321318, PMCID: PMC9022198, DOI: 10.1126/scitranslmed.abe1923.Peer-Reviewed Original ResearchMeSH KeywordsAmyotrophic Lateral SclerosisC9orf72 ProteinDNA-Binding ProteinsEndosomal Sorting Complexes Required for TransportFrontotemporal DementiaHumansNuclear PoreConceptsTDP-43 dysfunctionSporadic ALSGlutamate-induced neuronal deathHuman motor cortexAmyotrophic lateral sclerosis/frontotemporal dementiaSpinal neuronsComplex injuriesMotor cortexNeuronal deathFamilial ALSHuman neuronsPathological mechanismsTherapeutic targetFrontotemporal dementiaMRNA expressionNeurodegenerative diseasesDysfunctionGenetic formsCritical mediatorALSNeuronsStem cellsAlterationsPluripotent stem cellsNuclear accumulation