G 4 C 2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD

Through mechanisms that remain poorly defined, defects in nucleocytoplasmic transport and accumulations of specific nuclear-pore-complex-associated proteins have been reported in multiple neurodegenerative diseases, including C9orf72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (ALS/FTD...

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Veröffentlicht in:	Neuron (Cambridge, Mass.) Mass.), 2020-09, Vol.107 (6), p.1124
Hauptverfasser:	Coyne, Alyssa N, Zaepfel, Benjamin L, Hayes, Lindsey, Fitchman, Boris, Salzberg, Yuval, Luo, En-Ching, Bowen, Kelly, Trost, Hannah, Aigner, Stefan, Rigo, Frank, Yeo, Gene W, Harel, Amnon, Svendsen, Clive N, Sareen, Dhruv, Rothstein, Jeffrey D
Format:	Artikel
Sprache:	eng
Schlagworte:	Active Transport, Cell Nucleus Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - metabolism C9orf72 Protein - genetics C9orf72 Protein - metabolism Cells, Cultured Cytoplasm Dementia Dementia disorders Disease Frontotemporal dementia Frontotemporal Dementia - genetics Frontotemporal Dementia - metabolism Gene expression Genetic engineering HEK293 Cells Humans Induced Pluripotent Stem Cells - cytology Induced Pluripotent Stem Cells - metabolism Localization Membrane Glycoproteins - genetics Membrane Glycoproteins - metabolism Neural Stem Cells - cytology Neural Stem Cells - metabolism Neurodegenerative diseases Neurons Nuclear Pore - metabolism Nuclear Pore Complex Proteins - genetics Nuclear Pore Complex Proteins - metabolism Nucleoporins Pathogenesis Pathology Pluripotency Proteins Ribonucleic acid RNA Stem cells Toxicity
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