Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity

INTRODUCTION: Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal neurodegenerative diseases that share clinical and neuropathological features. Furthermore, the most common genetic cause of both FTD and ALS is a GGGGCC (G(4)C(2)) repeat expansion in the C9orf72 gene. Thi...

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Published in:Science
Main Authors: Zhang, Yong-Jie, Guo, Lin, Gonzales, Patrick K., Gendron, Tania F., Wu, Yanwei, Jansen-West, Karen, O’Raw, Aliesha D., Pickles, Sarah R., Prudencio, Mercedes, Carlomagno, Yari, Gachechiladze, Mariam A., Ludwig, Connor, Tian, Ruilin, Chew, Jeannie, DeTure, Michael, Lin, Wen-Lang, Tong, Jimei, Daughrity, Lillian M., Yue, Mei, Song, Yuping, Andersen, Jonathan W., Castanedes-Casey, Monica, Kurti, Aishe, Datta, Abhishek, Antognetti, Giovanna, McCampbell, Alexander, Rademakers, Rosa, Oskarsson, Björn, Dickson, Dennis W., Kampmann, Martin, Ward, Michael E., Fryer, John D., Link, Christopher D., Shorter, James, Petrucelli, Leonard
Format: Artigo
Language:Inglês
Published: 2019
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6524780/
https://ncbi.nlm.nih.gov/pubmed/30765536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.aav2606
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