Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

作者: Jie Jiang , Qiang Zhu , Tania F. Gendron , Shahram Saberi , Melissa McAlonis-Downes

DOI: 10.1016/J.NEURON.2016.04.006

关键词:

摘要: Hexanucleotide expansions in C9ORF72 are the most frequent genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Disease mechanisms were evaluated in …

参考文章(68)
Ana Jovičić, Jerome Mertens, Steven Boeynaems, Elke Bogaert, Noori Chai, Shizuka B Yamada, Joseph W Paul III, Shuying Sun, Joseph R Herdy, Gregor Bieri, Nicholas J Kramer, Fred H Gage, Ludo Van Den Bosch, Wim Robberecht, Aaron D Gitler, None, Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS Nature Neuroscience. ,vol. 18, pp. 1226- 1229 ,(2015) , 10.1038/NN.4085
J. Chew, T. F. Gendron, M. Prudencio, H. Sasaguri, Y.-J. Zhang, M. Castanedes-Casey, C. W. Lee, K. Jansen-West, A. Kurti, M. E. Murray, K. F. Bieniek, P. O. Bauer, E. C. Whitelaw, L. Rousseau, J. N. Stankowski, C. Stetler, L. M. Daughrity, E. A. Perkerson, P. Desaro, A. Johnston, K. Overstreet, D. Edbauer, R. Rademakers, K. B. Boylan, D. W. Dickson, J. D. Fryer, L. Petrucelli, C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits Science. ,vol. 348, pp. 1151- 1154 ,(2015) , 10.1126/SCIENCE.AAA9344
Tania F. Gendron, Marka van Blitterswijk, Kevin F. Bieniek, Lillian M. Daughrity, Jie Jiang, Beth K. Rush, Otto Pedraza, John A. Lucas, Melissa E. Murray, Pamela Desaro, Amelia Robertson, Karen Overstreet, Colleen S. Thomas, Julia E. Crook, Monica Castanedes-Casey, Linda Rousseau, Keith A. Josephs, Joseph E. Parisi, David S. Knopman, Ronald C. Petersen, Bradley F. Boeve, Neill R. Graff-Radford, Rosa Rademakers, Clotilde Lagier-Tourenne, Dieter Edbauer, Don W. Cleveland, Dennis W. Dickson, Leonard Petrucelli, Kevin B. Boylan, Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers Acta Neuropathologica. ,vol. 130, pp. 559- 573 ,(2015) , 10.1007/S00401-015-1474-4
Ian R. A. Mackenzie, Petra Frick, Friedrich A. Grässer, Tania F. Gendron, Leonard Petrucelli, Neil R. Cashman, Dieter Edbauer, Elisabeth Kremmer, Johannes Prudlo, Dirk Troost, Manuela Neumann, Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers Acta Neuropathologica. ,vol. 130, pp. 845- 861 ,(2015) , 10.1007/S00401-015-1476-2
Brian D. Freibaum, Yubing Lu, Rodrigo Lopez-Gonzalez, Nam Chul Kim, Sandra Almeida, Kyung-Ha Lee, Nisha Badders, Marc Valentine, Bruce L. Miller, Philip C. Wong, Leonard Petrucelli, Hong Joo Kim, Fen-Biao Gao, J. Paul Taylor, GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport Nature. ,vol. 525, pp. 129- 133 ,(2015) , 10.1038/NATURE14974
Ke Zhang, Christopher J. Donnelly, Aaron R. Haeusler, Jonathan C. Grima, James B. Machamer, Peter Steinwald, Elizabeth L. Daley, Sean J. Miller, Kathleen M. Cunningham, Svetlana Vidensky, Saksham Gupta, Michael A. Thomas, Ingie Hong, Shu-Ling Chiu, Richard L. Huganir, Lyle W. Ostrow, Michael J. Matunis, Jiou Wang, Rita Sattler, Thomas E. Lloyd, Jeffrey D. Rothstein, The C9orf72 repeat expansion disrupts nucleocytoplasmic transport Nature. ,vol. 525, pp. 56- 61 ,(2015) , 10.1038/NATURE14973
Marka van Blitterswijk, Tania F. Gendron, Matthew C. Baker, Mariely DeJesus-Hernandez, NiCole A. Finch, Patricia H. Brown, Lillian M. Daughrity, Melissa E. Murray, Michael G. Heckman, Jie Jiang, Clotilde Lagier-Tourenne, Dieter Edbauer, Don W. Cleveland, Keith A. Josephs, Joseph E. Parisi, David S. Knopman, Ronald C. Petersen, Leonard Petrucelli, Bradley F. Boeve, Neill R. Graff-Radford, Kevin B. Boylan, Dennis W. Dickson, Rosa Rademakers, Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72. Acta Neuropathologica. ,vol. 130, pp. 863- 876 ,(2015) , 10.1007/S00401-015-1480-6
Ilse Gijselinck, Sara Van Mossevelde, Julie van der Zee, Anne Sieben, Sebastiaan Engelborghs, Jan De Bleecker, Adrian Ivanoiu, Olivier Deryck, Dieter Edbauer, Ming Zhang, Bavo Heeman, Veerle Bäumer, Marleen Van den Broeck, Maria Mattheijssens, Karin Peeters, Ekaterina Rogaeva, Peter De Jonghe, Patrick Cras, Jean-Jacques Martin, Peter Paul De Deyn, Marc Cruts, Christine Van Broeckhoven, None, The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter Molecular Psychiatry. ,vol. 21, pp. 1112- 1124 ,(2016) , 10.1038/MP.2015.159
Martin H Schludi, Stephanie May, Friedrich A Grässer, Kristin Rentzsch, Elisabeth Kremmer, Clemens Küpper, Thomas Klopstock, Bavarian Brain Banking Alliance, Thomas Arzberger, Dieter Edbauer, None, Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing Acta Neuropathologica. ,vol. 130, pp. 537- 555 ,(2015) , 10.1007/S00401-015-1450-Z
Dejun Yang, Abbas Abdallah, Zhaodong Li, Yubing Lu, Sandra Almeida, Fen-Biao Gao, FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions Acta Neuropathologica. ,vol. 130, pp. 525- 535 ,(2015) , 10.1007/S00401-015-1448-6