Genetic models of C9orf72: what is toxic?
作者： Thomas G Moens , Linda Partridge , Adrian M Isaacs
DOI: 10.1016/J.GDE.2017.01.006
关键词:
摘要: A hexanucleotide repeat expansion in the gene C9orf72 is most common genetic cause of both amyotrophic lateral sclerosis and frontotemporal dementia. Pathogenesis may occur either due to loss function gene, or a toxic gain function, via production repetitive sense antisense RNA and/or dipeptide proteins. Recently, mouse knockouts have suggested that alone insufficient lead neurodegeneration, whilst overexpression DNA sufficient wide range model systems. Additionally, models now been created attempt study effects proteins isolation thus determine their relevance disease.
core.ac.uk
mpg.de
sci-hub.se 参考文章(87)
Johnathan Cooper-Knock, Adrian Higginbottom, Matthew J. Stopford, J. Robin Highley, Paul G. Ince, Stephen B. Wharton, Stuart Pickering-Brown, Janine Kirby, Guillaume M. Hautbergue, Pamela J. Shaw, Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy Acta Neuropathologica. ,vol. 130, pp. 63- 75 ,(2015) , 10.1007/S00401-015-1429-9
Marka van Blitterswijk, Mariely DeJesus-Hernandez, Rosa Rademakers, How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Current Opinion in Neurology. ,vol. 25, pp. 689- 700 ,(2012) , 10.1097/WCO.0B013E32835A3EFB
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
Shangxi Xiao, Laura MacNair, Philip McGoldrick, Paul M. McKeever, Jesse R. McLean, Ming Zhang, Julia Keith, Lorne Zinman, Ekaterina Rogaeva, Janice Robertson, Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis. Annals of Neurology. ,vol. 78, pp. 568- 583 ,(2015) , 10.1002/ANA.24469
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
Y. Davidson, A. C. Robinson, X. Liu, D. Wu, C. Troakes, S. Rollinson, M. Masuda‐Suzukake, G. Suzuki, T. Nonaka, J. Shi, J. Tian, H. Hamdalla, J. Ealing, A. Richardson, M. Jones, S. Pickering‐Brown, J. S. Snowden, M. Hasegawa, D. M. A. Mann, Neurodegeneration in Frontotemporal Lobar Degeneration and Motor Neurone Disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins. Neuropathology and Applied Neurobiology. ,vol. 42, pp. 242- 254 ,(2016) , 10.1111/NAN.12292