TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

作者: J. P. Ling , O. Pletnikova , J. C. Troncoso , P. C. Wong

DOI: 10.1126/SCIENCE.AAB0983

关键词: IntronRNA splicingEmbryonic stem cellGeneticsDNA-binding proteinBiologyTranslation (biology)ExonRNAPsychological repression

摘要: … sclerosis and frontotemporal dementia (ALS-FTD). Ling et al. … Because brains of ALS-FTD cases showed evidence of … neurons, and frontotemporal dementia (FTD), a common form of …

参考文章(30)
James Tollervey, Jernej Ule, Marco Baralle, Emanuele Buratti, Francisco E Baralle, Youhna M Ayala, Laura De Conti, S Eréndira Avendaño-Vázquez, Ashish Dhir, Maurizio Romano, Andrea D'Ambrogio, TDP-43 regulates its mRNA levels through a negative feedback loop The EMBO Journal. ,vol. 30, pp. 277- 288 ,(2011) , 10.1038/EMBOJ.2010.310
J. Sreedharan, I. P. Blair, V. B. Tripathi, X. Hu, C. Vance, B. Rogelj, S. Ackerley, J. C. Durnall, K. L. Williams, E. Buratti, F. Baralle, J. de Belleroche, J. D. Mitchell, P. N. Leigh, A. Al-Chalabi, C. C. Miller, G. Nicholson, C. E. Shaw, TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis Science. ,vol. 319, pp. 1668- 1672 ,(2008) , 10.1126/SCIENCE.1154584
Manuela Neumann, Deepak M Sampathu, Linda K Kwong, Adam C Truax, Matthew C Micsenyi, Thomas T Chou, Jennifer Bruce, Theresa Schuck, Murray Grossman, Christopher M Clark, Leo F McCluskey, Bruce L Miller, Eliezer Masliah, Ian R Mackenzie, Howard Feldman, Wolfgang Feiden, Hans A Kretzschmar, John Q Trojanowski, Virginia M-Y Lee, Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Science. ,vol. 314, pp. 130- 133 ,(2006) , 10.1126/SCIENCE.1134108
Brian C. Kraemer, Theresa Schuck, Jeanna M. Wheeler, Linda C. Robinson, John Q. Trojanowski, Virginia M. Y. Lee, Gerard D. Schellenberg, Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis Acta Neuropathologica. ,vol. 119, pp. 409- 419 ,(2010) , 10.1007/S00401-010-0659-0
Xiang-Dong Fu, Manuel Ares, Context-dependent control of alternative splicing by RNA-binding proteins Nature Reviews Genetics. ,vol. 15, pp. 689- 701 ,(2014) , 10.1038/NRG3778
Peter J Lukavsky, Dalia Daujotyte, James R Tollervey, Jernej Ule, Cristiana Stuani, Emanuele Buratti, Francisco E Baralle, Fred F Damberger, Frédéric H-T Allain, Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43 Nature Structural & Molecular Biology. ,vol. 20, pp. 1443- 1449 ,(2013) , 10.1038/NSMB.2698
Edward B. Lee, Virginia M.-Y. Lee, John Q. Trojanowski, Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration Nature Reviews Neuroscience. ,vol. 13, pp. 38- 50 ,(2012) , 10.1038/NRN3121
Qi-Long Ying, Jason Wray, Jennifer Nichols, Laura Batlle-Morera, Bradley Doble, James Woodgett, Philip Cohen, Austin Smith, The ground state of embryonic stem cell self-renewal Nature. ,vol. 453, pp. 519- 523 ,(2008) , 10.1038/NATURE06968
Elizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski, Peter C Sapp, Patrick A Dion, Claire S Leblond, Julien Couthouis, Yi-Fan Lu, Quanli Wang, Brian J Krueger, Zhong Ren, Jonathan Keebler, Yujun Han, Shawn E Levy, Braden E Boone, Jack R Wimbish, Lindsay L Waite, Angela L Jones, John P Carulli, Aaron G Day-Williams, John F Staropoli, Winnie W Xin, Alessandra Chesi, Alya R Raphael, Diane McKenna-Yasek, Janet Cady, JMB Vianney de Jong, Kevin P Kenna, Bradley N Smith, Simon Topp, Jack Miller, Athina Gkazi, FALS Sequencing Consortium, Ammar Al-Chalabi, Leonard H Van Den Berg, Jan Veldink, Vincenzo Silani, Nicola Ticozzi, Christopher E Shaw, Robert H Baloh, Stanley Appel, Ericka Simpson, Clotilde Lagier-Tourenne, Stefan M Pulst, Summer Gibson, John Q Trojanowski, Lauren Elman, Leo McCluskey, Murray Grossman, Neil A Shneider, Wendy K Chung, John M Ravits, Jonathan D Glass, Katherine B Sims, Vivianna M Van Deerlin, Tom Maniatis, Sebastian D Hayes, Alban Ordureau, Sharan Swarup, John Landers, Frank Baas, Andrew S Allen, Richard S Bedlack, J Wade Harper, Aaron D Gitler, Guy A Rouleau, Robert Brown, Matthew B Harms, Gregory M Cooper, Tim Harris, Richard M Myers, David B Goldstein, None, Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways Science. ,vol. 347, pp. 1436- 1441 ,(2015) , 10.1126/SCIENCE.AAA3650