TDP-43 A315T mutation in familial motor neuron disease.

作者: Michael A. Gitcho , Robert H. Baloh , Sumi Chakraverty , Kevin Mayo , Joanne B. Norton

DOI: 10.1002/ANA.21344

关键词: GeneticsMutation (genetic algorithm)Degenerative diseaseNeuroscienceNeurodegenerationMotor neuronTARDBPMissense mutationCandidate geneDiseaseBiology

摘要: To identify novel causes of familial neurodegenerative diseases, we extended our previous studies of TAR DNA‐binding protein 43 (TDP‐43) proteinopathies to investigate TDP‐43 as …

参考文章(14)
Mike Hutton, Corinne L. Lendon, Patrizia Rizzu, Matt Baker, Susanne Froelich, Henry Houlden, Stuart Pickering-Brown, Sumi Chakraverty, Adrian Isaacs, Andrew Grover, Jennifer Hackett, Jennifer Adamson, Sarah Lincoln, Dennis Dickson, Peter Davies, Ronald C. Petersen, Martijn Stevens, Esther de Graaff, Erwin Wauters, Jeltje van Baren, Marcel Hillebrand, Marijke Joosse, Jennifer M. Kwon, Petra Nowotny, Lien Kuei Che, Joanne Norton, John C. Morris, Lee A. Reed, John Trojanowski, Hans Basun, Lars Lannfelt, Michael Neystat, Stanley Fahn, Francis Dark, Tony Tannenberg, Peter R. Dodd, Nick Hayward, John B. J. Kwok, Peter R. Schofield, Athena Andreadis, Julie Snowden, David Craufurd, David Neary, Frank Owen, Ben A. Oostra, John Hardy, Alison Goate, John van Swieten, David Mann, Timothy Lynch, Peter Heutink, Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 Nature. ,vol. 393, pp. 702- 705 ,(1998) , 10.1038/31508
Emanuele Buratti, Thilo Dörk, Elisabetta Zuccato, Franco Pagani, Maurizio Romano, Francisco E Baralle, Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping The EMBO Journal. ,vol. 20, pp. 1774- 1784 ,(2001) , 10.1093/EMBOJ/20.7.1774
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
Tetsuaki Arai, Masato Hasegawa, Haruhiko Akiyama, Kenji Ikeda, Takashi Nonaka, Hiroshi Mori, David Mann, Kuniaki Tsuchiya, Mari Yoshida, Yoshio Hashizume, Tatsuro Oda, TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Biochemical and Biophysical Research Communications. ,vol. 351, pp. 602- 611 ,(2006) , 10.1016/J.BBRC.2006.10.093
Hurng-Yi Wang, I-Fan Wang, Jayaramakrishnan Bose, C.-K.James Shen, Structural diversity and functional implications of the eukaryotic TDP gene family. Genomics. ,vol. 83, pp. 130- 139 ,(2004) , 10.1016/S0888-7543(03)00214-3
Ian R. A. Mackenzie, Eileen H. Bigio, Paul G. Ince, Felix Geser, Manuela Neumann, Nigel J. Cairns, Linda K. Kwong, Mark S. Forman, John Ravits, Heather Stewart, Andrew Eisen, Leo McClusky, Hans A. Kretzschmar, Camelia M. Monoranu, J. Robin Highley, Janine Kirby, Teepu Siddique, Pamela J. Shaw, Virginia M-Y. Lee, John Q. Trojanowski, Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Annals of Neurology. ,vol. 61, pp. 427- 434 ,(2007) , 10.1002/ANA.21147
Alison Goate, Marie-Christine Chartier-Harlin, Mike Mullan, Jeremy Brown, Fiona Crawford, Liana Fidani, Luis Giuffra, Andrew Haynes, Nick Irving, Louise James, Rebecca Mant, Phillippa Newton, Karen Rooke, Penelope Roques, Chris Talbot, Margaret Pericak-Vance, Alien Roses, Robert Williamson, Martin Rossor, Mike Owen, John Hardy, Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. ,vol. 349, pp. 704- 706 ,(1991) , 10.1038/349704A0
Youhna M. Ayala, Sergio Pantano, Andrea D'Ambrogio, Emanuele Buratti, Antonia Brindisi, Caterina Marchetti, Maurizio Romano, Francisco E. Baralle, Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function. Journal of Molecular Biology. ,vol. 348, pp. 575- 588 ,(2005) , 10.1016/J.JMB.2005.02.038
Nigel J. Cairns, Eileen H. Bigio, Ian R. A. Mackenzie, Manuela Neumann, Virginia M.-Y. Lee, Kimmo J. Hatanpaa, Charles L. White, Julie A. Schneider, Lea Tenenholz Grinberg, Glenda Halliday, Charles Duyckaerts, James S. Lowe, Ida E. Holm, Markus Tolnay, Koichi Okamoto, Hideaki Yokoo, Shigeo Murayama, John Woulfe, David G. Munoz, Dennis W. Dickson, Paul G. Ince, John Q. Trojanowski, David M. A. Mann, Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration Acta Neuropathologica. ,vol. 114, pp. 5- 22 ,(2007) , 10.1007/S00401-007-0237-2
Piera Pasinelli, Robert H. Brown, Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nature Reviews Neuroscience. ,vol. 7, pp. 710- 723 ,(2006) , 10.1038/NRN1971