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F. Geser, V. Lee, J. Trojanowski (2010)
Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: A spectrum of TDP‐43 proteinopathiesNeuropathology, 30
Sungchan Cho, G. Dreyfuss (2010)
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity.Genes & development, 24 5
Mattias Andersson, A. Ståhlberg, Y. Arvidsson, Anita Olofsson, H. Semb, G. Stenman, O. Nilsson, P. Åman (2008)
The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress responseBMC Cell Biology, 9
C. Gellera, C. Colombrita, N. Ticozzi, B. Castellotti, C. Bragato, A. Ratti, F. Taroni, V. Silani (2008)
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosisNeurogenetics, 9
D. Dormann, A. Capell, A. Carlson, Sunita Shankaran, R. Rodde, M. Neumann, E. Kremmer, T. Matsuwaki, K. Yamanouchi, M. Nishihara, C. Haass (2009)
Proteolytic processing of TAR DNA binding protein‐43 by caspases produces C‐terminal fragments with disease defining properties independent of progranulinJournal of Neurochemistry, 110
M. Meissner, S. Lopato, J. Gotzmann, G. Sauermann, A. Barta (2003)
Proto-oncoprotein TLS/FUS is associated to the nuclear matrix and complexed with splicing factors PTB, SRm160, and SR proteins.Experimental cell research, 283 2
J. Ule, K. Jensen, M. Ruggiu, Aldo Mele, A. Ule, R. Darnell (2003)
CLIP Identifies Nova-Regulated RNA Networks in the BrainScience, 302
Yong-Jie Zhang, Ya-fei Xu, C. Cook, T. Gendron, Paul Roettges, C. Link, Wen‐lang Lin, Jimei Tong, M. Castanedes-Casey, Peter Ash, J. Gass, Vijayaraghavan Rangachari, E. Buratti, F. Baralle, T. Golde, D. Dickson, L. Petrucelli (2009)
Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicityProceedings of the National Academy of Sciences, 106
N. Suzuki, M. Aoki, H. Warita, Masaaki Kato, H. Mizuno, N. Shimakura, T. Akiyama, H. Furuya, Toshihiro Hokonohara, A. Iwaki, S. Togashi, H. Konno, Y. Itoyama (2010)
FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusionJournal of Human Genetics, 55
Scott Pesiridis, Kalyan Tripathy, Selcuk Tanik, J. Trojanowski, V. Lee (2011)
A “Two-hit” Hypothesis for Inclusion Formation by Carboxyl-terminal Fragments of TDP-43 Protein Linked to RNA Depletion and Impaired Microtubule-dependent Transport*The Journal of Biological Chemistry, 286
M. Briese, Behrooz Esmaeili, S. Fraboulet, Emma Burt, Stefanos Christodoulou, P. Towers, K. Davies, D. Sattelle (2008)
Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespanHuman Molecular Genetics, 18
Yingzhang Chen, C. Bennett, H. Huynh, I. Blair, I. Puls, J. Irobi, I. Dierick, A. Abel, M. Kennerson, B. Rabin, G. Nicholson, M. Auer-Grumbach, K. Wagner, P. Jonghe, J. Griffin, K. Fischbeck, V. Timmerman, D. Cornblath, P. Chance (2004)
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).American journal of human genetics, 74 6
Shuo-Chien Ling, Claudio Albuquerque, Joo Han, C. Lagier-Tourenne, S. Tokunaga, Huilin Zhou, D. Cleveland (2010)
ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLSProceedings of the National Academy of Sciences, 107
K. Vuopala, R. Herva (1994)
Lethal congenital contracture syndrome: further delineation and genetic aspects.Journal of Medical Genetics, 31
Timothy Rapp, Liu Yang, E. Conrad, N. Mandahl, H. Chansky (2002)
RNA splicing mediated by YB‐1 is inhibited by TLS/CHOP in human myxoid liposarcoma cellsJournal of Orthopaedic Research, 20
S. Kariya, Gyu-Hwan Park, Y. Maeno-Hikichi, Olga Leykekhman, C. Lutz, M. Arkovitz, L. Landmesser, U. Monani (2008)
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy.Human molecular genetics, 17 16
K. Nakanishi, O. Nureki (2005)
Recent progress of structural biology of tRNA processing and modification.Molecules and cells, 19 2
T. Kwiatkowski, D. Bosco, A. Leclerc, E. Tamrazian, C. Vanderburg, C. Russ, A. Davis, J. Gilchrist, E. Kasarskis, T. Munsat, P. Valdmanis, G. Rouleau, B. Hosler, P. Cortelli, P. Jong, Y. Yoshinaga, J. Haines, M. Pericak-Vance, J. Yan, N. Ticozzi, T. Siddique, D. McKenna-Yasek, P. Sapp, H. Horvitz, J. Landers, R. Brown
Supporting Online Material Materials and Methods Figs. S1 to S7 Tables S1 to S4 References Mutations in the Fus/tls Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
A. Yokoseki, A. Shiga, C. Tan, A. Tagawa, H. Kaneko, A. Koyama, H. Eguchi, A. Tsujino, T. Ikeuchi, A. Kakita, K. Okamoto, M. Nishizawa, H. Takahashi, O. Onodera (2008)
TDP‐43 mutation in familial amyotrophic lateral sclerosisAnnals of Neurology, 63
Pablo. Mercado, Y. Ayala, M. Romano, E. Buratti, F. Baralle (2005)
Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II geneNucleic Acids Research, 33
V. Swarup, J. Julien (2011)
ALS pathogenesis: Recent insights from genetics and mouse modelsProgress in Neuro-Psychopharmacology and Biological Psychiatry, 35
Widyawilis Selamat, Ildasolha Jamari, Yu Wang, T. Takumi, F. Wong, Ristuko Fujii (2009)
TLS interaction with NMDA R1 splice variant in retinal ganglion cell line RGC-5Neuroscience Letters, 450
V. Deerlin, J. Leverenz, L. Bekris, T. Bird, Wuxing Yuan, L. Elman, Dana Clay, E. Wood, A. Chen-Plotkin, M. Martinez-Lage, E. Steinbart, L. McCluskey, M. Grossman, M. Neumann, I-Lin Wu, Wei-Shiung Yang, R. Kalb, D. Galasko, T. Montine, J. Trojanowski, V. Lee, G. Schellenberg, Chang-En Yu (2008)
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysisThe Lancet Neurology, 7
Katie Moisse, J. Mepham, K. Volkening, I. Welch, Tracy Hill, M. Strong (2009)
Cytosolic TDP-43 expression following axotomy is associated with caspase 3 activation in NFL−/− mice: Support for a role for TDP-43 in the physiological response to neuronal injuryBrain Research, 1296
Amila Suraweera, O. Becherel, Philip Chen, Natalie Rundle, R. Woods, J. Nakamura, M. Gatei, C. Criscuolo, A. Filla, L. Chessa, Markus Fusser, B. Epe, N. Gueven, M. Lavin (2007)
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damageThe Journal of Cell Biology, 177
U. Monani (2005)
Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific DiseaseNeuron, 48
Qin Liu, G. Dreyfuss (1996)
A novel nuclear structure containing the survival of motor neurons protein.The EMBO Journal, 15
J. Yong, L. Wan, G. Dreyfuss (2004)
Why do cells need an assembly machine for RNA-protein complexes?Trends in cell biology, 14 5
S. Wolin, A. Matera (1999)
The trials and travels of tRNA.Genes & development, 13 1
V. Belzil, H. Daoud, P. Dion, G. Rouleau (2011)
No effect on SOD1 splicing by TARDP or FUS mutations.Archives of neurology, 68 3
B. Charroux, L. Pellizzoni, R. Perkinson, A. Shevchenko, M. Mann, G. Dreyfuss (1999)
Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems.The Journal of cell biology, 147 6
Wei-wen Ge, K. Volkening, C. Leystra‐Lantz, H. Jaffe, M. Strong (2007)
14-3-3 protein binds to the low molecular weight neurofilament (NFL) mRNA 3′ UTRMolecular and Cellular Neuroscience, 34
A. Renton, E. Majounie, A. Waite, J. Simón-Sánchez, S. Rollinson, J. Gibbs, Jennifer Schymick, H. Laaksovirta, J. Swieten, L. Myllykangas, H. Kalimo, A. Paetau, Yevgeniya Abramzon, A. Remes, Alice Kaganovich, Sonja Scholz, J. Duckworth, Jinhui Ding, D. Harmer, D. Hernandez, Janel Johnson, K. Mok, M. Ryten, D. Trabzuni, R. Guerreiro, R. Orrell, J. Neal, A. Murray, J. Pearson, I. Jansen, David Sondervan, H. Seelaar, D. Blake, Kate Young, Nicola Halliwell, J. Callister, G. Toulson, A. Richardson, A. Gerhard, J. Snowden, D. Mann, D. Neary, M. Nalls, T. Peuralinna, Lilja Jansson, Veli-Matti Isoviita, Anna-Lotta Kaivorinne, M. Hölttä-Vuori, E. Ikonen, R. Sulkava, M. Benatar, J. Wuu, A. Chiò, G. Restagno, G. Borghero, M. Sabatelli, D. Heckerman, E. Rogaeva, L. Zinman, J. Rothstein, M. Sendtner, C. Drepper, E. Eichler, C. Alkan, Z. Abdullaev, S. Pack, A. Dutra, E. Pak, J. Hardy, A. Singleton, N. Williams, P. Heutink, S. Pickering-Brown, H. Morris, P. Tienari, B. Traynor (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTDNeuron, 72
H. Hir, D. Gatfield, E. Izaurralde, M. Moore (2001)
The exon–exon junction complex provides a binding platform for factors involved in mRNA export and nonsense‐mediated mRNA decayThe EMBO Journal, 20
J. Watkins, R. Murphy, J. Emtage, S. Wente (1998)
The human homologue of Saccharomyces cerevisiae Gle1p is required for poly(A)+ RNA export.Proceedings of the National Academy of Sciences of the United States of America, 95 12
Johannes Popow, M. Englert, S. Weitzer, A. Schleiffer, Beata Mierzwa, K. Mechtler, S. Trowitzsch, C. Will, R. Lührmann, D. Söll, Javier Martinez (2011)
HSPC117 Is the Essential Subunit of a Human tRNA Splicing Ligase ComplexScience, 331
H. Deng, H. Zhai, E. Bigio, Jianhua Yan, Faisal Fecto, Kaouther Ajroud, M. Mishra, S. Ajroud-Driss, S. Heller, R. Sufit, N. Siddique, E. Mugnaini, T. Siddique (2010)
FUS‐immunoreactive inclusions are a common feature in sporadic and non‐SOD1 familial amyotrophic lateral sclerosisAnnals of Neurology, 67
T. Arai, M. Hasegawa, H. Akiyama, K. Ikeda, T. Nonaka, H. Mori, D. Mann, K. Tsuchiya, Mari Yoshida, Y. Hashizume, Tatsuro Oda (2006)
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.Biochemical and biophysical research communications, 351 3
Y. Ayala, L. Conti, S. Avendaño-Vázquez, A. Dhir, M. Romano, A. D’Ambrogio, James Tollervey, J. Ule, M. Baralle, E. Buratti, F. Baralle (2011)
TDP‐43 regulates its mRNA levels through a negative feedback loopThe EMBO Journal, 30
D. Bosco, N. Lemay, H. Ko, Hongru Zhou, C. Burke, T. Kwiatkowski, P. Sapp, D. McKenna-Yasek, Robert Brown, L. Hayward (2010)
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.Human molecular genetics, 19 21
Agathe Paubel, J. Violette, Maïté Amy, J. Praline, V. Meininger, W. Camu, P. Corcia, C. Andres, P. Vourc'h (2008)
Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis.Archives of neurology, 65 10
C. Winkler, Christian Eggert, D. Gradl, G. Meister, Marieke Giegerich, D. Wedlich, B. Laggerbauer, U. Fischer (2005)
Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy.Genes & development, 19 19
F. Gebauer, M. Hentze (2004)
Molecular mechanisms of translational controlNature Reviews. Molecular Cell Biology, 5
J. Rappsilber, U. Ryder, A. Lamond, M. Mann (2006)
Large-scale Proteomic Analysis of the Human Spliceosome References
D. Kerr, K. Khalili (1991)
A recombinant cDNA derived from human brain encodes a DNA binding protein that stimulates transcription of the human neurotropic virus JCV.The Journal of biological chemistry, 266 24
S. Lefebvre, L. Bürglen, S. Reboullet, O. Clermont, P. Burlet, L. Viollet, B. Bénichou, C. Cruaud, P. Millasseau, M. Zeviani, D. Paslier, J. Frézal, D. Cohen, J. Weissenbach, A. Munnich, J. Melki (1995)
Identification and characterization of a spinal muscular atrophy-determining geneCell, 80
C. Lagier-Tourenne, M. Polymenidou, D. Cleveland (2010)
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.Human molecular genetics, 19 R1
C. Lorson, J. Strasswimmer, Jun-Mei Yao, J. Baleja, E. Hahnen, B. Wirth, T. Le, A. Burghes, E. Androphy (1998)
SMN oligomerization defect correlates with spinal muscular atrophy severityNature Genetics, 19
Zhen-hua Zhao, Wen-zu Chen, Zhi-Ying Wu, Ning Wang, Gui-xian Zhao, Wan-Jin Chen, S. Murong (2009)
A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosisAmyotrophic Lateral Sclerosis, 10
A. Voigt, David Herholz, F. Fiesel, Kavita Kaur, Daniel Müller, Peter Karsten, S. Weber, P. Kahle, Till Marquardt, J. Schulz (2010)
TDP-43-Mediated Neuron Loss In Vivo Requires RNA-Binding ActivityPLoS ONE, 5
B. Cisterna, M. Biggiogera (2010)
Ribosome biogenesis: from structure to dynamics.International review of cell and molecular biology, 284
Laure Jobert, N. Pinzón, Elodie Herreweghe, B. Jády, A. Guialis, T. Kiss, L. Tora (2009)
Human U1 snRNA forms a new chromatin-associated snRNP with TAF15EMBO Reports, 10
H. Ilieva, M. Polymenidou, D. Cleveland (2009)
Non–cell autonomous toxicity in neurodegenerative disorders: ALS and beyondThe Journal of Cell Biology, 187
H. Wils, G. Kleinberger, J. Janssens, S. Pereson, Geert Joris, Ivy Cuijt, Veerle Smits, C. Groote, C. Broeckhoven, S. Kumar-Singh (2010)
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degenerationProceedings of the National Academy of Sciences, 107
Yingzhang Chen, Sayed Hashemi, S. Anderson, Yongzhao Huang, M. Moreira, D. Lynch, I. Glass, P. Chance, C. Bennett (2006)
Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron diseaseNeurobiology of Disease, 23
I-Fan Wang, Lien-Szu Wu, C. Shen (2008)
TDP-43: an emerging new player in neurodegenerative diseases.Trends in molecular medicine, 14 11
L. Pellizzoni, J. Yong, G. Dreyfuss (2002)
Essential Role for the SMN Complex in the Specificity of snRNP AssemblyScience, 298
C. Lagier-Tourenne, D. Cleveland (2009)
Rethinking ALS: The FUS about TDP-43Cell, 136
Mariàngels Planell-Saguer, D. Schroeder, M. Rodicio, G. Cox, Z. Mourelatos (2009)
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.Human molecular genetics, 18 12
Z. Mourelatos, Linda Abel, J. Yong, N. Kataoka, G. Dreyfuss (2001)
SMN interacts with a novel family of hnRNP and spliceosomal proteinsThe EMBO Journal, 20
M. Dejesus‐Hernandez, I. Mackenzie, B. Boeve, A. Boxer, M. Baker, Nicola Rutherford, Alexandra Nicholson, N. Finch, H. Flynn, J. Adamson, N. Kouri, Aleksandra Wojtas, Pheth Sengdy, G. Hsiung, A. Karydas, W. Seeley, K. Josephs, G. Coppola, D. Geschwind, Z. Wszolek, H. Feldman, D. Knopman, R. Petersen, B. Miller, D. Dickson, K. Boylan, N. Graff-Radford, R. Rademakers (2011)
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALSNeuron, 72
Maria Camats, S. Guil, M. Kokolo, M. Bach-Elias (2008)
P68 RNA Helicase (DDX5) Alters Activity of Cis- and Trans-Acting Factors of the Alternative Splicing of H-RasPLoS ONE, 3
S. Slaugenhaupt, A. Blumenfeld, Sandra Gill, M. Leyne, J. Mull, M. Cuajungco, C. Liebert, B. Chadwick, M. Idelson, L. Reznik, C. Robbins, I. Makałowska, M. Brownstein, D. Krappmann, C. Scheidereit, C. Maayan, F. Axelrod, J. Gusella (2001)
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.American journal of human genetics, 68 3
Qin Li, Ji-Ann Lee, D. Black (2007)
Neuronal regulation of alternative pre-mRNA splicingNature Reviews Neuroscience, 8
Y. Kawaguchi, Jeffrey Kovacs, A. McLaurin, J. Vance, A. Ito, T. Yao (2003)
The Deacetylase HDAC6 Regulates Aggresome Formation and Cell Viability in Response to Misfolded Protein StressCell, 115
L. Pellizzoni, B. Charroux, G. Dreyfuss (1999)
SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.Proceedings of the National Academy of Sciences of the United States of America, 96 20
Ulf-Peter Guenther, Lusy Handoko, B. Laggerbauer, S. Jablonka, A. Chari, Mona Alzheimer, J. Ohmer, Oliver Plöttner, Niels Gehring, A. Sickmann, K. Au, M. Schuelke, U. Fischer (2009)
IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).Human molecular genetics, 18 7
Yuli Sun, M. Grimmler, V. Schwarzer, F. Schoenen, U. Fischer, B. Wirth (2005)
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophyHuman Mutation, 25
Qiuju Han, Jun Lu, Jizhou Duan, D. Su, Xiaozhe Hou, Fen Li, Xiuli Wang, Baiqu Huang (2008)
Gcn5- and Elp3-induced histone H3 acetylation regulates hsp70 gene transcription in yeast.The Biochemical journal, 409 3
A. Chen-Plotkin, V. Lee, J. Trojanowski (2010)
TAR DNA-binding protein 43 in neurodegenerative diseaseNature Reviews Neurology, 6
S. Chi, Julie Zang, Aldo Mele, R. Darnell (2009)
Ago HITS-CLIP decodes miRNA-mRNA interaction mapsNature, 460
Y. Ayala, F. Pagani, F. Baralle (2006)
TDP43 depletion rescues aberrant CFTR exon 9 skippingFEBS Letters, 580
D. Handy, Gaozhen Hang, John Scolaro, Nicole Metes, Nadia Razaq, Yi Yang, Joseph Loscalzo (2006)
The Short N-terminal Domains of STIM1 and STIM2 Control the Activation Kinetics of Orai1 Channels*The Journal of Biological Chemistry, 284
Yan Li, P. Ray, Elizabeth Rao, Chen Shi, Weirui Guo, Xiaoping Chen, E. Woodruff, K. Fushimi, Jane Wu (2010)
A Drosophila model for TDP-43 proteinopathyProceedings of the National Academy of Sciences, 107
P. Dion, H. Daoud, G. Rouleau (2009)
Genetics of motor neuron disorders: new insights into pathogenic mechanismsNature Reviews Genetics, 10
J. Houseley, D. Tollervey (2009)
The Many Pathways of RNA DegradationCell, 136
X. He, D. Carter (1993)
Atomic structure and chemistry of human serum albuminNature, 364
J. Dostie, G. Dreyfuss (2002)
Translation Is Required to Remove Y14 from mRNAs in the CytoplasmCurrent Biology, 12
立石 貴久 (2011)
Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation
M. Moreira, S. Klur, M. Watanabe, A. Nemeth, I. Ber, J. Moniz, C. Tranchant, P. Aubourg, M. Tazir, L. Schöls, M. Pandolfo, J. Schulz, J. Pouget, P. Calvas, M. Shizuka-Ikeda, M. Shoji, Makoto Tanaka, L. Izatt, C. Shaw, A. M'zahem, E. Dunne, P. Bomont, T. Benhassine, N. Bouslam, G. Stevanin, A. Brice, J. Guimarães, P. Mendonça, C. Barbot, P. Coutinho, J. Sequeiros, A. Dürr, J. Warter, M. Koenig (2004)
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Nature Genetics, 36
Meixia Che, Yajun Jiang, Yuan‐yuan Xie, Leilei Jiang, Hong-Yu Hu (2011)
Aggregation of the 35‐kDa fragment of TDP‐43 causes formation of cytoplasmic inclusions and alteration of RNA processingThe FASEB Journal, 25
Laure Jobert, M. Argentini, L. Tora (2009)
PRMT1 mediated methylation of TAF15 is required for its positive gene regulatory function.Experimental cell research, 315 7
(2011)
A conserved mechanism of DEAD-box ATPase activation by nucleoporins and InsP6 in mRNA export
G. Molnar, A. Crozat, S. Kraeft, Q. Dou, Lanren Chen, A. Pardee (1997)
Association of the mammalian helicase MAH with the pre-mRNA splicing complex.Proceedings of the National Academy of Sciences of the United States of America, 94 15
J. Yong, M. Kasim, Jennifer Bachorik, L. Wan, G. Dreyfuss (2010)
Gemin5 delivers snRNA precursors to the SMN complex for snRNP biogenesis.Molecular cell, 38 4
John Dimos, Kit Rodolfa, K. Niakan, L. Weisenthal, H. Mitsumoto, Wendy Chung, Gist Croft, G. Saphier, R. Leibel, R. Goland, H. Wichterle, C. Henderson, K. Eggan (2008)
Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor NeuronsScience, 321
Arlen Johnson, E. Lund, J. Dahlberg (2002)
Nuclear export of ribosomal subunits.Trends in biochemical sciences, 27 11
Abel Alcázar-Román, Elizabeth Tran, S. Guo, S. Wente (2006)
Inositol hexakisphosphate and Gle1 activate the DEAD-box protein Dbp5 for nuclear mRNA exportNature Cell Biology, 8
Joo-Yong Lee, Y. Nagano, J. Taylor, K. Lim, T. Yao (2010)
Disease-causing mutations in Parkin impair mitochondrial ubiquitination, aggregation, and HDAC6-dependent mitophagyThe Journal of Cell Biology, 189
A. Chari, E. Paknia, U. Fischer (2009)
The role of RNP biogenesis in spinal muscular atrophy.Current opinion in cell biology, 21 3
T. Maddatu, S. Garvey, D. Schroeder, T. Hampton, G. Cox (2004)
Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy.Human molecular genetics, 13 11
Zhenxi Zhang, F. Lotti, K. Dittmar, Ihab Younis, L. Wan, M. Kasim, G. Dreyfuss (2008)
SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in SplicingCell, 133
Sergej Djuranovic, A. Nahvi, R. Green (2011)
A Parsimonious Model for Gene Regulation by miRNAsScience, 331
Yick-Bun Chan, I. Miguel-Aliaga, C. Franks, N. Thomas, B. Trülzsch, D. Sattelle, K. Davies, M. Heuvel (2003)
Neuromuscular defects in a Drosophila survival motor neuron gene mutant.Human molecular genetics, 12 12
Sunghou Lee, Zheng Wu, K. Sandberg, S. Yoo, C. Maric (2006)
Posttranscriptional mechanisms contribute to osmotic regulation of ANG type 1 receptors in cultured rat renomedullary interstitial cells.American journal of physiology. Regulatory, integrative and comparative physiology, 290 1
K. Volkening, C. Leystra‐Lantz, Wenchang Yang, H. Jaffee, M. Strong (2009)
Tar DNA binding protein of 43 kDa (TDP-43), 14-3-3 proteins and copper/zinc superoxide dismutase (SOD1) interact to modulate NFL mRNA stability. Implications for altered RNA processing in amyotrophic lateral sclerosis (ALS)Brain Research, 1305
E. Buratti, F. Baralle (2008)
Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease.Frontiers in bioscience : a journal and virtual library, 13
M. Wahl, C. Will, R. Lührmann (2009)
The Spliceosome: Design Principles of a Dynamic RNP MachineCell, 136
H. Zinszner, R. Albalat, D. Ron (1994)
A novel effector domain from the RNA-binding protein TLS or EWS is required for oncogenic transformation by CHOP.Genes & development, 8 21
T. Hoang, W. Peng, Emmanuel Vanrobays, N. Krogan, Shawna Hiley, A. Beyer, Y. Osheim, J. Greenblatt, T. Hughes, D. Lafontaine (2005)
Esf2p, a U3-Associated Factor Required for Small-Subunit Processome Assembly and CompactionMolecular and Cellular Biology, 25
W. Law, Kendra Cann, G. Hicks (2006)
TLS, EWS and TAF15: a model for transcriptional integration of gene expression.Briefings in functional genomics & proteomics, 5 1
Jessica Spitzer, S. Ugras, S. Runge, Penelope Decarolis, C. Antonescu, T. Tuschl, S. Singer (2011)
mRNA and protein levels of FUS, EWSR1, and TAF15 are upregulated in liposarcomaGenes, 50
X. Shan, Po-Min Chiang, D. Price, P. Wong (2010)
Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic miceProceedings of the National Academy of Sciences, 107
E. Buratti, L. Conti, C. Stuani, M. Romano, M. Baralle, F. Baralle (2010)
Nuclear factor TDP‐43 can affect selected microRNA levelsThe FEBS Journal, 277
M. Gitcho, R. Baloh, S. Chakraverty, K. Mayo, J. Norton, D. Levitch, K. Hatanpaa, C. White, E. Bigio, R. Caselli, M. Baker, M. Al-Lozi, J. Morris, A. Pestronk, R. Rademakers, A. Goate, N. Cairns (2008)
TDP‐43 A315T mutation in familial motor neuron diseaseAnnals of Neurology, 63
Y. Ayala, S. Pantano, A. D’Ambrogio, E. Buratti, Antonia Brindisi, C. Marchetti, M. Romano, F. Baralle (2005)
Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function.Journal of molecular biology, 348 3
C. Vance, B. Rogelj, T. Hortobágyi, K. Vos, A. Nishimura, J. Sreedharan, Xun Hu, Bradley Smith, D. Ruddy, Paul Wright, J. Ganesalingam, K. Williams, V. Tripathi, Safa Al-Saraj, A. Al-Chalabi, P. Leigh, I. Blair, G. Nicholson, G. Nicholson, J. Belleroche, J. Gallo, C. Miller, C. Miller, C. Shaw (2009)
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6Science, 323
M. Neumann, L. Kwong, Eddie Lee, E. Kremmer, A. Flatley, yan xu, M. Forman, D. Troost, H. Kretzschmar, J. Trojanowski, V. Lee (2009)
Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathiesActa Neuropathologica, 117
G. Winkler, A. Kristjuhan, H. Erdjument-Bromage, P. Tempst, J. Svejstrup (2002)
Elongator is a histone H3 and H4 acetyltransferase important for normal histone acetylation levels in vivoProceedings of the National Academy of Sciences of the United States of America, 99
S. Millecamps, F. Salachas, C. Cazeneuve, P. Gordon, B. Bricka, A. Camuzat, L. Guillot-nöel, Odile Russaouen, G. Bruneteau, P. Pradat, N. Forestier, N. Vandenberghe, V. Danel-Brunaud, N. Guy, C. Thauvin-Robinet, L. Lacomblez, P. Couratier, D. Hannequin, D. Seilhean, I. Ber, P. Corcia, W. Camu, A. Brice, G. Rouleau, E. Leguern, V. Meininger (2010)
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlationsJournal of Medical Genetics, 47
J. Bose, I-Fan Wang, Li-Chi Hung, W. Tarn, C. Shen (2008)
TDP-43 Overexpression Enhances Exon 7 Inclusion during the Survival of Motor Neuron Pre-mRNA Splicing*Journal of Biological Chemistry, 283
R. Gregory, Kai-ping Yan, G. Amuthan, T. Chendrimada, Behzad Doratotaj, Neil Cooch, R. Shiekhattar (2004)
The Microprocessor complex mediates the genesis of microRNAsNature, 432
Simon Otter, M. Grimmler, Nils Neuenkirchen, A. Chari, A. Sickmann, U. Fischer (2007)
A Comprehensive Interaction Map of the Human Survival of Motor Neuron (SMN) Complex*Journal of Biological Chemistry, 282
A. Chari, M. Golas, Michael Klingenhäger, Nils Neuenkirchen, B. Sander, Clemens Englbrecht, A. Sickmann, H. Stark, U. Fischer (2008)
An Assembly Chaperone Collaborates with the SMN Complex to Generate Spliceosomal SnRNPsCell, 135
C. Tan, H. Eguchi, A. Tagawa, O. Onodera, T. Iwasaki, A. Tsujino, M. Nishizawa, A. Kakita, H. Takahashi (2007)
TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutationActa Neuropathologica, 113
Andrew Elden, Hyung-Jun Kim, M. Hart, A. Chen-Plotkin, Brian Johnson, X. Fang, Maria Armakola, F. Geser, Robert Greene, M. Lu, A. Padmanabhan, Dana Clay, L. McCluskey, L. Elman, D. Juhr, P. Gruber, U. Rüb, G. Auburger, J. Trojanowski, V. Lee, V. Deerlin, N. Bonini, A. Gitler (2010)
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALSNature, 466
L. Igaz, L. Kwong, Eddie Lee, A. Chen-Plotkin, Eric Swanson, T. Unger, J. Malunda, yan xu, M. Winton, J. Trojanowski, V. Lee (2011)
Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice.The Journal of clinical investigation, 121 2
S. Kolb, D. Battle, G. Dreyfuss (2007)
Molecular Functions of the SMN ComplexJournal of Child Neurology, 22
L. Pellizzoni (2007)
Chaperoning ribonucleoprotein biogenesis in health and diseaseEMBO reports, 8
F. Mori, K. Tanji, Hai-xin Zhang, Y. Nishihira, C. Tan, H. Takahashi, K. Wakabayashi (2008)
Maturation process of TDP-43-positive neuronal cytoplasmic inclusions in amyotrophic lateral sclerosis with and without dementiaActa Neuropathologica, 116
Zefeng Wang, C. Burge (2008)
Splicing regulation: from a parts list of regulatory elements to an integrated splicing code.RNA, 14 5
Christine Weirich, J. Erzberger, J. Flick, J. Berger, J. Thorner, K. Weis (2006)
Activation of the DExD/H-box protein Dbp5 by the nuclear-pore protein Gle1 and its coactivator InsP6 is required for mRNA exportNature Cell Biology, 8
Brian Freibaum, R. Chitta, A. High, Paul Taylor (2010)
Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery.Journal of proteome research, 9 2
E. Buratti, Antonia Brindisi, Maurizio Giombi, S. Tisminetzky, Y. Ayala, F. Baralle (2005)
TDP-43 Binds Heterogeneous Nuclear Ribonucleoprotein A/B through Its C-terminal TailJournal of Biological Chemistry, 280
D. Rosen, T. Siddique, D. Patterson, D. Figlewicz, P. Sapp, A. Hentati, D. Donaldson, J. Goto, J. O'Regan, H. Deng, Z. Rahmani, A. Krizus, D. McKenna-Yasek, A. Cayabyab, Sandra Gaston, R. Berger, Rudolph Tanzi, John Halperin, B. Herzfeldt, Raymond Bergh, W. Hung, T. Bird, G. Deng, Donald Mulder, C. Smyth, Nigel Laing, E. Soriano, M. Pericak-Vance, J. Haines, Guy Rouleau, James Gusella, H. Horvitz, Robert Brown (1993)
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosisNature, 362
J. Mendell, C. Rhys, H. Dietz (2002)
Separable Roles for rent1/hUpf1 in Altered Splicing and Decay of Nonsense TranscriptsScience, 298
G. Hicks, Nagendra Singh, Abudi Nashabi, S. Mai, Gracjan Bozek, L. Klewes, Djula Arapovic, E. White, M. Koury, E. Oltz, L. Kaer, H. Ruley (2000)
Fus deficiency in mice results in defective B-lymphocyte development and activation, high levels of chromosomal instability and perinatal deathNature Genetics, 24
Claire Simpson, R. Lemmens, K. Miśkiewicz, Wendy Broom, Valerie Hansen, P. Vught, J. Landers, P. Sapp, P. Sapp, L. Bosch, L. Bosch, J. Knight, B. Neale, M. Turner, J. Veldink, R. Ophoff, R. Ophoff, V. Tripathi, A. Beleza, Meera Shah, P. Proitsi, A. Hoecke, A. Hoecke, P. Carmeliet, H. Horvitz, P. Leigh, C. Shaw, L. Berg, P. Sham, J. Powell, P. Verstreken, Robert Brown, W. Robberecht, W. Robberecht, A. Al-Chalabi (2008)
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degenerationHuman Molecular Genetics, 18
Amila Suraweera, Y. Lim, R. Woods, G. Birrell, Talat Nasim, O. Becherel, M. Lavin (2009)
Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.Human molecular genetics, 18 18
M. Polymenidou, C. Lagier-Tourenne, Kasey Hutt, Stephanie Huelga, Jacqueline Moran, T. Liang, Shuo-Chien Ling, E. Sun, E. Wancewicz, C. Mazur, H. Kordasiewicz, Y. Sedaghat, J. Donohue, L. Shiue, C. Bennett, Gene Yeo, D. Cleveland (2011)
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43Nature neuroscience, 14
Shuping Li, G. Hu (2010)
Angiogenin-mediated rRNA transcription in cancer and neurodegeneration.International journal of biochemistry and molecular biology, 1 1
S. Yamasaki, P. Ivanov, G. Hu, P. Anderson (2009)
Angiogenin cleaves tRNA and promotes stress-induced translational repressionThe Journal of Cell Biology, 185
J. Sreedharan, I. Blair, V. Tripathi, Xun Hu, C. Vance, B. Rogelj, S. Ackerley, S. Ackerley, J. Durnall, K. Williams, E. Buratti, F. Baralle, J. Belleroche, J. Mitchell, P. Leigh, A. Al-Chalabi, C. Miller, C. Miller, G. Nicholson, G. Nicholson, C. Shaw (2008)
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral SclerosisScience, 319
H. Hsieh-Li, Jan-Gowth Chang, Y. Jong, Mei-Hsiang Wu, Nancy Wang, C. Tsai, Hung Li (2000)
A mouse model for spinal muscular atrophyNature Genetics, 24
Shaoping Wu, M. Green (1997)
Identification of a human protein that recognizes the 3′ splice site during the second step of pre‐mRNA splicingThe EMBO Journal, 16
S. Kass, K. Tyc, J. Steitz, B. Sollner‐Webb (1990)
The U3 small nucleolar ribonucleoprotein functions in the first step of preribosomal RNA processingCell, 60
A. Hopper, E. Phizicky (2003)
tRNA transfers to the limelight.Genes & development, 17 2
Agnès Belly, Françoise Moreau-Gachelin, Rémy Sadoul, Yves Goldberg (2005)
Delocalization of the multifunctional RNA splicing factor TLS/FUS in hippocampal neurones: exclusion from the nucleus and accumulation in dendritic granules and spine headsNeuroscience Letters, 379
James Tollervey, T. Curk, B. Rogelj, M. Briese, M. Cereda, M. Kayikci, J. König, T. Hortobágyi, A. Nishimura, V. Župunski, R. Patani, S. Chandran, G. Rot, B. Zupan, C. Shaw, J. Ule (2011)
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.Nature neuroscience, 14 4
M. Moore, N. Proudfoot (2009)
Pre-mRNA Processing Reaches Back toTranscription and Ahead to TranslationCell, 136
M. Ibba, D. Söll (2000)
Aminoacyl-tRNA synthesis.Annual review of biochemistry, 69
Katja Grohmann, W. Rossoll, I. Kobsar, B. Holtmann, S. Jablonka, C. Wessig, G. Stoltenburg‐Didinger, U. Fischer, C. Hübner, R. Martini, M. Sendtner (2004)
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).Human molecular genetics, 13 18
G. Dreyfuss, Yang Choi, Stephen Adam (1984)
Characterization of heterogeneous nuclear RNA-protein complexes in vivo with monoclonal antibodiesMolecular and Cellular Biology, 4
P. Schattner, Angela Brooks, T. Lowe (2005)
The tRNAscan-SE, snoscan and snoGPS web servers for the detection of tRNAs and snoRNAsNucleic Acids Research, 33
Kum-Loong Boon, Shu Xiao, M. McWhorter, T. Donn, E. Wolf-Saxon, M. Bohnsack, C. Moens, C. Beattie (2009)
Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects.Human molecular genetics, 18 19
V. Subramanian, Ying Feng (2007)
A new role for angiogenin in neurite growth and pathfinding: implications for amyotrophic lateral sclerosis.Human molecular genetics, 16 12
H. Kovar (2010)
Dr. Jekyll and Mr. Hyde: The Two Faces of the FUS/EWS/TAF15 Protein FamilySarcoma, 2011
E. Kabashi, P. Valdmanis, P. Dion, D. Spiegelman, B. McConkey, C. Velde, J. Bouchard, L. Lacomblez, K. Pochigaeva, F. Salachas, P. Pradat, W. Camu, V. Meininger, N. Dupré, G. Rouleau (2008)
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosisNature Genetics, 40
Xuhang Liu, K. Fortin, Z. Mourelatos (2008)
MicroRNAs: Biogenesis and Molecular FunctionsBrain Pathology, 18
Yosho FukitaSQ, Tatsunobu-Ryushin MizutaTII, Michio ShirozuS, K. Ozawa, Akira ShimizuT, Tasuku HonjoSQS (1993)
The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region.The Journal of biological chemistry, 268 23
P. Mäkelä-Bengs, Niklas Järvinen, K. Vuopala, A. Suomalainen, J. Ignatius, Mari Sipilä, R. Herva, A. Palotie, L. Peltonen (1998)
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.American journal of human genetics, 63 2
R. Giegé (2008)
Toward a more complete view of tRNA biologyNature Structural &Molecular Biology, 15
S. Paushkin, Meenal Patel, B. Furia, S. Peltz, C. Trotta (2004)
Identification of a Human Endonuclease Complex Reveals a Link between tRNA Splicing and Pre-mRNA 3′ End FormationCell, 117
Bo Huang, Marcus Johansson, A. Byström (2005)
An early step in wobble uridine tRNA modification requires the Elongator complex.RNA, 11 4
H. Nousiainen, M. Kestilä, N. Pakkasjärvi, Heli Honkala, Satu Kuure, J. Tallila, K. Vuopala, J. Ignatius, R. Herva, L. Peltonen (2008)
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron diseaseNature Genetics, 40
T. Sato, S. Takeuchi, A. Saito, W. Ding, H. Bamba, H. Matsuura, Y. Hisa, I. Tooyama, M. Urushitani (2009)
Axonal ligation induces transient redistribution of TDP-43 in brainstem motor neuronsNeuroscience, 164
D. Licatalosi, Aldo Mele, J. Fak, J. Ule, M. Kayikci, S. Chi, Tyson Clark, A. Schweitzer, J. Blume, Xuning Wang, J. Darnell, R. Darnell (2008)
HITS-CLIP yields genome-wide insights into brain alternative RNA processingNature, 456
S. Cook, K. Johnson, R. Bronson, M. Davisson (1995)
Neuromuscular degeneration (nmd): a mutation on mouse Chromosome 19 that causes motor neuron degenerationMammalian Genome, 6
Hurng‐Yi Wang, I-Fan Wang, J. Bose, C. Shen (2004)
Structural diversity and functional implications of the eukaryotic TDP gene family.Genomics, 83 1
J. Sanford, J. Ellis, J. Cáceres (2005)
Multiple roles of arginine/serine-rich splicing factors in RNA processing.Biochemical Society transactions, 33 Pt 3
R. Fujii, S. Okabe, T. Urushido, Kiyoshi Inoue, Atsushi Yoshimura, T. Tachibana, T. Nishikawa, G. Hicks, T. Takumi (2005)
The RNA Binding Protein TLS Is Translocated to Dendritic Spines by mGluR5 Activation and Regulates Spine MorphologyCurrent Biology, 15
N. Pakkasjärvi, L. Kerosuo, H. Nousiainen, M. Gentile, J. Saharinen, S. Suhonen, H. Sariola, L. Peltonen, M. Kestilä, K. Wartiovaara (2007)
Neural precursor cells from a fatal human motoneuron disease differentiate despite aberrant gene expressionDevelopmental Neurobiology, 67
N. Watkins, I. Lemm, Dierk Ingelfinger, C. Schneider, M. Hossbach, H. Urlaub, R. Lührmann (2004)
Assembly and maturation of the U3 snoRNP in the nucleoplasm in a large dynamic multiprotein complex.Molecular cell, 16 5
Seiji Kameoka, P. Duque, M. Konarska (2004)
p54nrb associates with the 5′ splice site within large transcription/splicing complexesThe EMBO Journal, 23
F. Dutheil, P. Beaune, C. Tzourio, M. Loriot, A. Elbaz (2010)
Interaction between ABCB1 and professional exposure to organochlorine insecticides in Parkinson disease.Archives of neurology, 67 6
G. Narkis, R. Ofir, D. Landau, E. Manor, M. Volokita, Relly Hershkowitz, K. Elbedour, O. Birk (2007)
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.American journal of human genetics, 81 3
L. Schramm, N. Hernandez (2002)
Recruitment of RNA polymerase III to its target promoters.Genes & development, 16 20
J. Rothstein (2009)
Current hypotheses for the underlying biology of amyotrophic lateral sclerosisAnnals of Neurology, 65
S. Barmada, G. Skibinski, E. Korb, Elizabeth Rao, Jane Wu, S. Finkbeiner (2010)
Cytoplasmic Mislocalization of TDP-43 Is Toxic to Neurons and Enhanced by a Mutation Associated with Familial Amyotrophic Lateral SclerosisThe Journal of Neuroscience, 30
Gabriel Otero, J. Fellows, Yang Li, T. Bizemont, A. Dirac, C. Gustafsson, H. Erdjument-Bromage, P. Tempst, J. Svejstrup (1999)
Elongator, a multisubunit component of a novel RNA polymerase II holoenzyme for transcriptional elongation.Molecular cell, 3 1
A. Shatkin, J. Manley (2000)
The ends of the affair: Capping and polyadenylationNature Structural Biology, 7
M. Strong (2010)
The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS)Journal of the Neurological Sciences, 288
M. Neumann, Deepak Sampathu, L. Kwong, Adam Truax, Matthew Micsenyi, T. Chou, J. Bruce, T. Schuck, M. Grossman, C. Clark, L. McCluskey, B. Miller, E. Masliah, I. Mackenzie, H. Feldman, W. Feiden, H. Kretzschmar, J. Trojanowski, V. Lee (2006)
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral SclerosisScience, 314
Y. Ayala, P. Zago, A. D’Ambrogio, Ya-fei Xu, L. Petrucelli, E. Buratti, F. Baralle (2008)
Structural determinants of the cellular localization and shuttling of TDP-43Journal of Cell Science, 121
C. Sephton, Can Cenik, Alper Kucukural, E. Dammer, B. Cenik, Yuhong Han, Colleen Dewey, F. Roth, J. Herz, Junmin Peng, M. Moore, Gang Yu (2010)
Identification of Neuronal RNA Targets of TDP-43-containing Ribonucleoprotein ComplexesThe Journal of Biological Chemistry, 286
David Wu, Wenhao Yu, H. Kishikawa, R. Folkerth, A. Iafrate, Yiping Shen, W. Xin, K. Sims, G. Hu (2007)
Angiogenin loss‐of‐function mutations in amyotrophic lateral sclerosisAnnals of Neurology, 62
D. Cleveland, J. Rothstein (2001)
From charcot to lou gehrig: deciphering selective motor neuron death in alsNature Reviews Neuroscience, 2
A. Bertolotti, Y. Lutz, D. Heard, P. Chambon, L. Tora (1996)
hTAF(II)68, a novel RNA/ssDNA‐binding protein with homology to the pro‐oncoproteins TLS/FUS and EWS is associated with both TFIID and RNA polymerase II.The EMBO Journal, 15
T. Kiss (2002)
Small Nucleolar RNAs An Abundant Group of Noncoding RNAs with Diverse Cellular FunctionsCell, 109
E. Buratti, F. Baralle (2001)
Characterization and Functional Implications of the RNA Binding Properties of Nuclear Factor TDP-43, a Novel Splicing Regulator ofCFTR Exon 9*The Journal of Biological Chemistry, 276
Katja Grohmann, M. Schuelke, A. Diers, K. Hoffmann, B. Lucke, C. Adams, E. Bertini, Hajnalka Leonhardt-Horti, F. Muntoni, R. Ouvrier, A. Pfeufer, R. Rossi, L. Maldergem, J. Wilmshurst, T. Wienker, M. Sendtner, S. Rudnik-Schöneborn, K. Zerres, C. Hübner (2001)
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1Nature Genetics, 29
R. Murphy, S. Wente (1996)
An RNA-export mediator with an essential nuclear export signalNature, 383
J. Moroianu, J. Riordan (1994)
Nuclear translocation of angiogenin in proliferating endothelial cells is essential to its angiogenic activity.Proceedings of the National Academy of Sciences of the United States of America, 91
L. Corrado, R. Bo, B. Castellotti, A. Ratti, Cristina Cereda, S. Penco, G. Soraru', Y. Carlomagno, S. Ghezzi, V. Pensato, C. Colombrita, S. Gagliardi, L. Cozzi, V. Orsetti, M. Mancuso, G. Siciliano, L. Mazzini, G. Comi, C. Gellera, M. Ceroni, S. D'alfonso, V. Silani (2009)
Mutations of FUS gene in sporadic amyotrophic lateral sclerosisJournal of Medical Genetics, 47
D. Bartel (2009)
MicroRNAs: Target Recognition and Regulatory FunctionsCell, 136
D. Bühler, V. Raker, Reinhard Lührmann, Utz Fischer (1999)
Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy.Human molecular genetics, 8 13
O. Isken, L. Maquat (2008)
The multiple lives of NMD factors: balancing roles in gene and genome regulationNature Reviews Genetics, 9
Hongxia Zhou, Cao Huang, Han Chen, Dian Wang, C. Landel, P. Xia, R. Bowser, Yong-jian Liu, X. Xia (2010)
Transgenic Rat Model of Neurodegeneration Caused by Mutation in the TDP GenePLoS Genetics, 6
K. Martin, A. Ephrussi (2009)
mRNA Localization: Gene Expression in the Spatial DimensionCell, 136
J. Gal, Jiayu Zhang, D. Kwinter, Jianjun Zhai, Hongge Jia, J. Jia, Haining Zhu (2011)
Nuclear localization sequence of FUS and induction of stress granules by ALS mutantsNeurobiology of Aging, 32
I. Wegorzewska, S. Bell, N. Cairns, T. Miller, R. Baloh (2009)
TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degenerationProceedings of the National Academy of Sciences, 106
G. Narkis, R. Ofir, E. Manor, D. Landau, K. Elbedour, O. Birk (2007)
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.American journal of human genetics, 81 3
M. Hirano, C. Quinzii, H. Mitsumoto, A. Hays, J. Roberts, Patricia Richard, L. Rowland (2011)
Senataxin mutations and amyotrophic lateral sclerosisAmyotrophic Lateral Sclerosis, 12
J. Sebastià, D. Kieran, B. Breen, M. King, D. Netteland, D. Joyce, Susan Fitzpatrick, Cormac Taylor, J. Prehn, Prof. H.M, Prehn (2009)
Angiogenin protects motoneurons against hypoxic injuryCell Death and Differentiation, 16
Zhong Wang, M. Gerstein, M. Snyder (2009)
RNA-Seq: a revolutionary tool for transcriptomicsNature Reviews Genetics, 10
M. Hallier, A. Lerga, S. Barnache, A. Tavitian, F. Moreau-Gachelin (1998)
The Transcription Factor Spi-1/PU.1 Interacts with the Potential Splicing Factor TLS*The Journal of Biological Chemistry, 273
E. Buratti, F. Baralle (2010)
The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulationRNA Biology, 7
U. Fischer, Qing Liu, G. Dreyfuss (1997)
The SMN–SIP1 Complex Has an Essential Role in Spliceosomal snRNP BiogenesisCell, 90
G. Cox, C. Mahaffey, W. Frankel (1998)
Identification of the Mouse Neuromuscular Degeneration Gene and Mapping of a Second Site Suppressor AlleleNeuron, 21
Brian Johnson, J. McCaffery, S. Lindquist, A. Gitler (2008)
A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicityProceedings of the National Academy of Sciences, 105
Qing Liu, U. Fischer, Fan Wang, G. Dreyfuss (1997)
The Spinal Muscular Atrophy Disease Gene Product, SMN, and Its Associated Protein SIP1 Are in a Complex with Spliceosomal snRNP ProteinsCell, 90
Mary Thomas, C. Chiang (2006)
The General Transcription Machinery and General CofactorsCritical Reviews in Biochemistry and Molecular Biology, 41
F. Kendirgi, D. Barry, E. Griffis, M. Powers, S. Wente (2003)
An essential role for hGle1 nucleocytoplasmic shuttling in mRNA exportThe Journal of Cell Biology, 160
C. Lorson, E. Hahnen, E. Androphy, B. Wirth (1999)
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.Proceedings of the National Academy of Sciences of the United States of America, 96 11
M. Stewart (2010)
Nuclear export of mRNA.Trends in biochemical sciences, 35 11
M. Giordana, M. Piccinini, S. Grifoni, G. Marco, M. Vercellino, M. Magistrello, A. Pellerino, B. Buccinnà, E. Lupino, M. Rinaudo (2010)
TDP‐43 Redistribution is an Early Event in Sporadic Amyotrophic Lateral SclerosisBrain Pathology, 20
F. Gabanella, Matthew Butchbach, Luciano Saieva, C. Carissimi, A. Burghes, L. Pellizzoni (2007)
Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPsPLoS ONE, 2
Karl Shpargel, A. Matera (2005)
Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins.Proceedings of the National Academy of Sciences of the United States of America, 102 48
Motor neuron diseases (MNDs) are neurodegenerative disorders that lead to paralysis and typically carry a dismal prognosis. In children, inherited spinal muscular atrophies are the predominant diseases that affect motor neurons, whereas in adults, amyotrophic lateral sclerosis, which is inherited but mostly sporadic, is the most common MND. In recent years, we have witnessed a revolution in this field, sparked by the discovery of the genes that cause MNDs. Remarkably, at least 10 genes, whose products are either RNA-binding proteins or proteins that function in RNA processing and regulation, cause MNDs and place the dysregulation of RNA pathways at the center of motor neuron degeneration pathogenesis.
Annual Review of Pathology: Mechanisms of Disease – Annual Reviews
Published: Feb 28, 2012
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