Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
Lee, Youn-Bok, Chen, Han-Jou, Peres, João N., Gomez-Deza, Jorge, Attig, Jan, Štalekar, Maja, Troakes, Claire, Nishimura, Agnes L., Scotter, Emma L., Vance, Caroline, Adachi, Yoshitsugu, Sardone, Valentina, Miller, Jack W., Smith, Bradley N., Gallo, Jean-Marc, Ule, Jernej, Hirth, Frank, Rogelj, Boris, Houart, Corinne, Shaw, Christopher E.
Published in Cell reports (Cambridge) (01.12.2013)
Published in Cell reports (Cambridge) (01.12.2013)
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Journal Article
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43
Ule, Jernej, Tollervey, James R, Curk, Toma, Rogelj, Boris, Briese, Michael, Cereda, Matteo, Kayikci, Melis, König, Julian, Hortobágyi, Tibor, Nishimura, Agnes L, upunski, Vera, Patani, Rickie, Chandran, Siddharthan, Rot, Gregor, Zupan, Bla, Shaw, Christopher E
Published in Nature neuroscience (01.04.2011)
Published in Nature neuroscience (01.04.2011)
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Journal Article
Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species
Scotter, Emma L, Vance, Caroline, Nishimura, Agnes L, Lee, Youn-Bok, Chen, Han-Jou, Urwin, Hazel, Sardone, Valentina, Mitchell, Jacqueline C, Rogelj, Boris, Rubinsztein, David C, Shaw, Christopher E
Published in Journal of cell science (15.03.2014)
Published in Journal of cell science (15.03.2014)
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Journal Article
The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis
Chen, Han-Jou, Mitchell, Jacqueline C, Novoselov, Sergey, Miller, Jack, Nishimura, Agnes L, Scotter, Emma L, Vance, Caroline A, Cheetham, Michael E, Shaw, Christopher E
Published in Brain (London, England : 1878) (01.05.2016)
Published in Brain (London, England : 1878) (01.05.2016)
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Journal Article
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules
Vance, Caroline, Scotter, Emma L, Nishimura, Agnes L, Troakes, Claire, Mitchell, Jacqueline C, Kathe, Claudia, Urwin, Hazel, Manser, Catherine, Miller, Christopher C, Hortobágyi, Tibor, Dragunow, Mike, Rogelj, Boris, Shaw, Christopher E
Published in Human molecular genetics (01.07.2013)
Published in Human molecular genetics (01.07.2013)
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Journal Article
C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity
Lee, Youn-Bok, Baskaran, Pranetha, Gomez-Deza, Jorge, Chen, Han-Jou, Nishimura, Agnes L, Smith, Bradley N, Troakes, Claire, Adachi, Yoshitsugu, Stepto, Alan, Petrucelli, Leonard, Gallo, Jean-Marc, Hirth, Frank, Rogelj, Boris, Guthrie, Sarah, Shaw, Christopher E
Published in Human molecular genetics (15.12.2017)
Published in Human molecular genetics (15.12.2017)
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Journal Article
Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations
Zhang, Zhijun, Almeida, Sandra, Lu, Yubing, Nishimura, Agnes L, Peng, Lingtao, Sun, Danqiong, Wu, Bei, Karydas, Anna M, Tartaglia, Maria C, Fong, Jamie C, Miller, Bruce L, Farese, Jr, Robert V, Moore, Melissa J, Shaw, Christopher E, Gao, Fen-Biao
Published in PloS one (15.10.2013)
Published in PloS one (15.10.2013)
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Journal Article
A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis
Nishimura, Agnes L., Mitne-Neto, Miguel, Silva, Helga C.A., Richieri-Costa, Antônio, Middleton, Susan, Cascio, Duilio, Kok, Fernando, Oliveira, João R.M., Gillingwater, Tom, Webb, Jeanette, Skehel, Paul, Zatz, Mayana
Published in American journal of human genetics (01.11.2004)
Published in American journal of human genetics (01.11.2004)
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Journal Article
Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease Modelling
Hedges, Erin C, Cocks, Graham, Shaw, Christopher E, Nishimura, Agnes L
Published in Genes (18.05.2023)
Published in Genes (18.05.2023)
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Journal Article
Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11
Hedges, Erin C., Topp, Simon, Shaw, Christopher E., Nishimura, Agnes L.
Published in Stem cell research (01.04.2021)
Published in Stem cell research (01.04.2021)
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Journal Article
Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders
Hortobágyi, Tibor, Troakes, Claire, Nishimura, Agnes L., Vance, Caroline, van Swieten, John C., Seelaar, Harro, King, Andrew, Al-Sarraj, Safa, Rogelj, Boris, Shaw, Christopher E.
Published in Acta neuropathologica (01.04.2011)
Published in Acta neuropathologica (01.04.2011)
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Journal Article
Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells
Nishimura, Agnes L, Shum, Carole, Scotter, Emma L, Abdelgany, Amr, Sardone, Valentina, Wright, Jamie, Lee, Youn-Bok, Chen, Han-Jou, Bilican, Bilada, Carrasco, Monica, Maniatis, Tom, Chandran, Siddharthan, Rogelj, Boris, Gallo, Jean-Marc, Shaw, Christopher E
Published in PloS one (20.03.2014)
Published in PloS one (20.03.2014)
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Journal Article
C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity
Selvaraj, Bhuvaneish T., Livesey, Matthew R., Zhao, Chen, Gregory, Jenna M., James, Owain T., Cleary, Elaine M., Chouhan, Amit K., Gane, Angus B., Perkins, Emma M., Dando, Owen, Lillico, Simon G., Lee, Youn-Bok, Nishimura, Agnes L., Poreci, Urjana, Thankamony, Sai, Pray, Meryll, Vasistha, Navneet A., Magnani, Dario, Borooah, Shyamanga, Burr, Karen, Story, David, McCampbell, Alexander, Shaw, Christopher E., Kind, Peter C., Aitman, Timothy J., Whitelaw, C. Bruce A., Wilmut, Ian, Smith, Colin, Miles, Gareth B., Hardingham, Giles E., Wyllie, David J. A., Chandran, Siddharthan
Published in Nature communications (24.01.2018)
Published in Nature communications (24.01.2018)
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Journal Article
Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration
Nishimura, Agnes L., Župunski, Vera, Troakes, Claire, Kathe, Claudia, Fratta, Pietro, Howell, Michael, Gallo, Jean–Marc, Hortobágyi, Tibor, Shaw, Christopher E., Rogelj, Boris
Published in Brain (London, England : 1878) (01.06.2010)
Published in Brain (London, England : 1878) (01.06.2010)
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Journal Article
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
de Majo, Martina, Topp, Simon D., Smith, Bradley N., Nishimura, Agnes L., Chen, Han-Jou, Gkazi, Athina Soragia, Miller, Jack, Wong, Chun Hao, Vance, Caroline, Baas, Frank, ten Asbroek, Anneloor L.M.A., Kenna, Kevin P., Ticozzi, Nicola, Redondo, Alberto Garcia, Esteban-Pérez, Jesús, Tiloca, Cinzia, Verde, Federico, Duga, Stefano, Morrison, Karen E., Shaw, Pamela J., Kirby, Janine, Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Glass, Jonathan D., de Belleroche, Jacqueline, Gellera, Cinzia, Ratti, Antonia, Al-Chalabi, Ammar, Brown, Robert H., Silani, Vincenzo, Landers, John E., Shaw, Christopher E.
Published in Neurobiology of aging (01.11.2018)
Published in Neurobiology of aging (01.11.2018)
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Journal Article
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons
Shum, Carole, Hedges, Erin C., Allison, Joseph, Lee, Youn-bok, Arias, Natalia, Cocks, Graham, Chandran, Siddharthan, Ruepp, Marc-David, Shaw, Christopher E., Nishimura, Agnes L.
Published in Stem cell reports (13.02.2024)
Published in Stem cell reports (13.02.2024)
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Journal Article
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay
Gotkine, Marc, de Majo, Martina, Wong, Chun Hao, Topp, Simon D., Michaelson-Cohen, Rachel, Epsztejn-Litman, Silvina, Eiges, Rachel, Y, Yossef Lerner, Kanaan, Moein, Shaked, Hagar Mor, Alahmady, Nada, Vance, Caroline, Newhouse, Stephen J., Breen, Gerome, Nishimura, Agnes L., Shaw, Christopher E., Smith, Bradley N.
Published in Neurobiology of aging (01.10.2021)
Published in Neurobiology of aging (01.10.2021)
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