Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion

por Nishimura, Agnes L., Arias, Natalia
Publicado 2021

The Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative Medicine

por Hedges, Erin C., Mehler, Vera J., Nishimura, Agnes L.
Publicado 2016

Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease Modelling

por Hedges, Erin C., Cocks, Graham, Shaw, Christopher E., Nishimura, Agnes L.
Publicado 2023

Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11

por Hedges, Erin C., Topp, Simon, Shaw, Christopher E., Nishimura, Agnes L.
Publicado 2021

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

por 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.
Publicado 2016

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

por 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.
Publicado 2014

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

por 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.
Publicado 2013

Characterising the RNA targets and position-dependent splicing regulation by TDP-43; implications for neurodegenerative diseases

por Tollervey, James R., Curk, Tomaž, Rogelj, Boris, Briese, Michael, Cereda, Matteo, Kayikci, Melis, Hortobágyi, Tibor, Nishimura, Agnes L., Župunski, Vera, Patani, Rickie, Chandran, Siddharthan, Rot, Gregor, Zupan, Blaž, Shaw, Christopher E., Ule, Jernej
Publicado 2011

Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells

por 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.
Publicado 2014

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

por 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
Publicado 2017

Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations

por 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, Robert V., Moore, Melissa J., Shaw, Christopher E., Gao, Fen-Biao
Publicado 2013

Expanded G4C2 repeats linked to C9ORF72 ALS and FTD form length-dependent RNA foci, sequester RNA binding proteins and are neurotoxic

por Lee, Youn-Bok, Chen, Han-Jou, Peres, João N, Gomez, Jorge, Sardone, Valentina, Nishimura, Agnes L, Scotter, Emma, Vance, Caroline, Štalekar, Maja, Adachi, Yoshitsugu, Troakes, Claire, Miller, Jack, Smith, Bradley, Hirth, Frank, Rogelj, Boris, Houart, Corinne, Shaw, Christopher E
Publicado 2013

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

por 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.
Publicado 2013

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca(2+)-permeable AMPA receptor-mediated excitotoxicity

por 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
Publicado 2018

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

por 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.
Publicado 2018