ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

por King, Andrew, Troakes, Claire, Smith, Bradley, Nolan, Matthew, Curran, Olimpia, Vance, Caroline, Shaw, Christopher E., Al-Sarraj, Safa
Publicado 2015

Identification of a novel interaction of FUS and syntaphilin may explain synaptic and mitochondrial abnormalities caused by ALS mutations

por Salam, Shaakir, Tacconelli, Sara, Smith, Bradley N., Mitchell, Jacqueline C., Glennon, Elizabeth, Nikolaou, Nikolas, Houart, Corinne, Vance, Caroline
Publicado 2021

Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUS(WT) transgenic mice

por So, Eva, Mitchell, Jacqueline C, Memmi, Caroline, Chennell, George, Vizcay-Barrena, Gema, Allison, Leanne, Shaw, Christopher E, Vance, Caroline
Publicado 2018

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

Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration

por Trist, Benjamin G., Fifita, Jennifer A., Hogan, Alison, Grima, Natalie, Smith, Bradley, Troakes, Claire, Vance, Caroline, Shaw, Christopher, Al-Sarraj, Safa, Blair, Ian P., Double, Kay L.
Publicado 2022

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

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

por Mitchell, Jacqueline C., McGoldrick, Philip, Vance, Caroline, Hortobagyi, Tibor, Sreedharan, Jemeen, Rogelj, Boris, Tudor, Elizabeth L., Smith, Bradley N., Klasen, Christian, Miller, Christopher C. J., Cooper, Jonathan D., Greensmith, Linda, Shaw, Christopher E.
Publicado 2012

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS

por Mitchell, Jacqueline C, Constable, Remy, So, Eva, Vance, Caroline, Scotter, Emma, Glover, Leanne, Hortobagyi, Tibor, Arnold, Eveline S., Ling, Shuo-Chien, McAlonis, Melissa, Da Cruz, Sandrine, Polymenidou, Magda, Tessarolo, Lino, Cleveland, Don W, Shaw, Christopher E
Publicado 2015

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

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

por Smith, Bradley N., Vance, Caroline, Scotter, Emma L., Troakes, Claire, Wong, Chun Hao, Topp, Simon, Maekawa, Satomi, King, Andrew, Mitchell, Jacqueline C., Lund, Karan, Al-Chalabi, Ammar, Ticozzi, Nicola, Silani, Vincenzo, Sapp, Peter, Brown, Robert H., Landers, John E., Al-Sarraj, Safa, Shaw, Christopher E.
Publicado 2015

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

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

por Thomas-Jinu, Swapna, Gordon, Patricia M., Fielding, Triona, Taylor, Richard, Smith, Bradley N., Snowden, Victoria, Blanc, Eric, Vance, Caroline, Topp, Simon, Wong, Chun-Hao, Bielen, Holger, Williams, Kelly L., McCann, Emily P., Nicholson, Garth A., Pan-Vazquez, Alejandro, Fox, Archa H., Bond, Charles S., Talbot, William S., Blair, Ian P., Shaw, Christopher E., Houart, Corinne
Publicado 2017

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

por Thomas-Jinu, Swapna, Gordon, Patricia M., Fielding, Triona, Taylor, Richard, Smith, Bradley N., Snowden, Victoria, Blanc, Eric, Vance, Caroline, Topp, Simon, Wong, Chun-Hao, Bielen, Holger, Williams, Kelly L., McCann, Emily P., Nicholson, Garth A., Pan-Vazquez, Alejandro, Fox, Archa H., Bond, Charles S., Talbot, William S., Blair, Ian P., Shaw, Christopher E., Houart, Corinne
Publicado 2017

Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord

por Trist, Benjamin G, Genoud, Sian, Roudeau, Stéphane, Rookyard, Alexander, Abdeen, Amr, Cottam, Veronica, Hare, Dominic J, White, Melanie, Altvater, Jens, Fifita, Jennifer A, Hogan, Alison, Grima, Natalie, Blair, Ian P, Kysenius, Kai, Crouch, Peter J, Carmona, Asuncion, Rufin, Yann, Claverol, Stéphane, Van Malderen, Stijn, Falkenberg, Gerald, Paterson, David J, Smith, Bradley, Troakes, Claire, Vance, Caroline, Shaw, Christopher E, Al-Sarraj, Safa, Cordwell, Stuart, Halliday, Glenda, Ortega, Richard, Double, Kay L
Publicado 2022

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

por Rutherford, Nicola J., Zhang, Yong-Jie, Baker, Matt, Gass, Jennifer M., Finch, NiCole A., Xu, Ya-Fei, Stewart, Heather, Kelley, Brendan J., Kuntz, Karen, Crook, Richard J. P., Sreedharan, Jemeen, Vance, Caroline, Sorenson, Eric, Lippa, Carol, Bigio, Eileen H., Geschwind, Daniel H., Knopman, David S., Mitsumoto, Hiroshi, Petersen, Ronald C., Cashman, Neil R., Hutton, Mike, Shaw, Christopher E., Boylan, Kevin B., Boeve, Bradley, Graff-Radford, Neill R., Wszolek, Zbigniew K., Caselli, Richard J., Dickson, Dennis W., Mackenzie, Ian R., Petrucelli, Leonard, Rademakers, Rosa
Publicado 2008

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

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

por Shatunov, Aleksey, Mok, Kin, Newhouse, Stephen, Weale, Michael E, Smith, Bradley, Vance, Caroline, Johnson, Lauren, Veldink, Jan H, van Es, Michael A, van den Berg, Leonard H, Robberecht, Wim, Van Damme, Philip, Hardiman, Orla, Farmer, Anne E, Lewis, Cathryn M, Butler, Amy W, Abel, Olubunmi, Andersen, Peter M, Fogh, Isabella, Silani, Vincenzo, Chiò, Adriano, Traynor, Bryan J, Melki, Judith, Meininger, Vincent, Landers, John E, McGuffin, Peter, Glass, Jonathan D, Pall, Hardev, Leigh, P Nigel, Hardy, John, Brown, Robert H, Powell, John F, Orrell, Richard W, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, Al-Chalabi, Ammar
Publicado 2010

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

por Williams, Kelly L., Topp, Simon, Yang, Shu, Smith, Bradley, Fifita, Jennifer A., Warraich, Sadaf T., Zhang, Katharine Y., Farrawell, Natalie, Vance, Caroline, Hu, Xun, Chesi, Alessandra, Leblond, Claire S., Lee, Albert, Rayner, Stephanie L., Sundaramoorthy, Vinod, Dobson-Stone, Carol, Molloy, Mark P., van Blitterswijk, Marka, Dickson, Dennis W., Petersen, Ronald C., Graff-Radford, Neill R., Boeve, Bradley F., Murray, Melissa E., Pottier, Cyril, Don, Emily, Winnick, Claire, McCann, Emily P., Hogan, Alison, Daoud, Hussein, Levert, Annie, Dion, Patrick A., Mitsui, Jun, Ishiura, Hiroyuki, Takahashi, Yuji, Goto, Jun, Kost, Jason, Gellera, Cinzia, Gkazi, Athina Soragia, Miller, Jack, Stockton, Joanne, Brooks, William S., Boundy, Karyn, Polak, Meraida, Muñoz-Blanco, José Luis, Esteban-Pérez, Jesús, Rábano, Alberto, Hardiman, Orla, Morrison, Karen E., Ticozzi, Nicola, Silani, Vincenzo, de Belleroche, Jacqueline, Glass, Jonathan D., Kwok, John B. J., Guillemin, Gilles J., Chung, Roger S., Tsuji, Shoji, Brown, Robert H., García-Redondo, Alberto, Rademakers, Rosa, Landers, John E., Gitler, Aaron D., Rouleau, Guy A., Cole, Nicholas J., Yerbury, Justin J., Atkin, Julie D., Shaw, Christopher E., Nicholson, Garth A., Blair, Ian P.
Publicado 2016

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

por Johnson, Janel O., Chia, Ruth, Miller, Danny E., Li, Rachel, Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada, Renton, Alan E., Topp, Simon D., Gibbs, J. Raphael, Cookson, Mark R., Sabir, Marya S., Dalgard, Clifton L., Troakes, Claire, Jones, Ashley R., Shatunov, Aleksey, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Ticozzi, Nicola, Silani, Vincenzo, Gellera, Cinzia, Blair, Ian P., Dobson-Stone, Carol, Kwok, John B., Bonkowski, Emily S., Palvadeau, Robin, Tienari, Pentti J., Morrison, Karen E., Shaw, Pamela J., Al-Chalabi, Ammar, Brown, Robert H., Calvo, Andrea, Mora, Gabriele, Al-Saif, Hind, Gotkine, Marc, Leigh, Fawn, Chang, Irene J., Perlman, Seth J., Glass, Ian, Scott, Anna I., Shaw, Christopher E., Basak, A. Nazli, Landers, John E., Chiò, Adriano, Crawford, Thomas O., Smith, Bradley N., Traynor, Bryan J., Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D., Scotter, Emma L., Kenna, Kevin P., Keagle, Pamela, Tiloca, Cinzia, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, King, Andrew, Pensato, Viviana, Castellotti, Barbara, Baas, Frank, ten Asbroek, Anneloor L. M. A., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Stevic, Zorica, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Rademakers, Rosa, van Blitterswijk, Marka, Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Leblond-Manry, Claire, Rouleau, Guy A., Hardiman, Orla, Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D., Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Silani, Vincenzo, Shaw, Christopher E., Landers, John E., Dalgard, Clifton L., Adeleye, Adelani, Soltis, Anthony R., Alba, Camille, Viollet, Coralie, Bacikova, Dagmar, Hupalo, Daniel N., Sukumar, Gauthaman, Pollard, Harvey B., Wilkerson, Matthew D., Martinez, Elisa McGrath, Abramzon, Yevgeniya, Ahmed, Sarah, Arepalli, Sampath, Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexis, Broach, James, Campbell, Roy H., Camu, William, Chia, Ruth, Cooper-Knock, John, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Eicher, John D., England, Bryce K., Faghri, Faraz, Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Geiger, Joshua T., Gerhard, Glenn, Gibbs, J. Raphael, Gibson, Summer B., Glass, Jonathan D., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Hernandez, Dena G., Jansson, Lilja, Kirby, Janine, Kowall, Neil W., Laaksovirta, Hannu, Landeck, Natalie, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel J. L., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Murphy, Natalie A., Myllykangas, Liisa, Nalls, Mike A., Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pickering-Brown, Stuart, Pioro, Erik P., Pletnikova, Olga, Pliner, Hannah A., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Rivera, Alberto, Robberecht, Wim, Rogaeva, Ekaterina, Rollinson, Sara, Rothstein, Jeffrey D., Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Singleton, Andrew B., Smith, Nathan, Stone, David J., Tienari, Pentti J., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Landers, John E., Chiò, Adriano, Traynor, Bryan J., Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Chiò, Adriano, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Dalla Bella, Eleonora, D’Errico, Eustachio, DeMarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M., Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Lauria, Giuseppe, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O., Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Mora, Gabriele, Mosca, Lorena, Murru, Maria R., Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta
Publicado 2021