Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis
Giampetruzzi, Anthony, Danielson, Eric W., Gumina, Valentina, Jeon, Maryangel, Boopathy, Sivakumar, Brown, Robert H., Ratti, Antonia, Landers, John E., Fallini, Claudia
Published in Nature communications (23.08.2019)
Published in Nature communications (23.08.2019)
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Journal Article
ATXN2 intermediate expansions in amyotrophic lateral sclerosis
Glass, Jonathan D, Dewan, Ramita, Ding, Jinhui, Gibbs, J Raphael, Dalgard, Clifton, Keagle, Pamela J, Shankaracharya, García-Redondo, Alberto, Traynor, Bryan J, Chia, Ruth, Landers, John E
Published in Brain (London, England : 1878) (27.08.2022)
Published in Brain (London, England : 1878) (27.08.2022)
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Journal Article
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function
Baron, Desiree M., Fenton, Adam R., Saez-Atienzar, Sara, Giampetruzzi, Anthony, Sreeram, Aparna, Shankaracharya, Keagle, Pamela J., Doocy, Victoria R., Smith, Nathan J., Danielson, Eric W., Andresano, Megan, McCormack, Mary C., Garcia, Jaqueline, Bercier, Valérie, Van Den Bosch, Ludo, Brent, Jonathan R., Fallini, Claudia, Traynor, Bryan J., Holzbaur, Erika L.F., Landers, John E.
Published in Cell reports (Cambridge) (05.04.2022)
Published in Cell reports (Cambridge) (05.04.2022)
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Transcription factor Pebbled/RREB1 regulates injury-induced axon degeneration
Farley, Jonathan E., Burdett, Thomas C., Barria, Romina, Neukomm, Lukas J., Kenna, Kevin P., Landers, John E., Freeman, Marc R.
Published in Proceedings of the National Academy of Sciences - PNAS (06.02.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (06.02.2018)
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Journal Article
Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients
Gonzalez-Perez, Paloma, Woehlbier, Ute, Chian, Ru-Ju, Sapp, Peter, Rouleau, Guy A., Leblond, Claire S., Daoud, Hussein, Dion, Patrick A., Landers, John E., Hetz, Claudio, Brown, Robert H.
Published in Gene (25.07.2015)
Published in Gene (25.07.2015)
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SIRT2- and NRF2-Targeting Thiazole-Containing Compound with Therapeutic Activity in Huntington's Disease Models
Quinti, Luisa, Casale, Malcolm, Moniot, Sébastien, Pais, Teresa F., Van Kanegan, Michael J., Kaltenbach, Linda S., Pallos, Judit, Lim, Ryan G., Naidu, Sharadha Dayalan, Runne, Heike, Meisel, Lisa, Rauf, Nazifa Abdul, Leyfer, Dmitriy, Maxwell, Michele M., Saiah, Eddine, Landers, John E., Luthi-Carter, Ruth, Abagyan, Ruben, Dinkova-Kostova, Albena T., Steegborn, Clemens, Marsh, J. Lawrence, Lo, Donald C., Thompson, Leslie M., Kazantsev, Aleksey G.
Published in Cell chemical biology (21.07.2016)
Published in Cell chemical biology (21.07.2016)
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Structural basis for mutation-induced destabilization of profilin 1 in ALS
Boopathy, Sivakumar, Tania V. Silvas, Maeve Tischbein, Silvia Jansen, Shivender M. Shandilya, Jill A. Zitzewitz, John E. Landers, Bruce L. Goode, Celia A. Schiffer, Daryl A. Bosco
Published in Proceedings of the National Academy of Sciences - PNAS (30.06.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (30.06.2015)
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Journal Article
Novel mutations support a role for Profilin 1 in the pathogenesis of ALS
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
Published in Neurobiology of aging (01.03.2015)
Published in Neurobiology of aging (01.03.2015)
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Journal Article
Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia
Funes, Salome, Jung, Jonathan, Gadd, Del Hayden, Mosqueda, Michelle, Zhong, Jianjun, Shankaracharya, Unger, Matthew, Stallworth, Karly, Cameron, Debra, Rotunno, Melissa S., Dawes, Pepper, Fowler-Magaw, Megan, Keagle, Pamela J., McDonough, Justin A., Boopathy, Sivakumar, Sena-Esteves, Miguel, Nickerson, Jeffrey A., Lutz, Cathleen, Skarnes, William C., Lim, Elaine T., Schafer, Dorothy P., Massi, Francesca, Landers, John E., Bosco, Daryl A.
Published in Nature communications (20.03.2024)
Published in Nature communications (20.03.2024)
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Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy
DUFF, Rachael M, TAY, Valerie, SONG, Jaeguen, DJINOVIC-CARUGO, Kristina, PENTTILÄ, Sini, RAHEEM, Olayinka, REARDON, Katrina, MALANDRINI, Alessandro, GAMBELLI, Simona, VILLANOVA, Marcello, NOWAK, Kristen J, WILLIAMS, David R, HACKMAN, Peter, LANDERS, John E, BROWN, Robert H, UDD, Bjarne, LAING, Nigel G, RAVENSCROFT, Gianina, MCLEAN, Catriona, KENNEDY, Paul, STEINBACH, Alina, SCHÖFFLER, Wiebke, VAN DER VEN, Peter F. M, FÜRST, Dieter O
Published in American journal of human genetics (10.06.2011)
Published in American journal of human genetics (10.06.2011)
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Journal Article
ALS-linked FUS exerts a gain of toxic function involving aberrant p38 MAPK activation
Sama, Reddy Ranjith K., Fallini, Claudia, Gatto, Rodolfo, McKeon, Jeanne E., Song, Yuyu, Rotunno, Melissa S., Penaranda, Saul, Abdurakhmanov, Izrail, Landers, John E., Morfini, Gerardo, Brady, Scott T., Bosco, Daryl A.
Published in Scientific reports (08.03.2017)
Published in Scientific reports (08.03.2017)
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Journal Article
A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
Ingre, Caroline, Landers, John E, Rizik, Naji, Volk, Alexander E, Akimoto, Chizuru, Birve, Anna, Hübers, Annemarie, Keagle, Pamela J, Piotrowska, Katarzyna, Press, Rayomand, Andersen, Peter Munch, Ludolph, Albert C, Weishaupt, Jochen H
Published in Neurobiology of aging (01.06.2013)
Published in Neurobiology of aging (01.06.2013)
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Journal Article
The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1
Perez Carrion, Maria, Pischedda, Francesca, Biosa, Alice, Russo, Isabella, Straniero, Letizia, Civiero, Laura, Guida, Marianna, Gloeckner, Christian J, Ticozzi, Nicola, Tiloca, Cinzia, Mariani, Claudio, Pezzoli, Gianni, Duga, Stefano, Pichler, Irene, Pan, Lifeng, Landers, John E, Greggio, Elisa, Hess, Michael W, Goldwurm, Stefano, Piccoli, Giovanni
Published in Frontiers in molecular neuroscience (28.02.2018)
Published in Frontiers in molecular neuroscience (28.02.2018)
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Journal Article
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia
Tiloca, Cinzia, Ticozzi, Nicola, Pensato, Viviana, Corrado, Lucia, Del Bo, Roberto, Bertolin, Cinzia, Fenoglio, Chiara, Gagliardi, Stella, Calini, Daniela, Lauria, Giuseppe, Castellotti, Barbara, Bagarotti, Alessandra, Corti, Stefania, Galimberti, Daniela, Cagnin, Annachiara, Gabelli, Carlo, Ranieri, Michela, Ceroni, Mauro, Siciliano, Gabriele, Mazzini, Letizia, Cereda, Cristina, Scarpini, Elio, Sorarù, Gianni, Comi, Giacomo P, D'Alfonso, Sandra, Gellera, Cinzia, Ratti, Antonia, Landers, John E, Silani, Vincenzo
Published in Neurobiology of aging (01.05.2013)
Published in Neurobiology of aging (01.05.2013)
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Journal Article
Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq
van Blitterswijk, Marka, Wang, Eric T, Friedman, Brad A, Keagle, Pamela J, Lowe, Patrick, Leclerc, Ashley Lyn, van den Berg, Leonard H, Housman, David E, Veldink, Jan H, Landers, John E
Published in PloS one (08.04.2013)
Published in PloS one (08.04.2013)
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Journal Article
Paraoxonase gene mutations in amyotrophic lateral sclerosis
Ticozzi, Nicola, LeClerc, Ashley Lyn, Keagle, Pamela J., Glass, Jonathan D., Wills, Anne-Marie, van Blitterswijk, Marka, Bosco, Daryl A., Rodriguez-Leyva, Ildefonso, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, McKenna-Yasek, Diane, Sapp, Peter C., Silani, Vincenzo, Furlong, Clement E., Brown Jr, Robert H., Landers, John E.
Published in Annals of neurology (01.07.2010)
Published in Annals of neurology (01.07.2010)
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Journal Article
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
Akçimen, Fulya, Lopez, Elia R., Landers, John E., Nath, Avindra, Chiò, Adriano, Chia, Ruth, Traynor, Bryan J.
Published in Nature reviews. Genetics (01.09.2023)
Published in Nature reviews. Genetics (01.09.2023)
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Journal Article
The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci
Wain, Louise V, Pedroso, Inti, Landers, John E, Breen, Gerome, Shaw, Christopher E, Leigh, P Nigel, Brown, Robert H, Tobin, Martin D, Al-Chalabi, Ammar
Published in PloS one (04.12.2009)
Published in PloS one (04.12.2009)
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