ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function

by 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)

ATXN2 intermediate expansions in amyotrophic lateral sclerosis

by 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)

Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia

by 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

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts

by 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

Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq

by 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

The distinct genetic pattern of ALS in Turkey and novel mutations

by Özoğuz, Aslıhan, Uyan, Özgün, Birdal, Güneş, Iskender, Ceren, Kartal, Ece, Lahut, Suna, Ömür, Özgür, Agim, Zeynep Sena, Eken, Aslı Gündoğdu, Sen, Nesli Ece, Kavak, Pınar, Saygı, Ceren, Sapp, Peter C, Keagle, Pamela, Parman, Yeşim, Tan, Ersin, Koç, Filiz, Deymeer, Feza, Oflazer, Piraye, Hanağası, Haşmet, Gürvit, Hakan, Bilgiç, Başar, Durmuş, Hacer, Ertaş, Mustafa, Kotan, Dilcan, Akalın, Mehmet Ali, Güllüoğlu, Halil, Zarifoğlu, Mehmet, Aysal, Fikret, Döşoğlu, Nilgün, Bilguvar, Kaya, Günel, Murat, Keskin, Özlem, Akgün, Tahsin, Özçelik, Hilmi, Landers, John E, Brown, Robert H, Başak, A. Nazlı
Published in Neurobiology of aging

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

by WU, Chi-Hong, FALLINI, Claudia, KOST, Jason E, GONZALEZ-PEREZ, Paloma, FOX, Andrew D, ADAMS, Jenni, TARONI, Franco, TILOCA, Cinzia, LYN LECLERC, Ashley, CHAFE, Shawn C, MANGROO, Dev, MOORE, Melissa J, TICOZZI, Nicola, ZITZEWITZ, Jill A, XU, Zuo-Shang, DEN BERG, Leonard H. Van, GLASS, Jonathan D, SICILIANO, Gabriele, CIRULLI, Elizabeth T, GOLDSTEIN, David B, SALACHAS, Francois, MEININGER, Vincent, ROSSOLL, Wilfried, KEAGLE, Pamela J, RATTI, Antonia, GELLERA, Cinzia, BOSCO, Daryl A, BASSELL, Gary J, SILANI, Vincenzo, DRORY, Vivian E, BROWN, Robert H, LANDERS, John E, SAPP, Peter C, PIOTROWSKA, Katarzyna, LOWE, Patrick, KOPPERS, Max, MCKENNA-YASEK, Diane, BARON, Desiree M
Published in Nature (London)

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

by Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J. M. B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., Goldstein, David B.
Published in Science (American Association for the Advancement of Science)

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

by Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon, Kenna, Kevin P., Scotter, Emma L., Kost, Jason, Keagle, Pamela, Miller, Jack W., Calini, Daniela, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Tiloca, Cinzia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Colombrita, Claudia, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor LMA, Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Simpson, Michael, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Diekstra, Frank P., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Morrison, Karen E., Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Dion, Patrick A., Leblond, Claire S., Rouleau, Guy A., Hardiman, Orla, 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.
Published in Neuron (Cambridge, Mass.)

Mutational analysis of TARDBP in neurodegenerative diseases

by Ticozzi, Nicola, LeClerc, Ashley Lyn, van Blitterswijk, Marka, Keagle, Pamela, McKenna-Yasek, Diane M, Sapp, Peter C, Silani, Vincenzo, Wills, Anne-Marie, Brown, Robert H, Landers, John E
Published in Neurobiology of aging

Characterization of FUS Mutations in Amyotrophic Lateral Sclerosis Using RNA-Seq. e60788

by Blitterswijk, Marka van, Wang, Eric T, Friedman, Brad A, Keagle, Pamela J, Lowe, Patrick, Leclerc, Ashley Lyn, Berg, H vanden, Housman, David E, Veldink, Jan H, Landers, John E
Published in PloS one