Novel autosomal dominant TNNT1 mutation causing nemaline myopathy

por Konersman, Chamindra G., Freyermuth, Fernande, Winder, Thomas L., Lawlor, Michael W., Lagier‐Tourenne, Clotilde, Patel, Shailendra B.
Publicado 2017

iPSC motor neurons, but not other derived cell types, capture gene expression changes in postmortem sporadic ALS motor neurons

por Held, Aaron, Adler, Michelle, Marques, Christine, Reyes, Charles Jourdan, Kavuturu, Amey S., Quadros, Ana R.A.A., Ndayambaje, I. Sandra, Lara, Erika, Ward, Michael, Lagier-Tourenne, Clotilde, Wainger, Brian J.
Publicado 2023

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts

por Tabet, Ricardos, Schaeffer, Laure, Freyermuth, Fernande, Jambeau, Melanie, Workman, Michael, Lee, Chao-Zong, Lin, Chun-Chia, Jiang, Jie, Jansen-West, Karen, Abou-Hamdan, Hussein, Désaubry, Laurent, Gendron, Tania, Petrucelli, Leonard, Martin, Franck, Lagier-Tourenne, Clotilde
Publicado 2018

ALS-causative mutations in FUS/TLS confer gain- and loss-of-function by altered association with SMN and U1-snRNP

por Sun, Shuying, Ling, Shuo-Chien, Qiu, Jinsong, Albuquerque, Claudio P., Zhou, Yu, Tokunaga, Seiya, Li, Hairi, Qiu, Haiyan, Bui, Anh, Yeo, Gene W., Huang, Eric J., Eggan, Kevin, Zhou, Huilin, Fu, Xiang-Dong, Lagier-Tourenne, Clotilde, Cleveland, Don W.
Publicado 2015

Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis

por Scekic-Zahirovic, Jelena, Oussini, Hajer El, Mersmann, Sina, Drenner, Kevin, Wagner, Marina, Sun, Ying, Allmeroth, Kira, Dieterlé, Stéphane, Sinniger, Jérôme, Dirrig-Grosch, Sylvie, René, Frédérique, Dormann, Dorothee, Haass, Christian, Ludolph, Albert C., Lagier-Tourenne, Clotilde, Storkebaum, Erik, Dupuis, Luc
Publicado 2017

Wild-type FUS corrects ALS-like disease induced by cytoplasmic mutant FUS through autoregulation

por Sanjuan-Ruiz, Inmaculada, Govea-Perez, Noé, McAlonis-Downes, Melissa, Dieterle, Stéphane, Megat, Salim, Dirrig-Grosch, Sylvie, Picchiarelli, Gina, Piol, Diana, Zhu, Qiang, Myers, Brian, Lee, Chao-Zong, Cleveland, Don W, Lagier-Tourenne, Clotilde, Cruz, Sandrine Da, Dupuis, Luc
Publicado 2021

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

por Polymenidou, Magdalini, Lagier-Tourenne, Clotilde, Hutt, Kasey R., Huelga, Stephanie C., Moran, Jacqueline, Liang, Tiffany Y., Ling, Shuo-Chien, Sun, Eveline, Wancewicz, Edward, Mazur, Curt, Kordasiewicz, Holly, Sedaghat, Yalda, Donohue, John Paul, Shiue, Lily, Bennett, C. Frank, Yeo, Gene W., Cleveland, Don W.
Publicado 2011

Loss of TDP-43 in male germ cells causes meiotic failure and impairs fertility in mice

por Campbell, Kaitlyn M., Xu, Yiding, Patel, Chintan, Rayl, Jeremy M., Zomer, Helena D., Osuru, Hari Prasad, Pratt, Michael, Pramoonjago, Patcharin, Timken, Madeline, Miller, Lyndzi M., Ralph, Abigail, Storey, Kathryn M., Peng, Yiheng, Drnevich, Jenny, Lagier-Tourenne, Clotilde, Wong, Philip C., Qiao, Huanyu, Reddi, Prabhakara P.
Publicado 2021

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

por Melamed, Ze’ev, Lopez-Erauskin, Jone, Baughn, Michael W., Zhang, Ouyang, Drenner, Kevin, Sun, Ying, Freyermuth, Fernande, McMahon, Moira A., Beccari, Melinda S, Artates, Jon, Ohkubo, Takuya, Rodriguez, Maria, Lin, Nianwei, Wu, Dongmei, Bennett, C. Frank, Rigo, Frank, Da Cruz, Sandrine, Ravits, John, Lagier-Tourenne, Clotilde, Cleveland, Don W.
Publicado 2019

Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss

por Scekic‐Zahirovic, Jelena, Sendscheid, Oliver, El Oussini, Hajer, Jambeau, Mélanie, Sun, Ying, Mersmann, Sina, Wagner, Marina, Dieterlé, Stéphane, Sinniger, Jérome, Dirrig‐Grosch, Sylvie, Drenner, Kevin, Birling, Marie‐Christine, Qiu, Jinsong, Zhou, Yu, Li, Hairi, Fu, Xiang‐Dong, Rouaux, Caroline, Shelkovnikova, Tatyana, Witting, Anke, Ludolph, Albert C, Kiefer, Friedemann, Storkebaum, Erik, Lagier‐Tourenne, Clotilde, Dupuis, Luc
Publicado 2016

FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis

por Picchiarelli, Gina, Demestre, Maria, Zuko, Amila, Been, Marije, Higelin, Julia, Dieterlé, Stéphane, Goy, Marc-Antoine, Mallik, Moushami, Sellier, Chantal, Scekic-Zahirovic, Jelena, Zhang, Li, Rosenbohm, Angela, Sijlmans, Céline, Aly, Amr, Mersmann, Sina, Sanjuan-Ruiz, Inmaculada, Hübers, Annemarie, Messaddeq, Nadia, Wagner, Marina, van Bakel, Nick, Boutillier, Anne-Laurence, Ludolph, Albert, Lagier-Tourenne, Clotilde, Boeckers, Tobias M., Dupuis, Luc, Storkebaum, Erik
Publicado 2019

Cytoplasmic FUS triggers early behavioral alterations linked to cortical neuronal hyperactivity and inhibitory synaptic defects

por Scekic-Zahirovic, Jelena, Sanjuan-Ruiz, Inmaculada, Kan, Vanessa, Megat, Salim, De Rossi, Pierre, Dieterlé, Stéphane, Cassel, Raphaelle, Jamet, Marguerite, Kessler, Pascal, Wiesner, Diana, Tzeplaeff, Laura, Demais, Valérie, Sahadevan, Sonu, Hembach, Katharina M., Muller, Hans-Peter, Picchiarelli, Gina, Mishra, Nibha, Antonucci, Stefano, Dirrig-Grosch, Sylvie, Kassubek, Jan, Rasche, Volker, Ludolph, Albert, Boutillier, Anne-Laurence, Roselli, Francesco, Polymenidou, Magdalini, Lagier-Tourenne, Clotilde, Liebscher, Sabine, Dupuis, Luc
Publicado 2021

ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

por López-Erauskin, Jone, Tadokoro, Takahiro, Baughn, Michael W., Myers, Brian, McAlonis-Downes, Melissa, Chillon-Marinas, Carlos, Asiaban, Joshua N., Artates, Jonathan, Bui, Anh T., Vetto, Anne P., Lee, Sandra K., Le, Ai Vy, Sun, Ying, Jambeau, Mélanie, Boubaker, Jihane, Swing, Deborah, Qiu, Jinsong, Hicks, Geoffrey G., Ouyang, Zhengyu, Fu, Xiang-Dong, Tessarollo, Lino, Ling, Shuo-Chien, Parone, Philippe A., Shaw, Christopher E., Marsala, Martin, Lagier-Tourenne, Clotilde, Cleveland, Don W., Da Cruz, Sandrine
Publicado 2018

Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis

por Ling, Shuo-Chien, Dastidar, Somasish Ghosh, Tokunaga, Seiya, Ho, Wan Yun, Lim, Kenneth, Ilieva, Hristelina, Parone, Philippe A, Tyan, Sheue-Houy, Tse, Tsemay M, Chang, Jer-Cherng, Platoshyn, Oleksandr, Bui, Ngoc B, Bui, Anh, Vetto, Anne, Sun, Shuying, McAlonis-Downes, Melissa, Han, Joo Seok, Swing, Debbie, Kapeli, Katannya, Yeo, Gene W, Tessarollo, Lino, Marsala, Martin, Shaw, Christopher E, Tucker-Kellogg, Greg, La Spada, Albert R, Lagier-Tourenne, Clotilde, Da Cruz, Sandrine, Cleveland, Don W
Publicado 2019

ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

por López-Erauskin, Jone, Tadokoro, Takahiro, Baughn, Michael W., Myers, Brian, McAlonis-Downes, Melissa, Chillon-Marinas, Carlos, Asiaban, Joshua N., Artates, Jonathan, Bui, Anh T., Vetto, Anne P., Lee, Sandra K., Le, Ai Vy, Sun, Ying, Jambeau, Mélanie, Boubaker, Jihane, Swing, Deborah, Qiu, Jinsong, Hicks, Geoffrey G., Ouyang, Zhengyu, Fu, Xiang-Dong, Tessarollo, Lino, Ling, Shuo-Chien, Parone, Philippe A., Shaw, Christopher E., Marsala, Martin, Lagier-Tourenne, Clotilde, Cleveland, Don W., Da Cruz, Sandrine
Publicado 2020

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

por Gendron, Tania F., van Blitterswijk, Marka, Bieniek, Kevin F., Daughrity, Lillian M., Jiang, Jie, Rush, Beth K., Pedraza, Otto, Lucas, John A., Murray, Melissa E., Desaro, Pamela, Robertson, Amelia, Overstreet, Karen, Thomas, Colleen S., Crook, Julia E., Castanedes-Casey, Monica, Rousseau, Linda, Josephs, Keith A., Parisi, Joseph E., Knopman, David S., Petersen, Ronald C., Boeve, Bradley F., Graff-Radford, Neill R., Rademakers, Rosa, Lagier-Tourenne, Clotilde, Edbauer, Dieter, Cleveland, Don W., Dickson, Dennis W., Petrucelli, Leonard, Boylan, Kevin B.
Publicado 2015

Comprehensive evaluation of human-derived anti-poly-GA antibodies in cellular and animal models of C9orf72 disease

por Jambeau, Melanie, Meyer, Kevin D., Hruska-Plochan, Marian, Tabet, Ricardos, Lee, Chao-Zong, Ray-Soni, Ananya, Aguilar, Corey, Savage, Kitty, Mishra, Nibha, Cavegn, Nicole, Borter, Petra, Lin, Chun-Chia, Jansen-West, Karen R., Jiang, Jie, Freyermuth, Fernande, Li, Nan, De Rossi, Pierre, Pérez-Berlanga, Manuela, Jiang, Xin, Daughrity, Lilian M., Pereira, João, Narayanan, Sarav, Gu, Yuanzheng, Dhokai, Shekhar, Dalkilic-Liddle, Isin, Maniecka, Zuzanna, Weber, Julien, Workman, Michael, McAlonis-Downes, Melissa, Berezovski, Eugene, Zhang, Yong-Jie, Berry, James, Wainger, Brian J., Kankel, Mark W., Rushe, Mia, Hock, Christoph, Nitsch, Roger M., Cleveland, Don W., Petrucelli, Leonard, Gendron, Tania F., Montrasio, Fabio, Grimm, Jan, Polymenidou, Magdalini, Lagier-Tourenne, Clotilde
Publicado 2022