Utility of Survival Motor Neuron ELISA for Spinal Muscular Atrophy Clinical and Preclinical Analyses

por Kobayashi, Dione T., Olson, Rory J., Sly, Laurel, Swanson, Chad J., Chung, Brett, Naryshkin, Nikolai, Narasimhan, Jana, Bhattacharyya, Anuradha, Mullenix, Michael, Chen, Karen S.
Publicado 2011

Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs

por Poirier, Agnès, Weetall, Marla, Heinig, Katja, Bucheli, Franz, Schoenlein, Kerstin, Alsenz, Jochem, Bassett, Simon, Ullah, Mohammed, Senn, Claudia, Ratni, Hasane, Naryshkin, Nikolai, Paushkin, Sergey, Mueller, Lutz
Publicado 2018

Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy

por Zhao, Xin, Feng, Zhihua, Ling, Karen K. Y., Mollin, Anna, Sheedy, Josephine, Yeh, Shirley, Petruska, Janet, Narasimhan, Jana, Dakka, Amal, Welch, Ellen M., Karp, Gary, Chen, Karen S., Metzger, Friedrich, Ratni, Hasane, Lotti, Francesco, Tisdale, Sarah, Naryshkin, Nikolai A., Pellizzoni, Livio, Paushkin, Sergey, Ko, Chien-Ping, Weetall, Marla
Publicado 2016

Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia

por Morini, Elisabetta, Chekuri, Anil, Logan, Emily M., Bolduc, Jessica M., Kirchner, Emily G., Salani, Monica, Krauson, Aram J., Narasimhan, Jana, Gabbeta, Vijayalakshmi, Grover, Shivani, Dakka, Amal, Mollin, Anna, Jung, Stephen P., Zhao, Xin, Zhang, Nanjing, Zhang, Sophie, Arnold, Michael, Woll, Matthew G., Naryshkin, Nikolai A., Weetall, Marla, Slaugenhaupt, Susan A.
Publicado 2023

The DHODH inhibitor PTC299 arrests SARS-CoV-2 replication and suppresses induction of inflammatory cytokines

por Luban, Jeremy, Sattler, Rachel A., Mühlberger, Elke, Graci, Jason D., Cao, Liangxian, Weetall, Marla, Trotta, Christopher, Colacino, Joseph M., Bavari, Sina, Strambio-De-Castillia, Caterina, Suder, Ellen L., Wang, Yetao, Soloveva, Veronica, Cintron-Lue, Katherine, Naryshkin, Nikolai A., Pykett, Mark, Welch, Ellen M., O’Keefe, Kylie, Kong, Ronald, Goodwin, Elizabeth, Jacobson, Allan, Paessler, Slobodan, Peltz, Stuart W.
Publicado 2021

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders

por Gao, Dadi, Morini, Elisabetta, Salani, Monica, Krauson, Aram J., Chekuri, Anil, Sharma, Neeraj, Ragavendran, Ashok, Erdin, Serkan, Logan, Emily M., Li, Wencheng, Dakka, Amal, Narasimhan, Jana, Zhao, Xin, Naryshkin, Nikolai, Trotta, Christopher R., Effenberger, Kerstin A., Woll, Matthew G., Gabbeta, Vijayalakshmi, Karp, Gary, Yu, Yong, Johnson, Graham, Paquette, William D., Cutting, Garry R., Talkowski, Michael E., Slaugenhaupt, Susan A.
Publicado 2021

Small molecule splicing modifiers with systemic HTT-lowering activity

por Bhattacharyya, Anuradha, Trotta, Christopher R., Narasimhan, Jana, Wiedinger, Kari J., Li, Wencheng, Effenberger, Kerstin A., Woll, Matthew G., Jani, Minakshi B., Risher, Nicole, Yeh, Shirley, Cheng, Yaofeng, Sydorenko, Nadiya, Moon, Young-Choon, Karp, Gary M., Weetall, Marla, Dakka, Amal, Gabbeta, Vijayalakshmi, Naryshkin, Nikolai A., Graci, Jason D., Tripodi, Thomas, Southwell, Amber, Hayden, Michael, Colacino, Joseph M., Peltz, Stuart W.
Publicado 2021