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

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