Discovery of Small Molecule Splicing Modulators of Survival Motor Neuron‑2 (SMN2) for the Treatment of Spinal Muscular Atrophy (SMA)

• Published in: Journal of medicinal chemistry Vol. 61; no. 24; pp. 11021 - 11036
• Main Authors: Cheung, Atwood K, Hurley, Brian, Kerrigan, Ryan, Shu, Lei, Chin, Donovan N, Shen, Yiping, O’Brien, Gary, Sung, Moo Je, Hou, Ying, Axford, Jake, Cody, Emma, Sun, Robert, Fazal, Aleem, Tomlinson, Ronald C, Jain, Monish, Deng, Lin, Hoffmaster, Keith, Song, Cheng, Van Hoosear, Mailin, Shin, Youngah, Servais, Rebecca, Towler, Christopher, Hild, Marc, Curtis, Daniel, Dietrich, William F, Hamann, Lawrence G, Briner, Karin, Chen, Karen S, Kobayashi, Dione, Sivasankaran, Rajeev, Dales, Natalie A
• Format: Journal Article
• Language: English
• Published: WASHINGTON American Chemical Society 27.12.2018; Amer Chemical Soc
• Subjects: Chemistry, Medicinal; Life Sciences & Biomedicine; Pharmacology & Pharmacy; Science & Technology; MODIFIERS; IDENTIFICATION; SINGLE NUCLEOTIDE

Spinal muscular atrophy (SMA), a rare neuromuscular disorder, is the leading genetic cause of death in infants and toddlers. SMA is caused by the deletion or a loss of function mutation of the survival motor neuron 1 (SMN1) gene. In humans, a second closely related gene SMN2 exists; however it codes...