An oral, brain-penetrant splicing modulator targeting ELP1. Incorrect splicing of the Elongator complex protein 1 (ELP1) gene causes Familial Dysautonomia (FD), a neurodegenerative disease that results in uncoordinated movement, blindness through retinal degeneration, and risk of unexplained sudden death, among other symptoms. A single T-to-C [...]
3 minute read
Dec. 28, 2022
PTC258: A Brain-Penetrant Splicing Modulator for ELP1
PTC258
oral ELP1 ex20 splicing modulator rescues motor coordination in FD mouse model opt. from natural product from 1K cmpd screen bioRxiv, 04 November 2022 Mass General Research Institute / PTC Therapeutics