PTC258: A Brain-Penetrant Splicing Modulator for ELP1


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
Drug Hunter Team

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 [...]



Other molecules you may be interested in