Toxic PR poly-dipeptides encoded by the C9orf72 repeat expansion target Kapβ2 and dysregulate phase separation of low-complexity domains
Hitoki Nanaura, Honoka Kawamukai, Ayano Fujiwara, Takeru Uehara, Mari Nakanishi, Tomo Shiota, Masaki Hibino, Yuichiro Aiba, Pattama Wiriyasermkul, Sotaro Kikuchi, Riko Nagata, Masaya Matsubayashi, Shushi Nagamori, Osami Shoji, Koichiro Ishimori, , Eiichiro Mori
This study shows that PR poly-dipeptides from C9orf72 repeat expansion bind Kapβ2 and disrupt FUS droplet melting, contributing to nucleocytoplasmic transport deficits in ALS.
bioRxiv · Oct 21, 2019 · PreprintMolecular Biology