G4C2 repeat RNA mediates the disassembly of the nuclear pore complex in C9orf72 ALS/FTD
Alyssa N. Coyne, Benjamin L. Zaepfel, Lindsey R. Hayes, Boris Fitchman, Yuval Salzberg, Kelly Bowen, Hannah Trost, Frank Rigo, Amnon Harel, Clive Niels Svendsen, Dhruv Sareen, Jeffrey D. Rothstein
The paper identifies POM121 as a critical nucleoporin affected by C9orf72 repeat RNA, leading to nuclear pore complex disassembly and neuronal toxicity in ALS/FTD.
bioRxiv · Feb 13, 2020 · PreprintNeuroscience