Enigmatic missense mutations can cause disease via creation of de novo nuclear export signals
M. R. McConville, T. Thomas, R. L. Beckner, C. Valadez, Y. M. Chook, S. S. Chung, G. P. Liszczak
The paper identifies missense mutations that create nuclear export signals, leading to disease, and shows therapeutic strategies can restore function.
bioRxiv · Apr 24, 2024 · PreprintBiochemistry