AN EPILEPSY-CAUSING MUTATION LEADS TO CO-TRANSLATIONAL MISFOLDING
J. Urrutia, A. Aguado, C. Gomis-Perez, A. Muguruza-Montero, O. R. Ballesteros, J. Zhang, E. Nunez, C. Malo, H. J. Chung, A. Leonardo, A. Bergara, A. Villarroel
The paper shows that the W344R mutation in Kv7.2 channels causes co-translational misfolding, impairing CaM binding and leading to non-functional ion channels.
bioRxiv · Nov 25, 2020Biophysics