Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndrome.
D. Zuniga, A. Zoumpoulakis, R. F. Veloso, L. Peverini, S. Shi, A. Pozza, V. Kugler, F. Bonnete, T. Bouceba, R. Wagner, P.-J. Corringer, C. A. Fernandes, C. Venien-Bryan
This study investigates two Kir2.1 mutants linked to Andersen-Tawil syndrome, showing they impair channel function through distinct mechanisms, with C154Y causing dominant-negative effects.
bioRxiv · Feb 9, 2024Biophysics