Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndrome.
Dania Zuniga, Andreas Zoumpoulakis, Rafael F. Veloso, Laurie Peverini, Sophie Shi, Alexandre Pozza, Valérie Kugler, Françoise Bonneté, Tahar Bouceba, Renaud Wagner, Pierre‐Jean Corringer, Carlos A. H. Fernandes, Catherine Vénien‐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.
The FASEB Journal · Nov 9, 2024Peer-reviewedBiophysics