Isoform-Dependent Loss- and Gain-of-Function of the Gαs K53N Variant in Human Disease
Haoran Geng, Justin Martel, Brian J. Holleran, Andréanne Laniel, Erwan Lanchec, Antoine Désilets, Hugo Giguère, Jean‐Luc Parent, Richard Leduc, Louis-Philippe Picard, Mannix Auger‐Messier, Christine L. Lavoie
This study investigates the K53N mutation in Gs isoforms, revealing isoform-specific loss- and gain-of-function effects contributing to disease mechanisms in endocrine and cardiac tissues.
bioRxiv · Sep 2, 2025 · PreprintPharmacology & Toxicology