Pharmacology & ToxicologybioRxivPreprint
Isoform-Dependent Loss- and Gain-of-Function of the Gαs K53N Variant in Human Disease
Haoran Geng, Justin Martel, Brian J. Holleran…·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.
DOI 10.1101/2025.09.02.673555