Article

Isoform-Dependent Loss- and Gain-of-Function of the Gαs K53N Variant in Human Disease

2025-09-06

Abstract excerpt

The K53N mutation in Gαs has been identified in patients with Albright’s Hereditary Osteodystrophy (AHO), pseudohypoparathyroidism type 1A (PHP1a), and dilated cardiomyopathy; however, its molecular mechanism remains unclear. Here, we characterize the molecular, cellular, and physiological consequences of the K53N mutation in both long and short isoform of Gαs. Biochemical analyses reveal that K53N disrupts nucleo...

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Literature Corpus work: 627996c3-f5c3-53b2-a88e-96c9e85f0cb4
DOI: 10.1101/2025.09.02.673555

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