Reduced affinity of calcium sensing-receptor heterodimers and reduced mutant homodimer trafficking combine to impair function in a mouse model of Familial Hypocalciuric Hypercalcemia Type 1
X. Wang, J. Lundblad, S. M. Smith
This study investigates how CaSR mutations cause different disease outcomes by showing that heterodimers reduce WT affinity and rescue mutant trafficking, while homodimers fail to function.
bioRxiv · Apr 11, 2022Cell Biology