Article
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor.
Molecular endocrinology (Baltimore, Md.) - 1 Dec 2012
Grant Michael P, Stepanchick Ann, Breitwieser Gerda E
Abstract excerpt
Calcium-sensing receptors (CaSRs) regulate systemic Ca(2+) homeostasis. Loss-of-function mutations cause familial benign hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism (NSHPT). FHH/NSHPT mutations can reduce trafficking of CaSRs to the plasma membrane. CaSR signaling is potentiated by agonist-driven anterograde CaSR trafficking, leading to a new steady state level of plasma membrane...
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