Other Human Diseases Caused By Inactivating Mutations In Gpcrs

In the preceding sections, the success of the pharmacological chaperone strategy to restore activity to three different Class A GPCRs harboring loss-of-Sunction mutations (V2R, rhodopsin, GnRHR) suggests that this approach may also be applicable to other mutated Class A receptors and raises the possibility that it may also be viable for other non-Class A receptors, as recently demonstrated for the Class C CaR (see below). This is certainly an important point given the continuous identification of diseases caused by mutant GPCRs across the various classes (Table 17.1). Below, we present summaries of other currently identified diseases that result from inactivating mutations in GPCRs that belong to Classes A, B, C, and frizzled/smoothened. Because many of these mutations lead to intracellularly retained receptors, a pharmacological chaperone approach may be applicable.

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