Searchable abstracts of presentations at key conferences in endocrinology

ea0014s3.2 | Signaling and regulation of G-protein-coupled hormone receptors | ECE2007

Pharmacological chaperones rescue the membrane expression and function of a mutant of the vasopressin V1b/V3 receptor

Clauser Eric , Robert Jessica , Auzan Colette , Ventura Marie Ange

The majority of loss-of function mutations of G protein coupled receptors, leading to diseases, such as diabetes insipidus (V2 vasopressin receptor) or retinitis pigmentosa (rhodopsin) are consecutive to retention of the receptor in the endoplasmic reticulum (ER). Cell surface expression and biological function can be restored by membrane-permeable ligands called pharmacological chaperones. The V1b/V3R, one of the 3 subtypes of vasopressin receptors, is involved in the regulat...