In many mendelian diseases, some mutations result in the synthesis of misfolded proteins
that cannot reach a transport-competent conformation. In X-linked nephrogenic diabetes
insipidus, most of the mutant vasopressin 2 (V2) receptors are trapped in the endoplasmic
reticulum and degraded. They are unable to reach the plasma membrane and promote
water reabsorption through the principal cells of the collecting ducts. Herein is reported two
types of experiments: In vivo studies to assess clinically a short-term treatment with a …