Searchable abstracts of presentations at key conferences in endocrinology

ea0056gp143 | Neuroendocrinology | ECE2018

Characterization and functional rescue of a nephrogenic diabetes insipidus causing S127F substitution in V2 vasopressin receptor

Erdelyi Laszlo , Szalai Laura , Sziraki Andras , Balla Andras , Hunyady Laszlo

The concentrating function of the kidney is important to maintain the water homeostasis of the body. It is regulated by the arginine-vasopressin system through the type 2 vasopressin receptor (V2R). Loss-of-function mutations of V2R in kidney can lead to nephrogenic diabetes insipidus (NDI) which results several symptoms such as polyuria, polydipsia, and hyposthenuria. In this study, we functionally characterized and investigated the potential rescue of a missense mutation (S1...