Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus.

@article{Postina2000MisfoldedVV,
  title={Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus.},
  author={Rolf Postina and E Ufer and Ragen Pfeiffer and Nine V. A. M. Knoers and Falk Fahrenholz},
  journal={Molecular and cellular endocrinology},
  year={2000},
  volume={164 1-2},
  pages={31-9}
}
Vasopressin V2 receptor mutants from three different patients with congenital nephrogenic diabetes insipidus phenotypes were investigated after expression in COS cells. The amino acid exchanges within the human V2 receptor are located in the second extracellular loop (T204N, Y205C and V206D). Confocal microscopy showed that all receptor mutants were strongly expressed but mainly located within the cell. Residual binding capacity for the antidiuretic hormone arginine vasopressin (AVP) could only… CONTINUE READING

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