Associated Papers
A small molecule stabilizer rescues the surface expression of nearly all missense variants in a GPCR.
Mighell TL et al.
Nature Structural & Molecular Biology, 2025
40983772 (PubMed )
Supplement: 41594_2025_1659_MOESM5_ESM.xlsx › Fig._2j
Valine-279 Deletion-Mutation on Arginine Vasopressin Receptor 2 Causes Obstruction in G-Protein Binding Site: A Clinical Nephrogenic Diabetes Insipidus Case and Its Sub-Molecular Pathogenic Analysis.
Chen MC et al.
Biomedicines, 2021
[Vasopressin V2 receptor-related pathologies: congenital nephrogenic diabetes insipidus and nephrogenic syndrome of inappropiate antidiuresis].
Morin D
Nephrologie & Therapeutique, 2014
Identification and characterization of an activating F229V substitution in the V2 vasopressin receptor in an infant with NSIAD.
Carpentier E et al.
Journal of the American Society of Nephrology : Jasn, 2012
Functional characterization of vasopressin type 2 receptor substitutions (R137H/C/L) leading to nephrogenic diabetes insipidus and nephrogenic syndrome of inappropriate antidiuresis: implications for treatments.
Rochdi MD et al.
Molecular Pharmacology, 2010
Potential of nonpeptide (ant)agonists to rescue vasopressin V2 receptor mutants for the treatment of X-linked nephrogenic diabetes insipidus.
Los EL et al.
Journal of Neuroendocrinology, 2010
Mutation of the histidin residue of the DRH motif in vasopressin V2 receptor expression and function.
Mir Mohammad Sadeghi H et al.
Daru : Journal of Faculty of Pharmacy, Tehran University of Medical Sciences, 2010
Agonist-independent interactions between beta-arrestins and mutant vasopressin type II receptors associated with nephrogenic syndrome of inappropriate antidiuresis.
Kocan M et al.
Molecular Endocrinology (baltimore, Md.), 2009
Intermittent severe, symptomatic hyponatraemia due to the nephrogenic syndrome of inappropriate antidiuresis.
Soule S et al.
Annals of Clinical Biochemistry, 2008
Nephrogenic syndrome of inappropriate antidiuresis in adults: high phenotypic variability in men and women from a large pedigree.
Decaux G et al.
Journal of the American Society of Nephrology : Jasn, 2007
Pharmacochaperones post-translationally enhance cell surface expression by increasing conformational stability of wild-type and mutant vasopressin V2 receptors.
Wüller S et al.
The Journal of Biological Chemistry, 2004
Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants.
Morello JP et al.
The Journal of Clinical Investigation, 2000
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