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
Construction of arginine vasopressin receptor 2-deficient rats by the rGONAD method.
Kamada A et al.
Clinical and Experimental Nephrology, 2025
Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases.
Yu J et al.
Acta Dermato-venereologica, 2022
Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.
Ulloa-Aguirre A et al.
Frontiers in Endocrinology, 2022
Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.
Ulloa-Aguirre A et al.
International Journal of Molecular Sciences, 2021
Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.
Milano S et al.
International Journal of Molecular Sciences, 2017
Demonstration of the functional impact of vasopressin signaling in the thick ascending limb by a targeted transgenic rat approach.
Mutig K et al.
American Journal of Physiology. Renal Physiology, 2016
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
[Vasopressin V2 receptor-related pathologies: congenital nephrogenic diabetes insipidus and nephrogenic syndrome of inappropiate antidiuresis].
Morin D
Nephrologie & Therapeutique, 2014
A novel deletion mutation of the arginine vasopressin receptor 2 gene in a Japanese infant with nephrogenic diabetes insipidus.
Daitsu T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2014
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E et al.
Journal of Cellular Physiology, 2008
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 2008
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
[Congenital nephrogenic diabetes insipidus].
Morin D et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2005
Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo.
Sangkuhl K et al.
Human Molecular Genetics, 2004
Variant amino acids in the extracellular loops of murine and human vasopressin V2 receptors account for differences in cell surface expression and ligand affinity.
Oksche A et al.
Molecular Endocrinology (baltimore, Md.), 2002
Generation and phenotype of mice harboring a nonsense mutation in the V2 vasopressin receptor gene.
Yun J et al.
The Journal of Clinical Investigation, 2000
Structural implication for receptor oligomerization from functional reconstitution studies of mutant V2 vasopressin receptors.
Schulz A et al.
The Journal of Biological Chemistry, 2000
Congenital nephrogenic diabetes insipidus.
Bichet DG et al.
Journal of the American Society of Nephrology : Jasn, 1997
Molecular analysis of X-linked nephrogenic diabetes insipidus.
Fujiwara TM et al.
European Journal of Endocrinology, 1996