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
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
Liao P et al.
Frontiers in Pediatrics, 2021
Pharmacological Chaperones as Potential Therapeutic Strategies for Misfolded Mutant Vasopressin Receptors.
Mouillac B et al.
Handbook of Experimental Pharmacology, 2018
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Vasopressin receptors and pharmacological chaperones: from functional rescue to promising therapeutic strategies.
Mouillac B et al.
Pharmacological Research, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
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
A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone.
Staffler A et al.
Ndt Plus, 2009
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E et al.
Journal of Cellular Physiology, 2008
Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones.
Cheong HI et al.
Nephrology (carlton, Vic.), 2007
Pharmacological chaperones in nephrogenic diabetes insipidus: possibilities for clinical application.
Robben JH et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2007
Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus.
Bernier V et al.
Journal of the American Society of Nephrology : Jasn, 2006
Pharmacological chaperones: a new twist on receptor folding.
Morello JP et al.
Trends in Pharmacological Sciences, 2000
Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants.
Morello JP et al.
The Journal of Clinical Investigation, 2000
AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
Wildin RS et al.
Kidney International, 1998
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.
Ala Y et al.
Journal of the American Society of Nephrology : Jasn, 1998
The molecular basis of nephrogenic diabetes insipidus.
Oksche A et al.
Journal of Molecular Medicine (berlin, Germany), 1998
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
Three novel AVPR2 mutations in three Japanese families with X-linked nephrogenic diabetes insipidus.
Tajima T et al.
Pediatric Research, 1996
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.
Wildin RS et al.
American Journal of Human Genetics, 1994