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
Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus.
Robben JH et al.
American Journal of Physiology. Renal Physiology, 2007
Pharmacological chaperones in nephrogenic diabetes insipidus: possibilities for clinical application.
Robben JH et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2007
Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.
Robben JH et al.
American Journal of Physiology. Renal Physiology, 2006
Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model.
Robben JH et al.
American Journal of Physiology. Renal Physiology, 2005
[From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus].
Knoers NV et al.
Nederlands Tijdschrift Voor Geneeskunde, 2000
Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus.
van Lieburg AF et al.
Journal of the American Society of Nephrology : Jasn, 1999
AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
Wildin RS et al.
Kidney International, 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 and cellular defects in nephrogenic diabetes insipidus.
Knoers NV et al.
Current Opinion in Nephrology and Hypertension, 1996
Molecular analysis of X-linked nephrogenic diabetes insipidus.
Fujiwara TM et al.
European Journal of Endocrinology, 1996
Urinary content of aquaporin 1 and 2 in nephrogenic diabetes insipidus.
Deen PM et al.
Journal of the American Society of Nephrology : Jasn, 1996
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.
Wildin RS et al.
American Journal of Human Genetics, 1994
Effect of mutations in putative hormone binding sites on V2 vasopressin receptor function.
Sebti Y et al.
Research in Pharmaceutical Sciences, 0
Mutations and diseases of G protein coupled receptors.
Birnbaumer M
Journal of Receptor and Signal Transduction Research, 0