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
Pharmacoperone drugs: targeting misfolded proteins causing lysosomal storage-, ion channels-, and G protein-coupled receptors-associated conformational disorders.
Hou ZS et al.
Expert Review of Clinical Pharmacology, 2018
Pharmacological Chaperones as Potential Therapeutic Strategies for Misfolded Mutant Vasopressin Receptors.
Mouillac B et al.
Handbook of Experimental Pharmacology, 2018
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Ibuprofen rescues mutant cystic fibrosis transmembrane conductance regulator trafficking.
Carlile GW et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2015
Vasopressin receptors and pharmacological chaperones: from functional rescue to promising therapeutic strategies.
Mouillac B et al.
Pharmacological Research, 2014
Differential functional rescue of Lys(513) and Lys(516) processing mutants of MRP1 (ABCC1) by chemical chaperones reveals different domain-domain interactions of the transporter.
Iram SH et al.
Biochimica Et Biophysica Acta, 2014
Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines.
Sampson HM et al.
Orphanet Journal of Rare Diseases, 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
Rescue of vasopressin V2 receptor mutants by chemical chaperones: specificity and mechanism.
Robben JH et al.
Molecular Biology of the Cell, 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
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 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
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.
Wildin RS et al.
American Journal of Human Genetics, 1994
Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus.
Knoers NV et al.
Kidney International, 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