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
Functional characterization and cAMP-mediated rescue of a novel truncating AVPR2 mutation causing nephrogenic diabetes insipidus.
Manoel D et al.
American Journal of Physiology. Endocrinology and Metabolism, 2025
A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation.
Li L et al.
International Medical Case Reports Journal, 2025
Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.
Li Q et al.
Journal of Endocrinological Investigation, 2021
A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.
Ding C et al.
American Journal of Medical Genetics. Part A, 2020
Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.
Joshi S et al.
European Journal of Pediatrics, 2018
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
Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.
Milano S et al.
International Journal of Molecular Sciences, 2017
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
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
Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan.
Fujimoto M et al.
Yonago Acta Medica, 2014
Vasopressin receptors and pharmacological chaperones: from functional rescue to promising therapeutic strategies.
Mouillac B et al.
Pharmacological Research, 2014
Genetic analysis of a congenital nephrogenic diabetes insipidus pedigree.
Shen Y et al.
Chinese Medical Journal, 2014
Congenital nephrogenic diabetes insipidus: the current state of affairs.
Wesche D et al.
Pediatric Nephrology (berlin, Germany), 2012
Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus.
Böselt I et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Nephrogenic diabetes insipidus : Old deletion, new effect. A case report of a family from Greece.
Tramma D et al.
Hippokratia, 2011
The splice variant of the V2 vasopressin receptor adopts alternative topologies.
Gonzalez A et al.
Biochemistry, 2011
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
Biased agonist pharmacochaperones of the AVP V2 receptor may treat congenital nephrogenic diabetes insipidus.
Jean-Alphonse F et al.
Journal of the American Society of Nephrology : Jasn, 2009
Nephrogenic diabetes insipidus (NDI): clinical, laboratory and genetic characterization of five Brazilian patients.
Vaisbich MH et al.
Clinics (sao Paulo, Brazil), 2009
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
G protein-coupled receptor trafficking in health and disease: lessons learned to prepare for therapeutic mutant rescue in vivo.
Conn PM et al.
Pharmacological Reviews, 2007
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
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
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
Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.
Boson WL et al.
Genetic Testing, 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
[Congenital nephrogenic diabetes insipidus. A four-month-old girl with delayed psychomotor development].
Hagstrøm S et al.
Ugeskrift for Laeger, 2005
Disease-causing V(2) vasopressin receptors are retained in different compartments of the early secretory pathway.
Hermosilla R et al.
Traffic (copenhagen, Denmark), 2004
Calmodulin interacts with the V2 vasopressin receptor: elimination of binding to the C terminus also eliminates arginine vasopressin-stimulated elevation of intracellular calcium.
Nickols HH et al.
The Journal of Biological Chemistry, 2004
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
Appropriate polarization following pharmacological rescue of V2 vasopressin receptors encoded by X-linked nephrogenic diabetes insipidus alleles involves a conformation of the receptor that also attains mature glycosylation.
Tan CM et al.
The Journal of Biological Chemistry, 2003
Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus.
Schulz A et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
[Nephrogenic diabetes insipidus associated with mutations of vasopressin V2 receptors and aquaporin-2].
Ishikawa SE
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
Chen CH et al.
Journal of Human Genetics, 2002
Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus.
Morello JP et al.
Biochemistry, 2001
[From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus].
Knoers NV et al.
Nederlands Tijdschrift Voor Geneeskunde, 2000
Pharmacological chaperones: a new twist on receptor folding.
Morello JP et al.
Trends in Pharmacological Sciences, 2000
Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.
Arthus MF et al.
Journal of the American Society of Nephrology : Jasn, 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
Structural implication for receptor oligomerization from functional reconstitution studies of mutant V2 vasopressin receptors.
Schulz A et al.
The Journal of Biological Chemistry, 2000
A novel mutation in the vasopressin V2 receptor gene in a woman with congenital nephrogenic diabetes insipidus.
Sato K et al.
Internal Medicine (tokyo, Japan), 1999
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
The molecular basis of nephrogenic diabetes insipidus.
Oksche A et al.
Journal of Molecular Medicine (berlin, Germany), 1998
Folding and cell surface expression of the vasopressin V2 receptor: requirement of the intracellular C-terminus.
Oksche A et al.
Febs Letters, 1998
Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus.
Vargas-Poussou R et al.
Advances in Experimental Medicine and Biology, 1998
Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.
Shoji Y et al.
Human Mutation, 1998