ArticleScientific reports2020
Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 45 citations in OpenAlex.
- A small molecule stabilizer rescues the surface expression of nearly all missense variants in a GPCR.Nature structural & molecular biology · 2025Article
- The natural history of untreated X-linked nephrogenic diabetes insipidus with mutation in the vasopressin V2 receptor gene.CEN case reports · 2025Article
- Nephrogenic Diabetes Insipidus Affecting Three Males in Two Generations-Case Report and Review of the Literature.Children (Basel, Switzerland) · 2025Article
- Innovations in Targeting the V2 Receptor.Journal of the American Society of Nephrology : JASN · 2025Article
- International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance).Nature reviews. Nephrology · 2025Review
- Tolvaptan-Loaded Tomato-Derived Nanovesicles: Characterization and Evaluation of Cytotoxicity, Wound Healing Potential and the Effects on Cyst Formation in Renal Cell Lines.International journal of nanomedicine · 2025Article
- Analysis of Bacteriophage Behavior of a Human RNA Virus, SARS-CoV-2, through the Integrated Approach of Immunofluorescence Microscopy, Proteomics and D-Amino Acid Quantification.International journal of molecular sciences · 2023Article
- Clinical, Genetic and Functional Characterization of a NovelJournal of personalized medicine · 2022Article
- Nephrogenic diabetes insipidus in children (Review).Experimental and therapeutic medicine · 2021Review
- Functional characterization of a loss-of-function mutant I324M of arginine vasopressin receptor 2 in X-linked nephrogenic diabetes insipidus.Scientific reports · 2021Article
- Cryo-electron microscopy structure of the antidiuretic hormone arginine-vasopressin V2 receptor signaling complex.Science advances · 2021Article
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14 authors at 3 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Nephrogenic diabetes insipidus (NDI) is a rare tubulopathy characterized by urinary concentration defect due to renal resistance to vasopressin. Loss-of-function mutations of vasopressin V2 receptor (V2R) gene (AVPR2) is the most common cause of the disease. We have identified five novel mutations L86P, R113Q, C192S, M272R, and W323_I324insR from NDI-affected patients. Functional characterization of these mutants revealed that R113Q and C192S were normally localized at the basolateral membrane of polarized Madin-Darby Canine Kidney (MDCK) cells and presented proper glycosylation maturation. On the other side, L86P, M272R, and W323_I324insR mutants were retained in endoplasmic reticulum and exhibited immature glycosylation and considerably reduced stability. All five mutants were resistant to administration of vasopressin analogues as evaluated by defective response in cAMP release. In order to rescue the function of the mutated V2R, we tested VX-809, sildenafil citrate, ibuprofen and tolvaptan in MDCK cells. Among these, tolvaptan was effective in rescuing the function of M272R mutation, by both allowing proper glycosylation maturation, membrane sorting and response to dDAVP. These results show an important proof of concept for the use of tolvaptan in patients affected by M272R mutation of V2R causing NDI.
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