{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T04:28:17Z","timestamp":1779164897457,"version":"3.51.4"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,2,6]],"date-time":"2007-02-06T00:00:00Z","timestamp":1170720000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2007,4]]},"abstract":"<jats:title>SUMMARY:<\/jats:title><jats:p><jats:bold>Aim:\u2003<\/jats:bold> X\u2010linked nephrogenic diabetes insipidus is a rare disease caused by mutations in the arginine vasopressin V2 receptor (<jats:italic>AVPR2<\/jats:italic>) gene, which encodes vasopressin V2 receptor (V2R)<jats:italic>.<\/jats:italic> More than a half of reported mutations in <jats:italic>AVPR2<\/jats:italic> are missense mutations, and a large number of missense mutant receptors fail to fold properly and therefore are not routed to the cell surface.<\/jats:p><jats:p><jats:bold>Methods:\u2003<\/jats:bold> We analysed the <jats:italic>AVPR2<\/jats:italic> gene in 14 unrelated patients with X\u2010linked nephrogenic diabetes insipidus, and found 13 different mutations including eight missense point mutations. The cellular expression patterns of three missense mutant (A98P, L274P and R113W) and wild\u2010type V2R were determined in transfected COS\u20107 cells.<\/jats:p><jats:p><jats:bold>Results:\u2003<\/jats:bold> In contrast to wild\u2010type V2R, the cell\u2010surface expressions of mutant receptors were totally (A98P and L274P) or partially (R113W) absent. Instead, they were retained intracellularly. However, treatment of cells with two chemical chaperones (100\u2003mmol\/L trimethylamine oxide or 2% dimethyl sulfoxide) or incubation at 26\u00b0C restored the cell\u2010surface expressions of mutant receptors.<\/jats:p><jats:p><jats:bold>Conclusion:\u2003<\/jats:bold> These data show that some chemical chaperones correct the mistrafficking of misfolded A98P, L274P and R113W V2R. Thus, we believe that a therapeutic strategy based on chemical chaperones in patients with these mutations is worth trying.<\/jats:p>","DOI":"10.1111\/j.1440-1797.2006.00759.x","type":"journal-article","created":{"date-parts":[[2007,2,7]],"date-time":"2007-02-07T01:28:30Z","timestamp":1170811710000},"page":"113-117","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones"],"prefix":"10.1111","volume":"12","author":[{"given":"HAE IL","family":"CHEONG","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HEE YEON","family":"CHO","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HYE WON","family":"PARK","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"IL SOO","family":"HA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"YONG","family":"CHOI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,2,6]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"crossref","unstructured":"FujiwaraTM BichetDG.Molecular biology of hereditary diabetes insipidus.J. 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