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New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes

Bibliographic reference Leduc-Nadeau, Alexandre ; Devuyst, Olivier ; Lussier, Yoann ; Arthus, Marie-Francoise ; Lonergan, Michele ; et. al. New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes. In: The Journal of Physiology, Vol. 588, no. Pt 12, p. 2205-18 (2010)
Permanent URL http://hdl.handle.net/2078.1/33766
  1. Bissonnette Pierre, Noël Josette, Coady Michael J., Lapointe Jean-Yves, Functional expression of tagged human Na+-glucose cotransporter inXenopus laevisoocytes, 10.1111/j.1469-7793.1999.00359.x
  2. de Mattia F., Lack of Arginine Vasopressin-Induced Phosphorylation of Aquaporin-2 Mutant AQP2-R254L Explains Dominant Nephrogenic Diabetes Insipidus, 10.1681/asn.2005010104
  3. Deen P M, Croes H, van Aubel R A, Ginsel L A, van Os C H, Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing., 10.1172/jci117920
  4. DEEN P, Routing of the aquaporin-2 water channel in health and disease, 10.1078/0171-9335-00075
  5. Duquette P.-P., Bissonnette P., Lapointe J.-Y., Local osmotic gradients drive the water flux associated with Na+/glucose cotransport, 10.1073/pnas.071245198
  6. Guyon, Am J Physiol Renal Physiol (2009a)
  7. Guyon C., Lussier Y., Bissonnette P., Leduc-Nadeau A., Lonergan M., Arthus M.-F., Perez R. B., Tiulpakov A., Lapointe J.-Y., Bichet D. G., Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype, 10.1152/ajprenal.90589.2008
  8. Hendriks Giel, Koudijs Marco, van Balkom Bas W. M., Oorschot Viola, Klumperman Judith, Deen Peter M. T., van der Sluijs Peter, Glycosylation Is Important for Cell Surface Expression of the Water Channel Aquaporin-2 but Is Not Essential for Tetramerization in the Endoplasmic Reticulum, 10.1074/jbc.m310767200
  9. Kamsteeg Erik-Jan, Bichet Daniel G., Konings Irene B.M., Nivet Hubert, Lonergan Michelle, Arthus Marie-Françoise, van Os Carel H., Deen Peter M.T., Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus, 10.1083/jcb.200309017
  10. Kamsteeg, Am J Physiol Renal Physiol, 279, F778 (2000)
  11. Kamsteeg Erik-Jan, Deen Peter M.T., Detection of Aquaporin-2 in the Plasma Membranes of Oocytes: A Novel Isolation Method with Improved Yield and Purity, 10.1006/bbrc.2001.4629
  12. Kamsteeg Erik-Jan, Wormhoudt Thera A.M., Rijss Johan P.L., van Os Carel H., Deen Peter M.T., An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus, 10.1093/emboj/18.9.2394
  13. Kuwahara Michio, Iwai Kazuyuki, Ooeda Toru, Igarashi Takashi, Ogawa Eishin, Katsushima Yuriko, Shinbo Itsuki, Uchida Shinichi, Terada Yoshio, Arthus Marie-Francoise, Lonergan Michele, Fujiwara T. Mary, Bichet Daniel G., Marumo Fumiaki, Sasaki Sei, Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-Terminus, 10.1086/323643
  14. Leduc-Nadeau A., Lahjouji K., Bissonnette P., Lapointe J.-Y., Bichet D. G., Elaboration of a novel technique for purification of plasma membranes from Xenopus laevis oocytes, 10.1152/ajpcell.00136.2006
  15. Levin Marc H., Haggie Peter M., Vetrivel L., Verkman A. S., Diffusion in the Endoplasmic Reticulum of an Aquaporin-2 Mutant Causing Human Nephrogenic Diabetes Insipidus, 10.1074/jbc.m101901200
  16. Lin Shih-Hua, Bichet Daniel G., Sasaki Sei, Kuwahara Michio, Arthus Marie-Francoise, Lonergan Michele, Lin Yuh-Feng, Two Novel Aquaporin-2 Mutations Responsible for Congenital Nephrogenic Diabetes Insipidus in Chinese Families, 10.1210/jcem.87.6.8617
  17. Marr N., Cell-Biologic and Functional Analyses of Five New Aquaporin-2 Missense Mutations that Cause Recessive Nephrogenic Diabetes Insipidus, 10.1097/01.asn.0000027355.41663.14
  18. Marr N., Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus, 10.1093/hmg/11.7.779
  19. Marr N., Kamsteeg E.J., van Raak M., van Os C.H, Deen P.M.T., Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus, 10.1007/s004240000498
  20. Mulders S M, Bichet D G, Rijss J P, Kamsteeg E J, Arthus M F, Lonergan M, Fujiwara M, Morgan K, Leijendekker R, van der Sluijs P, van Os C H, Deen P M, An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex., 10.1172/jci2605
  21. Robben J. H., Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus, 10.1152/ajprenal.00491.2005
  22. Shinbo, Am J Physiol Renal Physiol, 277, F734 (1999)
  23. Tamarappoo B K, Verkman A S, Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones., 10.1172/jci2303
  24. Umenishi Fuminori, Narikiyo Takefumi, Schrier Robert W., Effect on stability, degradation, expression, and targeting of aquaporin-2 water channel by hyperosmolality in renal epithelial cells, 10.1016/j.bbrc.2005.10.127
  25. Wu Binghua, Steinbronn Christina, Alsterfjord Magnus, Zeuthen Thomas, Beitz Eric, Concerted action of two cation filters in the aquaporin water channel, 10.1038/emboj.2009.182
  26. Yamauchi Kazushi, Fushimi Kiyohide, Yamashita Yumi, Shinbo Itsuki, Sasaki Sei, Marumo Fumiaki, Effects of missense mutations on rat aquaporin-2 in LLC-PK1 porcine kidney cells, 10.1046/j.1523-1755.1999.00523.x