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Volumn 1, Issue 2, 2005, Pages 0171-0178

Diabetes insipidus in mice with a mutation in aquaporin-2

Author keywords

[No Author keywords available]

Indexed keywords

AQP2 PROTEIN, MOUSE; AQUAPORIN 2; ETHYLNITROSOUREA;

EID: 33745837884     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.0010020     Document Type: Article
Times cited : (53)

References (27)
  • 1
    • 0142244612 scopus 로고    scopus 로고
    • Diabetes insipidus
    • Maghnie M (2003) Diabetes insipidus. Horm Res 59 Suppl 1: 42-54.
    • (2003) Horm Res , vol.59 , Issue.1 SUPPL. , pp. 42-54
    • Maghnie, M.1
  • 2
    • 0026935109 scopus 로고
    • Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus
    • van den Ouweland AM, Dreesen JC, Verdijk M, Knoers NV, Monnens LA, et al. (1992) Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nat Genet 2: 99-102.
    • (1992) Nat Genet , vol.2 , pp. 99-102
    • Van Den Ouweland, A.M.1    Dreesen, J.C.2    Verdijk, M.3    Knoers, N.V.4    Monnens, L.A.5
  • 3
    • 0028326794 scopus 로고
    • Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine
    • Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, et al. (1994) Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science 264: 92-95.
    • (1994) Science , vol.264 , pp. 92-95
    • Deen, P.M.1    Verdijk, M.A.2    Knoers, N.V.3    Wieringa, B.4    Monnens, L.A.5
  • 4
    • 4444221676 scopus 로고    scopus 로고
    • From structure to disease: The evolving tale of aquaporin biology
    • King LS, Kozono D, Agre P (2004) From structure to disease: The evolving tale of aquaporin biology. Nat Rev Mol Cell Biol 5: 687-698.
    • (2004) Nat Rev Mol Cell Biol , vol.5 , pp. 687-698
    • King, L.S.1    Kozono, D.2    Agre, P.3
  • 5
    • 0027459174 scopus 로고
    • Cloning and expression of apical membrane water channel of rat kidney collecting tubule
    • Fushimi K, Uchida S, Kara Y, Hirata Y, Marumo F, et al. (1993) Cloning and expression of apical membrane water channel of rat kidney collecting tubule. Nature 361: 549-552.
    • (1993) Nature , vol.361 , pp. 549-552
    • Fushimi, K.1    Uchida, S.2    Kara, Y.3    Hirata, Y.4    Marumo, F.5
  • 6
    • 0346849713 scopus 로고    scopus 로고
    • Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus
    • Kamsteeg EJ, Bichet DG, Konings IB, Nivet H, Lonergan M, et al. (2003) Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus. J Cell Biol 163: 1099-1109.
    • (2003) J Cell Biol , vol.163 , pp. 1099-1109
    • Kamsteeg, E.J.1    Bichet, D.G.2    Konings, I.B.3    Nivet, H.4    Lonergan, M.5
  • 7
    • 0028795481 scopus 로고
    • Redistribution of aquaporin-2 water channels induced by vasopressin in rat kidney inner medullary collecting duct
    • Marples D, Knepper MA, Christensen EI, Nielsen S (1995) Redistribution of aquaporin-2 water channels induced by vasopressin in rat kidney inner medullary collecting duct. Am J Physiol 269: C655-664.
    • (1995) Am J Physiol , vol.269
    • Marples, D.1    Knepper, M.A.2    Christensen, E.I.3    Nielsen, S.4
  • 8
    • 0028889112 scopus 로고
    • Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD water channels to plasma membrane
    • Nielsen S, Chou CL, Marples D, Christensen EI, Kishore BK, et al. (1995) Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD water channels to plasma membrane. Proc Natl Acad Sci U S A 92: 1013-1017.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 1013-1017
    • Nielsen, S.1    Chou, C.L.2    Marples, D.3    Christensen, E.I.4    Kishore, B.K.5
  • 9
    • 0030965161 scopus 로고    scopus 로고
    • Phosphorylation of serine 256 is required for cAMP-dependent regulatory exocytosis of the aquaporin-2 water channel
    • Fushimi K, Sasaki S, Marumo F (1997) Phosphorylation of serine 256 is required for cAMP-dependent regulatory exocytosis of the aquaporin-2 water channel. J Biol Chem 272: 14800-14804.
    • (1997) J Biol Chem , vol.272 , pp. 14800-14804
    • Fushimi, K.1    Sasaki, S.2    Marumo, F.3
  • 10
    • 0028088026 scopus 로고
    • Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene
    • van Lieburg AF, Verdijk MA, Knoers VV, van Essen AJ, Proesmans W, et al. (1994) Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet 55: 648-652.
    • (1994) Am J Hum Genet , vol.55 , pp. 648-652
    • Van Lieburg, A.F.1    Verdijk, M.A.2    Knoers, V.V.3    Van Essen, A.J.4    Proesmans, W.5
  • 11
    • 0028968593 scopus 로고
    • Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing
    • Deen PM, Croes H, van Aubel RA, Ginsel LA, van Os CH (1995) Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing. J Clin Invest 95: 2291-2296.
    • (1995) J Clin Invest , vol.95 , pp. 2291-2296
    • Deen, P.M.1    Croes, H.2    Van Aubel, R.A.3    Ginsel, L.A.4    Van Os, C.H.5
  • 12
    • 0037793030 scopus 로고    scopus 로고
    • Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations
    • Asai T, Kuwahara M, Kurihara H, Sakai T, Terada Y, et al. (2003) Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations. Kidney Int 64: 2-10.
    • (2003) Kidney Int , vol.64 , pp. 2-10
    • Asai, T.1    Kuwahara, M.2    Kurihara, H.3    Sakai, T.4    Terada, Y.5
  • 13
    • 0034636160 scopus 로고    scopus 로고
    • Nephrogenic diabetes insipidus in mice lacking aquaporin-3 water channels
    • Ma T, Song Y, Yang B, Gillespie A, Carlson EJ, et al. (2000) Nephrogenic diabetes insipidus in mice lacking aquaporin-3 water channels. Proc Natl Acad Sci U S A 97: 4386-4391.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 4386-4391
    • Ma, T.1    Song, Y.2    Yang, B.3    Gillespie, A.4    Carlson, E.J.5
  • 14
    • 0032549031 scopus 로고    scopus 로고
    • Severely impaired urinary concentrating ability in transgenic mice lacking aquaporin-1 water channels
    • Ma T, Yang B, Gillespie A, Carlson EJ, Epstein CJ, et al. (1998) Severely impaired urinary concentrating ability in transgenic mice lacking aquaporin-1 water channels. J Biol Chem 273: 4296-4299.
    • (1998) J Biol Chem , vol.273 , pp. 4296-4299
    • Ma, T.1    Yang, B.2    Gillespie, A.3    Carlson, E.J.4    Epstein, C.J.5
  • 15
    • 0033647173 scopus 로고    scopus 로고
    • Generation and phenotype of mice harboring a nonsense mutation in the V2 vasopressin receptor gene
    • Yun J, Schoneberg T, Liu J, Schulz A, Ecelbarger CA, et al. (2000) Generation and phenotype of mice harboring a nonsense mutation in the V2 vasopressin receptor gene. J Clin Invest 106: 1361-1371.
    • (2000) J Clin Invest , vol.106 , pp. 1361-1371
    • Yun, J.1    Schoneberg, T.2    Liu, J.3    Schulz, A.4    Ecelbarger, C.A.5
  • 16
    • 0035808368 scopus 로고    scopus 로고
    • Erythrocyte water permeability and renal function in double knockout mice lacking aquaporin-1 and aquaporin-3
    • Yang B, Ma T, Verkman AS (2001) Erythrocyte water permeability and renal function in double knockout mice lacking aquaporin-1 and aquaporin-3. J Biol Chem 276: 624-628.
    • (2001) J Biol Chem , vol.276 , pp. 624-628
    • Yang, B.1    Ma, T.2    Verkman, A.S.3
  • 17
    • 0032947011 scopus 로고    scopus 로고
    • Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel
    • Matsumura Y, Uchida S, Kondo Y, Miyazaki H, Ko SB, et al. (1999) Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel. Nat Genet 21: 95-98.
    • (1999) Nat Genet , vol.21 , pp. 95-98
    • Matsumura, Y.1    Uchida, S.2    Kondo, Y.3    Miyazaki, H.4    Ko, S.B.5
  • 18
    • 0035951776 scopus 로고    scopus 로고
    • Neonatal mortality in an aquaporin-2 knock-in mouse model of recessive nephrogenic diabetes insipidus
    • Yang B, Gillespie A, Carlson EJ, Epstein CJ, Verkman AS (2001) Neonatal mortality in an aquaporin-2 knock-in mouse model of recessive nephrogenic diabetes insipidus. J Biol Chem 276: 2775-2779.
    • (2001) J Biol Chem , vol.276 , pp. 2775-2779
    • Yang, B.1    Gillespie, A.2    Carlson, E.J.3    Epstein, C.J.4    Verkman, A.S.5
  • 19
    • 1842732175 scopus 로고    scopus 로고
    • Inositol (1,4,5) trisphosphate 3 kinase B controls positive selection of T cells and modulates Erk activity
    • Wen BG, Pletcher MT, Warashina M, Choe SH, Ziaee N, et al. (2004) Inositol (1,4,5) trisphosphate 3 kinase B controls positive selection of T cells and modulates Erk activity. Proc Natl Acad Sci U S A 101: 5604-5609.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 5604-5609
    • Wen, B.G.1    Pletcher, M.T.2    Warashina, M.3    Choe, S.H.4    Ziaee, N.5
  • 20
    • 0034813659 scopus 로고    scopus 로고
    • Genome-wide ENU mutagenesis to reveal immune regulators
    • Nelms KA, Goodnow CC (2001) Genome-wide ENU mutagenesis to reveal immune regulators. Immunity 15: 409-418.
    • (2001) Immunity , vol.15 , pp. 409-418
    • Nelms, K.A.1    Goodnow, C.C.2
  • 21
    • 0035661085 scopus 로고    scopus 로고
    • Molecular and cellular defects in nephrogenic diabetes insipidus
    • Knoers NV, Deen PM (2001) Molecular and cellular defects in nephrogenic diabetes insipidus. Pediatr Nephrol 16: 1146-1152.
    • (2001) Pediatr Nephrol , vol.16 , pp. 1146-1152
    • Knoers, N.V.1    Deen, P.M.2
  • 22
    • 1642494672 scopus 로고    scopus 로고
    • Glycosylation is important for cell surface expression of the water channel aquaporin-2 but is not essential for tetramerization in the endoplasmic reticulum
    • Hendriks G, Koudijs M, van Balkom BW, Oorschot V, Klumperman J, et al. (2004) Glycosylation is important for cell surface expression of the water channel aquaporin-2 but is not essential for tetramerization in the endoplasmic reticulum. J Biol Chem 279: 2975-2983.
    • (2004) J Biol Chem , vol.279 , pp. 2975-2983
    • Hendriks, G.1    Koudijs, M.2    Van Balkom, B.W.3    Oorschot, V.4    Klumperman, J.5
  • 23
    • 0028227129 scopus 로고
    • Molecular cloning and expression of a member of the aquaporin family with permeability to glycerol and urea in addition to water expressed at the basolateral membrane of kidney collecting duct cells
    • Ishibashi K, Sasaki S, Fushimi K, Uchida S, Kuwahara M, et al. (1994) Molecular cloning and expression of a member of the aquaporin family with permeability to glycerol and urea in addition to water expressed at the basolateral membrane of kidney collecting duct cells. Proc Natl Acad Sci U S A 91: 6269-6273.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 6269-6273
    • Ishibashi, K.1    Sasaki, S.2    Fushimi, K.3    Uchida, S.4    Kuwahara, M.5
  • 24
    • 0036537523 scopus 로고    scopus 로고
    • Heteroligomerization of an aquaporin-2 mutant with wild-type aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus
    • Marr N, Bichet DG, Lonergan M, Arthus MF, Jeck N, et al. (2002) Heteroligomerization of an aquaporin-2 mutant with wild-type aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus. Hum Mol Genet 11: 779-789.
    • (2002) Hum Mol Genet , vol.11 , pp. 779-789
    • Marr, N.1    Bichet, D.G.2    Lonergan, M.3    Arthus, M.F.4    Jeck, N.5
  • 25
    • 19944402481 scopus 로고    scopus 로고
    • A novel mechanism in recessive nephrogenic diabetes insipidus: Wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L
    • de Mattia F, Savelkoul PJ, Bichet DG, Kamsteeg EJ, Konings IB, et al. (2004) A novel mechanism in recessive nephrogenic diabetes insipidus: Wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L. Hum Mol Genet 13: 3045-3056.
    • (2004) Hum Mol Genet , vol.13 , pp. 3045-3056
    • De Mattia, F.1    Savelkoul, P.J.2    Bichet, D.G.3    Kamsteeg, E.J.4    Konings, I.B.5
  • 26
    • 0036899975 scopus 로고    scopus 로고
    • Oligosaccharyl transferase: Gatekeeper to the secretory pathway
    • Dempski RE Jr., Imperiali B (2002) Oligosaccharyl transferase: Gatekeeper to the secretory pathway. Curr Opin Chem Biol 6: 844-850.
    • (2002) Curr Opin Chem Biol , vol.6 , pp. 844-850
    • Dempski Jr., R.E.1    Imperiali, B.2
  • 27
    • 0032524048 scopus 로고    scopus 로고
    • Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones
    • Tamarappoo BK, Verkman AS (1998) Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones. J Clin Invest 101: 2257-2267.
    • (1998) J Clin Invest , vol.101 , pp. 2257-2267
    • Tamarappoo, B.K.1    Verkman, A.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.