메뉴 건너뛰기




Volumn 50, Issue 4, 1996, Pages 820-828

Vasopressin V2 receptor mutants that cause X-linked nephrogenic diabetes insipidus: Analysis of expression, processing, and function

Author keywords

[No Author keywords available]

Indexed keywords

VASOPRESSIN V2 RECEPTOR;

EID: 0029860102     PISSN: 0026895X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (71)

References (37)
  • 4
    • 0026937176 scopus 로고
    • Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus
    • Pan, Y., A. Metzenberg, S. Das, B. Jing, and J. Gitschier. Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nat. Genet. 2:103-106 (1992).
    • (1992) Nat. Genet. , vol.2 , pp. 103-106
    • Pan, Y.1    Metzenberg, A.2    Das, S.3    Jing, B.4    Gitschier, J.5
  • 7
    • 0028567231 scopus 로고
    • Molecular characterization of nephrogenic diabetes insipidus
    • Knoers, N. V. A. M. Molecular characterization of nephrogenic diabetes insipidus. Trends Endocrinol. Metab. 5:422-428 (1994).
    • (1994) Trends Endocrinol. Metab. , vol.5 , pp. 422-428
    • Knoers, N.V.A.M.1
  • 8
    • 0028908352 scopus 로고
    • Molecular biology of diabetes insipidus
    • Fujiwara, M., and K. Morgan. Molecular biology of diabetes insipidus. Annu. Rev. Med. 46:331-343 (1995).
    • (1995) Annu. Rev. Med. , vol.46 , pp. 331-343
    • Fujiwara, M.1    Morgan, K.2
  • 9
    • 0028933842 scopus 로고
    • Mutations and diseases of G protein coupled receptors
    • Birnbaumer, M. Mutations and diseases of G protein coupled receptors. J. Recept. Signal Transduction Res. 15:131-160 (1995).
    • (1995) J. Recept. Signal Transduction Res. , vol.15 , pp. 131-160
    • Birnbaumer, M.1
  • 10
    • 0028968593 scopus 로고
    • Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing
    • Deen, P. M. T., H. Croes, R. A. M. H. van Aubel, L. A. Ginsel, and C. H. van Os. 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).
    • (1995) J. Clin. Invest. , vol.95 , pp. 2291-2296
    • Deen, P.M.T.1    Croes, H.2    Van Aubel, R.A.M.H.3    Ginsel, L.A.4    Van Os, C.H.5
  • 11
    • 0028226034 scopus 로고
    • An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system
    • Birnbaumer, M., S. Gilbert, and W. Rosenthal. An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system. Mol. Endocrinol. 8:886-894 (1994).
    • (1994) Mol. Endocrinol. , vol.8 , pp. 886-894
    • Birnbaumer, M.1    Gilbert, S.2    Rosenthal, W.3
  • 12
    • 0027948084 scopus 로고
    • The effect of eight V2 vasopressin receptor mutations on stimulation of adenylyl cyclase and binding to vasopressin
    • Pan, Y., P. Wilson, and J. Gitschier. The effect of eight V2 vasopressin receptor mutations on stimulation of adenylyl cyclase and binding to vasopressin. J. Biol. Chem. 269:31933-31937 (1994).
    • (1994) J. Biol. Chem. , vol.269 , pp. 31933-31937
    • Pan, Y.1    Wilson, P.2    Gitschier, J.3
  • 13
    • 0028866929 scopus 로고
    • Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus
    • Tsukaguchi, H., H. Matsubara, S. Taketani, Y. Mori, T. Seido, and M. Inada. Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. J. Clin. Invest. 96:2043-2050 (1995).
    • (1995) J. Clin. Invest. , vol.96 , pp. 2043-2050
    • Tsukaguchi, H.1    Matsubara, H.2    Taketani, S.3    Mori, Y.4    Seido, T.5    Inada, M.6
  • 14
    • 0027430336 scopus 로고
    • Nephrogenic diabetes insipidus: A V2 vasopressin receptor unable to stimulate adenylyl cyclase
    • Rosenthal, W., A. Antaramian, S. Gilbert, and M. Birnbaumer. Nephrogenic diabetes insipidus: a V2 vasopressin receptor unable to stimulate adenylyl cyclase. J. Biol. Chem. 268:13030-13033 (1993).
    • (1993) J. Biol. Chem. , vol.268 , pp. 13030-13033
    • Rosenthal, W.1    Antaramian, A.2    Gilbert, S.3    Birnbaumer, M.4
  • 16
    • 0028180789 scopus 로고
    • Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus
    • Knoers, N. V. A. M., A. M. W. van den Ouweland, M. Verdijk, L. A. H. Monnens, and B. A. van Oost. Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus. Kidney Int. 46:170-176 (1994).
    • (1994) Kidney Int. , vol.46 , pp. 170-176
    • Knoers, N.V.A.M.1    Van Den Ouweland, A.M.W.2    Verdijk, M.3    Monnens, L.A.H.4    Van Oost, B.A.5
  • 17
    • 0028133117 scopus 로고
    • Heterogenous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus
    • Wildin, E. S., M. J. Antush, R. L. Bennett, J. M. Schoof, and C. R. Scott. Heterogenous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. Am. J. Hum. Genet. 55:266-277 (1994).
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 266-277
    • Wildin, E.S.1    Antush, M.J.2    Bennett, R.L.3    Schoof, J.M.4    Scott, C.R.5
  • 21
    • 0030031586 scopus 로고    scopus 로고
    • Properties of the human arginine vasopressin V2 receptor after site-directed mutagenesis of its putative palmitoylation site
    • Schülein, R., U. Liebenhoff, H. Müller, M. Birnbaumer, and W. Rosenthal. Properties of the human arginine vasopressin V2 receptor after site-directed mutagenesis of its putative palmitoylation site. Biochem. J. 313: 611-616 (1996).
    • (1996) Biochem. J. , vol.313 , pp. 611-616
    • Schülein, R.1    Liebenhoff, U.2    Müller, H.3    Birnbaumer, M.4    Rosenthal, W.5
  • 22
    • 0000632797 scopus 로고
    • TnPhoA: A transposon probe for protein export signals
    • Manoil, C., and J. Beckwith. TnPhoA: a transposon probe for protein export signals. Proc. Natl. Acad. Sci. USA 82:8129-8133 (1985).
    • (1985) Proc. Natl. Acad. Sci. USA , vol.82 , pp. 8129-8133
    • Manoil, C.1    Beckwith, J.2
  • 23
    • 0026766441 scopus 로고
    • A topological model for the haemolysin translocator protein HIyD
    • Schülein, R., I. Gentschev, H. J. Mollenkopf, and W. Goebel. A topological model for the haemolysin translocator protein HIyD. Mol. Gen. Genet. 234:155-163 (1992).
    • (1992) Mol. Gen. Genet. , vol.234 , pp. 155-163
    • Schülein, R.1    Gentschev, I.2    Mollenkopf, H.J.3    Goebel, W.4
  • 24
    • 0029851127 scopus 로고    scopus 로고
    • Membrane targeting and determnination of transmembrane topology of the human vasopressin V2 receptor
    • in press
    • 23a.Schülein, R., C. Rutz, and W. Rosenthal. Membrane targeting and determnination of transmembrane topology of the human vasopressin V2 receptor. J. Biol. Chem., in press.
    • J. Biol. Chem.
    • Schülein, R.1    Rutz, C.2    Rosenthal, W.3
  • 25
    • 0016374975 scopus 로고
    • A highly sensitive adenylyl cyclase assay
    • Salmon, Y., C. Londos, and M. Rodbell. A highly sensitive adenylyl cyclase assay. Anal. Biochem. 58:541-548 (1974).
    • (1974) Anal. Biochem. , vol.58 , pp. 541-548
    • Salmon, Y.1    Londos, C.2    Rodbell, M.3
  • 26
    • 0021678736 scopus 로고
    • Electroblotting of multiple gels: A simple apparatus without buffer tank for rapid transfer of proteins from polyacrylamide to nitrocellulose
    • Khyse-Andersen, J. Electroblotting of multiple gels: a simple apparatus without buffer tank for rapid transfer of proteins from polyacrylamide to nitrocellulose. J. Biochem. Biophys. Methods 10:203-209 (1984).
    • (1984) J. Biochem. Biophys. Methods , vol.10 , pp. 203-209
    • Khyse-Andersen, J.1
  • 27
    • 0020995483 scopus 로고
    • Structure of two human β-actin-related processed genes one of which is located next to a simple repetitive sequence
    • Moos, M., and D. Gallwitz. Structure of two human β-actin-related processed genes one of which is located next to a simple repetitive sequence. EMBO J. 2:757-761 (1983).
    • (1983) EMBO J. , vol.2 , pp. 757-761
    • Moos, M.1    Gallwitz, D.2
  • 28
    • 0027506471 scopus 로고
    • The probable arrangement of the helices in G proteincoupled receptors
    • Baldwin, J. M. The probable arrangement of the helices in G proteincoupled receptors. EMBO J. 12:1693-1703 (1993).
    • (1993) EMBO J. , vol.12 , pp. 1693-1703
    • Baldwin, J.M.1
  • 29
    • 0027509460 scopus 로고
    • Analysis of the topology of a membrane protein by using a minimum number of alkaline phosphatase fusions
    • Boyd, D., B. Traxler, and J. Beckwith. Analysis of the topology of a membrane protein by using a minimum number of alkaline phosphatase fusions. J. Bacteriol. 175:553-556 (1993).
    • (1993) J. Bacteriol. , vol.175 , pp. 553-556
    • Boyd, D.1    Traxler, B.2    Beckwith, J.3
  • 31
    • 0029144920 scopus 로고
    • Probing the transmembrane topology of cyclic nucleotide-gated ion channels with a gene fusion approach
    • Henn, D. K., A. Baumann, and U. B. Kaupp. Probing the transmembrane topology of cyclic nucleotide-gated ion channels with a gene fusion approach. Proc. Natl. Acad. Sci. USA 92:7425-7429 (1995).
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 7425-7429
    • Henn, D.K.1    Baumann, A.2    Kaupp, U.B.3
  • 32
    • 0029048812 scopus 로고
    • Multidrug resistance protein (Mdr)-alkaline phosphatase hybrids in Escherichia coli suggest a major revision in the topology of the C-terminal half of Mdr
    • Béjà, O., and E. Bibi. Multidrug resistance protein (Mdr)-alkaline phosphatase hybrids in Escherichia coli suggest a major revision in the topology of the C-terminal half of Mdr. J. Biol. Chem. 270:12351-12354 (1995).
    • (1995) J. Biol. Chem. , vol.270 , pp. 12351-12354
    • Béjà, O.1    Bibi, E.2
  • 33
    • 0028006681 scopus 로고
    • Intracellular turnover of cystic fibrosis transmembrane conductance regulator
    • Ward, C. L., and R. R. Kopito. Intracellular turnover of cystic fibrosis transmembrane conductance regulator. J. Biol. Chem. 269:25710-25718 (1994).
    • (1994) J. Biol. Chem. , vol.269 , pp. 25710-25718
    • Ward, C.L.1    Kopito, R.R.2
  • 34
    • 0025667804 scopus 로고
    • Three-dimensional modelling of G protein-linked receptors
    • Findlay, J. B., and E. Eliopoulos. Three-dimensional modelling of G protein-linked receptors. Trends Pharmacol. Sci. 11:492-499 (1990).
    • (1990) Trends Pharmacol. Sci. , vol.11 , pp. 492-499
    • Findlay, J.B.1    Eliopoulos, E.2
  • 35
    • 0027533339 scopus 로고
    • Functional role of proline and tryptophan residues highly conserved among G protein-coupled receptors studied by mutational analysis of the m3 muscarinic receptor
    • Wess, J., S. Nanavati, Z. Vogel, and R. Maggio. Functional role of proline and tryptophan residues highly conserved among G protein-coupled receptors studied by mutational analysis of the m3 muscarinic receptor. EMBO J. 12:331-338 (1993).
    • (1993) EMBO J. , vol.12 , pp. 331-338
    • Wess, J.1    Nanavati, S.2    Vogel, Z.3    Maggio, R.4
  • 36
    • 0025729153 scopus 로고
    • Spectral tuning of pigments underlying red-green color vision
    • Neitz, M., J. Neitz, and G. H. Jacobs. Spectral tuning of pigments underlying red-green color vision. Science (Washington D. C.) 252:971-974 (1991).
    • (1991) Science (Washington D. C.) , vol.252 , pp. 971-974
    • Neitz, M.1    Neitz, J.2    Jacobs, G.H.3
  • 37
    • 0024344941 scopus 로고
    • Identification of two serine residues involved in agonist activation of the β-adrenergic receptor
    • Strader, C., M. R. Candelore, W. S. Hill, I. S. Sigal, and R. A. F. Dixon. Identification of two serine residues involved in agonist activation of the β-adrenergic receptor. J. Biol. Chem. 264:13572-13578 (1989).
    • (1989) J. Biol. Chem. , vol.264 , pp. 13572-13578
    • Strader, C.1    Candelore, M.R.2    Hill, W.S.3    Sigal, I.S.4    Dixon, R.A.F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.