메뉴 건너뛰기




Volumn 16, Issue 5, 1997, Pages 899-907

A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel

Author keywords

Amiloride; Channel gating; Epithelial sodium channel; Pseudohypoaldosteronism; Salt wasting syndrome

Indexed keywords

AMILORIDE; CELL SURFACE PROTEIN; GLYCINE; PROTEIN SUBUNIT; SODIUM CHANNEL;

EID: 0344743590     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1093/emboj/16.5.899     Document Type: Article
Times cited : (188)

References (28)
  • 1
    • 0027483065 scopus 로고
    • Epithelial sodium channel related to proteins involved in neurodegeneration
    • Canessa, C.M., Horisberger, J.D. and Rossier, B.C. (1993) Epithelial sodium channel related to proteins involved in neurodegeneration. Nature, 361, 467-470.
    • (1993) Nature , vol.361 , pp. 467-470
    • Canessa, C.M.1    Horisberger, J.D.2    Rossier, B.C.3
  • 2
    • 0028252575 scopus 로고
    • Membrane topology of the epithelial sodium channel in intact cells
    • Canessa, C.M., Merillat, A.-M. and Rossier, B.C. (1994a) Membrane topology of the epithelial sodium channel in intact cells. Am. J. Physiol., 267, C1682-C1690.
    • (1994) Am. J. Physiol. , vol.267
    • Canessa, C.M.1    Merillat, A.-M.2    Rossier, B.C.3
  • 4
    • 0025328345 scopus 로고
    • The identification and suppression of inherited neurodegeneration in Caernorhabditis elegans
    • Chalfie, M. and Wolinsky, E. (1990) The identification and suppression of inherited neurodegeneration in Caernorhabditis elegans. Nature, 345, 410-416.
    • (1990) Nature , vol.345 , pp. 410-416
    • Chalfie, M.1    Wolinsky, E.2
  • 6
    • 13344295074 scopus 로고    scopus 로고
    • Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
    • Chang, S.S. et al. (1996) Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nature Genet., 12, 248-253.
    • (1996) Nature Genet. , vol.12 , pp. 248-253
    • Chang, S.S.1
  • 7
    • 0028588619 scopus 로고
    • Cell-specific expression of epithelial sodium channel α, β, and γ subunits in aldosterone-responsive epithelia from the rat: Localization by in situ hybridization and immunocytochemistry
    • Duc, C., Farman, N., Canessa, C.M., Bonvalet, J.-P. and Rossier, B.C. (1994) Cell-specific expression of epithelial sodium channel α, β, and γ subunits in aldosterone-responsive epithelia from the rat: localization by in situ hybridization and immunocytochemistry. J. Cell Biol., 127, 1907-1921.
    • (1994) J. Cell Biol. , vol.127 , pp. 1907-1921
    • Duc, C.1    Farman, N.2    Canessa, C.M.3    Bonvalet, J.-P.4    Rossier, B.C.5
  • 8
    • 0030451774 scopus 로고    scopus 로고
    • Cell surface expression of the epithelial sodium channel and a mutant causing Liddle syndrome: A quantitative approach
    • Firsov, D., Schild, L., Gautschi, I., Mérillat, A.-M., Schneeberger, E. and Rossier, B.C. (1996) Cell surface expression of the epithelial sodium channel and a mutant causing Liddle syndrome: A quantitative approach. Proc. Natl Acad. Sci. USA, 93, 15370-15375.
    • (1996) Proc. Natl Acad. Sci. USA , vol.93 , pp. 15370-15375
    • Firsov, D.1    Schild, L.2    Gautschi, I.3    Mérillat, A.-M.4    Schneeberger, E.5    Rossier, B.C.6
  • 9
    • 18144438853 scopus 로고
    • A role for the β-subunit in the expression of functional Na, K-ATPase in Xenopus oocytes
    • Geering, K., Theulaz, I., Verrey, F., Hauptle, M.T. and Rossier, B.C. (1989) A role for the β-subunit in the expression of functional Na, K-ATPase in Xenopus oocytes. Am. J. Physiol., 257, C851-C858.
    • (1989) Am. J. Physiol. , vol.257
    • Geering, K.1    Theulaz, I.2    Verrey, F.3    Hauptle, M.T.4    Rossier, B.C.5
  • 10
    • 0029092801 scopus 로고
    • Hypertension caused by a truncated epithelial sodium channel γ subunit: Genetic heterogeneity of Liddle syndrome
    • Hansson, J.H. et al. (1995) Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndrome. Nature Genet., 11, 76-82.
    • (1995) Nature Genet. , vol.11 , pp. 76-82
    • Hansson, J.H.1
  • 11
    • 0028127759 scopus 로고
    • Gene interactions affecting mechanosensory transduction in Caenorhabditis elegans
    • Huang, M. and Chalfie, M. (1994) Gene interactions affecting mechanosensory transduction in Caenorhabditis elegans. Nature, 367, 467-470.
    • (1994) Nature , vol.367 , pp. 467-470
    • Huang, M.1    Chalfie, M.2
  • 12
    • 0026801949 scopus 로고
    • Aldosterone alters the open probability of amiloride-blockable sodium channels in A6 epithelia
    • Kemendy, A.E., Kleyman, T.R. and Eaton, D.C. (1992) Aldosterone alters the open probability of amiloride-blockable sodium channels in A6 epithelia. Am. J. Physiol., 263, C825-C837.
    • (1992) Am. J. Physiol. , vol.263
    • Kemendy, A.E.1    Kleyman, T.R.2    Eaton, D.C.3
  • 13
    • 0029041610 scopus 로고
    • Alternatively spliced forms of the α subunit of the epithelial sodium channel: Distinct sites for amiloride binding and channel pore
    • Li, X.-J., Xu, R.-H., Guggino, W.B. and Snyder, S.H. (1995) Alternatively spliced forms of the α subunit of the epithelial sodium channel: distinct sites for amiloride binding and channel pore. Mol. Pharmacol., 47, 1133-1140.
    • (1995) Mol. Pharmacol. , vol.47 , pp. 1133-1140
    • Li, X.-J.1    Xu, R.-H.2    Guggino, W.B.3    Snyder, S.H.4
  • 15
    • 0029005859 scopus 로고
    • Cloning and expression of the β- and γ-subunits of the human epithelial sodium channel
    • McDonald, F.J., Price, M.P., Snyder, P.M. and Welsh, M.J. (1995) Cloning and expression of the β- and γ-subunits of the human epithelial sodium channel. Am. J. Physiol., 268, C1157-C1163.
    • (1995) Am. J. Physiol. , vol.268
    • McDonald, F.J.1    Price, M.P.2    Snyder, P.M.3    Welsh, M.J.4
  • 16
    • 1842321591 scopus 로고
    • + channels from the apical membrane of the rat cortical collecting tubule
    • + channels from the apical membrane of the rat cortical collecting tubule. Proc. Natl Acad. Sci. USA, 83, 2767-2770.
    • (1986) Proc. Natl Acad. Sci. USA , vol.83 , pp. 2767-2770
    • Palmer, L.G.1    Frindt, G.2
  • 17
    • 0030033429 scopus 로고    scopus 로고
    • Gating of Na channels in the rat cortical collecting tubule: Effects of voltage and membrane stretch
    • Palmer, L.G. and Frindt, G. (1996) Gating of Na channels in the rat cortical collecting tubule: effects of voltage and membrane stretch. J. Gen. Physiol., 107, 35-45.
    • (1996) J. Gen. Physiol. , vol.107 , pp. 35-45
    • Palmer, L.G.1    Frindt, G.2
  • 18
    • 0028893549 scopus 로고
    • The highly selective low-conductance epithelial Na channel of Xenopus laevis A6 kidney cells
    • Puoti, A., May, A., Canessa, C.M., Horisberger, J.-D., Schild, L. and Rossier, B.C. (1995) The highly selective low-conductance epithelial Na channel of Xenopus laevis A6 kidney cells. Am. J. Physiol., 38, C188-C197.
    • (1995) Am. J. Physiol. , vol.38
    • Puoti, A.1    May, A.2    Canessa, C.M.3    Horisberger, J.-D.4    Schild, L.5    Rossier, B.C.6
  • 20
    • 0001316575 scopus 로고
    • Mechanisms of aldosterone action on sodium and potassium transport
    • Seldin, D.W. and Giebiesch, G. L. (eds), Raven Press, New York
    • Rossier, B.C. and Palmer, L.G. (1992) Mechanisms of aldosterone action on sodium and potassium transport. In Seldin, D.W. and Giebiesch, G. L. (eds), The Kidney, Physiology and Pathophysiology. Raven Press, New York, pp. 1373-1409.
    • (1992) The Kidney, Physiology and Pathophysiology , pp. 1373-1409
    • Rossier, B.C.1    Palmer, L.G.2
  • 22
    • 0029046975 scopus 로고
    • A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system
    • Schild, L., Canessa, C.M., Shimkets, R.A., Gautschi, I., Lifton, R.P. and Rossier, B.C. (1995) A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system. Proc. Natl Acad. Sci. USA, 92, 5699-5703.
    • (1995) Proc. Natl Acad. Sci. USA , vol.92 , pp. 5699-5703
    • Schild, L.1    Canessa, C.M.2    Shimkets, R.A.3    Gautschi, I.4    Lifton, R.P.5    Rossier, B.C.6
  • 23
    • 0027946089 scopus 로고
    • Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel
    • Shimkets, R.A. et al. (1994) Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell, 79, 407-414.
    • (1994) Cell , vol.79 , pp. 407-414
    • Shimkets, R.A.1
  • 24
    • 0028102539 scopus 로고
    • Membrane topology of the amiloride-sensitive epithelial sodium channel
    • Snyder, P.M., McDonald, F.J., Stokes, J.B. and Welsh, M.J. (1994) Membrane topology of the amiloride-sensitive epithelial sodium channel. J. Biol. Chem., 269, 24379-24383.
    • (1994) J. Biol. Chem. , vol.269 , pp. 24379-24383
    • Snyder, P.M.1    McDonald, F.J.2    Stokes, J.B.3    Welsh, M.J.4
  • 26
    • 0030068042 scopus 로고    scopus 로고
    • A novel splice-site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families
    • Strautnieks, S.S., Thompson, R.J., Gardiner, R.M. and Chung, E. (1996) A novel splice-site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nature Genet., 13, 248-250.
    • (1996) Nature Genet. , vol.13 , pp. 248-250
    • Strautnieks, S.S.1    Thompson, R.J.2    Gardiner, R.M.3    Chung, E.4
  • 27
    • 0029918734 scopus 로고    scopus 로고
    • Liddle disease caused by a missense mutation of β subunit of the epithelial sodium channel gene
    • Tamura, H., Schild, L., Enomoto, N., Matsui, N., Marumo, F., Rossier, B.C. and Sasaki, S. (1996) Liddle disease caused by a missense mutation of β subunit of the epithelial sodium channel gene. J. Clin. Invest., 97, 1780-1784.
    • (1996) J. Clin. Invest. , vol.97 , pp. 1780-1784
    • Tamura, H.1    Schild, L.2    Enomoto, N.3    Matsui, N.4    Marumo, F.5    Rossier, B.C.6    Sasaki, S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.