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Volumn 18, Issue 9, 1999, Pages 2394-2400

An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus

Author keywords

Disease; Oligomerization; Oocytes; Recessive

Indexed keywords

AQUAPORIN;

EID: 0033522389     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1093/emboj/18.9.2394     Document Type: Article
Times cited : (177)

References (43)
  • 1
    • 0031843172 scopus 로고    scopus 로고
    • Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism
    • Cosma, M.P., Cardone, M., Carlomagno, F. and Colantuoni, V. (1998) Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism. Mol. Cell. Biol., 18, 3321-3329.
    • (1998) Mol. Cell. Biol. , vol.18 , pp. 3321-3329
    • Cosma, M.P.1    Cardone, M.2    Carlomagno, F.3    Colantuoni, V.4
  • 3
    • 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., Croes, H., van Aubel, R.A., Ginsel, L.A. and van Os, C.H. (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.T.1    Croes, H.2    Van Aubel, R.A.3    Ginsel, L.A.4    Van Os, C.H.5
  • 7
    • 0025945806 scopus 로고
    • Functional unit of 30 kDa for proximal tubule water channels as revealed by radiation inactivation
    • Hoek, A.N., Hom, M.L., Luthjens, L.H., de Jong, M.D., Dempster, J.A. and van Os, C.H. (1991) Functional unit of 30 kDa for proximal tubule water channels as revealed by radiation inactivation. J. Biol. Chem., 266, 16633-16635.
    • (1991) J. Biol. Chem. , vol.266 , pp. 16633-16635
    • Hoek, A.N.1    Hom, M.L.2    Luthjens, L.H.3    De Jong, M.D.4    Dempster, J.A.5    Van Os, C.H.6
  • 8
    • 0024461745 scopus 로고
    • Protein oligomerization in the endoplasmic reticulum
    • Hurtley, S.M. and Helenius, A. (1989) Protein oligomerization in the endoplasmic reticulum. Annu. Rev. Cell Biol., 5, 277-307.
    • (1989) Annu. Rev. Cell Biol. , vol.5 , pp. 277-307
    • Hurtley, S.M.1    Helenius, A.2
  • 9
    • 0005979648 scopus 로고
    • Monoclonal antibody against red blood cell CHIP28 protein
    • Jennings, M.L. (1992) Monoclonal antibody against red blood cell CHIP28 protein. J. Gen. Physiol., 100, 21A.
    • (1992) J. Gen. Physiol. , vol.100
    • Jennings, M.L.1
  • 10
    • 0028318868 scopus 로고
    • Molecular structure of the water channel through aquaporin CHIP. The hourglass model
    • Jung, J.S., Preston, G.M., Smith, B.L., Guggino, W.B. and Agre, P. (1994) Molecular structure of the water channel through aquaporin CHIP. The hourglass model. J. Biol. Chem., 269, 14648-14654.
    • (1994) J. Biol. Chem. , vol.269 , pp. 14648-14654
    • Jung, J.S.1    Preston, G.M.2    Smith, B.L.3    Guggino, W.B.4    Agre, P.5
  • 11
    • 0029085386 scopus 로고
    • Constitutive and regulated membrane expression of aquaporin 1 and aquaporin 2 water channels in stably transfected LLC-PK1 epithelial cells
    • Katsura, T., Verbavatz, J.M., Farinas, J., Ma, T., Ausiello, D.A., Verkman, A.S. and Brown, D. (1995) Constitutive and regulated membrane expression of aquaporin 1 and aquaporin 2 water channels in stably transfected LLC-PK1 epithelial cells. Proc. Natl Acad. Sci. USA, 92, 7212-7216.
    • (1995) Proc. Natl Acad. Sci. USA , vol.92 , pp. 7212-7216
    • Katsura, T.1    Verbavatz, J.M.2    Farinas, J.3    Ma, T.4    Ausiello, D.A.5    Verkman, A.S.6    Brown, D.7
  • 12
    • 0029942399 scopus 로고    scopus 로고
    • Pathophysiology of the aquaporin water channels
    • King, L.S. and Agre, P. (1996) Pathophysiology of the aquaporin water channels. Annu. Rev. Physiol., 58, 619-648.
    • (1996) Annu. Rev. Physiol. , vol.58 , pp. 619-648
    • King, L.S.1    Agre, P.2
  • 13
    • 0029972534 scopus 로고    scopus 로고
    • Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait
    • Koiwai, O., Aono, S., Adachi, Y., Kamisako, J., Yasui, Y., Nishizawa, M. and Sato, H. (1996) Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait. Hum. Mol. Genet., 5, 645-647.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 645-647
    • Koiwai, O.1    Aono, S.2    Adachi, Y.3    Kamisako, J.4    Yasui, Y.5    Nishizawa, M.6    Sato, H.7
  • 14
    • 0031556944 scopus 로고    scopus 로고
    • Characterisation of the major intrinsic protein (MIP) from bovine lens fibre membranes by electron microscopy and hydrodynamics
    • Konig, N., Zampighi, G.A. and Butler, P.J. (1997) Characterisation of the major intrinsic protein (MIP) from bovine lens fibre membranes by electron microscopy and hydrodynamics. J. Mol. Biol., 265, 590-602.
    • (1997) J. Mol. Biol. , vol.265 , pp. 590-602
    • Konig, N.1    Zampighi, G.A.2    Butler, P.J.3
  • 15
    • 0030949874 scopus 로고    scopus 로고
    • ER quality control: The cytoplasmic connection
    • Kopito, R.R. (1997) ER quality control: the cytoplasmic connection. Cell, 88, 427-430.
    • (1997) Cell , vol.88 , pp. 427-430
    • Kopito, R.R.1
  • 16
    • 0022721628 scopus 로고
    • Microinjected antibodies against the cytoplasmic domain of vesicular stomatitis virus glycoprotein block its transport to the cell surface
    • Kreis, T.E. (1986) Microinjected antibodies against the cytoplasmic domain of vesicular stomatitis virus glycoprotein block its transport to the cell surface. EMBO J., 5, 931-941.
    • (1986) EMBO J. , vol.5 , pp. 931-941
    • Kreis, T.E.1
  • 17
    • 0022453762 scopus 로고
    • The use of high-performance liquid chromatography for the determination of size and molecular weight of proteins: A caution and a list of membrane proteins suitable as standards
    • Le Maire, M., Aggerbeck, L.P., Monteilhet, C., Andersen, J.P. and Moller, J.V. (1986) The use of high-performance liquid chromatography for the determination of size and molecular weight of proteins: a caution and a list of membrane proteins suitable as standards. Anal. Biochem., 154, 525-535.
    • (1986) Anal. Biochem. , vol.154 , pp. 525-535
    • Le Maire, M.1    Aggerbeck, L.P.2    Monteilhet, C.3    Andersen, J.P.4    Moller, J.V.5
  • 18
    • 0028815297 scopus 로고
    • A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis
    • Li, Y. et al. (1995) A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell, 80, 423-430.
    • (1995) Cell , vol.80 , pp. 423-430
    • Li, Y.1
  • 19
    • 0028088026 scopus 로고
    • Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene
    • Lieburg, A.F. 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
    • Lieburg, A.F.1
  • 20
    • 0028795481 scopus 로고
    • Redistribution of aquaporin-2 water channels induced by vasopressin in rat kidney inner medullary collecting duct
    • Marples, D., Knepper, M.A., Christensen, E.I. and Nielsen, S. (1995) Redistribution of aquaporin-2 water channels induced by vasopressin in rat kidney inner medullary collecting duct. Am. J. Physiol., 38, C655-C664.
    • (1995) Am. J. Physiol. , vol.38
    • Marples, D.1    Knepper, M.A.2    Christensen, E.I.3    Nielsen, S.4
  • 21
    • 0031067089 scopus 로고    scopus 로고
    • New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels
    • Mulders, S.M. et al. (1997) New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. J. Am. Soc. Nephrol., 8, 242-248.
    • (1997) J. Am. Soc. Nephrol. , vol.8 , pp. 242-248
    • Mulders, S.M.1
  • 22
    • 0032128360 scopus 로고    scopus 로고
    • An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex
    • Mulders, S.M. et al. (1998) An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. J. Clin. Invest., 102, 57-66.
    • (1998) J. Clin. Invest. , vol.102 , pp. 57-66
    • Mulders, S.M.1
  • 23
    • 0027364529 scopus 로고
    • Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occurs after exit from the ER
    • Musil, L.S. and Goodenough, D.A. (1993) Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occurs after exit from the ER. Cell, 74, 1065-1077.
    • (1993) Cell , vol.74 , pp. 1065-1077
    • Musil, L.S.1    Goodenough, D.A.2
  • 24
    • 25944449903 scopus 로고    scopus 로고
    • Rat brain aquaporin-4 (AQP4) is a heterotetramer of 32 kDa and 34 kDa isoforms
    • Neely, J.D. and Agre, P. (1997) Rat brain aquaporin-4 (AQP4) is a heterotetramer of 32 kDa and 34 kDa isoforms. Mol. Biol. Cell, 8, 190a.
    • (1997) Mol. Biol. Cell , vol.8
    • Neely, J.D.1    Agre, P.2
  • 25
    • 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, C.L., Marples, D., Christensen, E.I., Kishore, B.K. and Knepper, M.A. (1995) Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD water channels to plasma membrane. Proc. Natl Acad. Sci. USA, 92, 1013-1017.
    • (1995) Proc. Natl Acad. Sci. USA , vol.92 , pp. 1013-1017
    • Nielsen, S.1    Chou, C.L.2    Marples, D.3    Christensen, E.I.4    Kishore, B.K.5    Knepper, M.A.6
  • 26
    • 0031717522 scopus 로고    scopus 로고
    • Renal aquaporins: Key roles in water balance and water balance disorders
    • Nielsen, S., Fror, J. and Knepper, M.A. (1998) Renal aquaporins: key roles in water balance and water balance disorders. Curr. Opin. Nephrol. Hypertens, 7, 509-516.
    • (1998) Curr. Opin. Nephrol. Hypertens , vol.7 , pp. 509-516
    • Nielsen, S.1    Fror, J.2    Knepper, M.A.3
  • 27
    • 0027472168 scopus 로고
    • The mercury-sensitive residue at cysteine 189 in the CHIP28 water channel
    • Preston, G.M., Jung, J.S., Guggino, W.B. and Agre, P. (1993) The mercury-sensitive residue at cysteine 189 in the CHIP28 water channel. J. Biol. Chem., 268, 17-20.
    • (1993) J. Biol. Chem. , vol.268 , pp. 17-20
    • Preston, G.M.1    Jung, J.S.2    Guggino, W.B.3    Agre, P.4
  • 28
    • 0024149621 scopus 로고
    • Regulation of protein export from the endoplasmic reticulum
    • Rose, J.K. and Doms, R.W. (1988) Regulation of protein export from the endoplasmic reticulum. Annu. Rev. Cell Biol., 4, 257-288.
    • (1988) Annu. Rev. Cell Biol. , vol.4 , pp. 257-288
    • Rose, J.K.1    Doms, R.W.2
  • 30
    • 0032483011 scopus 로고    scopus 로고
    • Defective proximal tubular fluid reabsorption in transgenic aquaporin-1 null mice
    • Schnermann, J., Chou, H.-L., Ma, T., Traynor, T. and Knepper, M.A. (1998) Defective proximal tubular fluid reabsorption in transgenic aquaporin-1 null mice. Proc. Natl Acad. Sci. USA, 95, 9660-9664.
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 9660-9664
    • Schnermann, J.1    Chou, H.-L.2    Ma, T.3    Traynor, T.4    Knepper, M.A.5
  • 31
    • 0030605859 scopus 로고    scopus 로고
    • A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II
    • Seppen, J., Steenken, E., Lindhout, D., Bosma, P.J. and Elferink, R.P. (1996) A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II. FEBS Lett., 390, 294-298.
    • (1996) FEBS Lett. , vol.390 , pp. 294-298
    • Seppen, J.1    Steenken, E.2    Lindhout, D.3    Bosma, P.J.4    Elferink, R.P.5
  • 32
    • 0030031158 scopus 로고    scopus 로고
    • Mutations in the founder of the MIP gene family underlie cataract development in the mouse
    • Shiels, A. and Bassnett, S. (1996) Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nature Genet., 12, 212-215.
    • (1996) Nature Genet. , vol.12 , pp. 212-215
    • Shiels, A.1    Bassnett, S.2
  • 33
    • 0025922827 scopus 로고
    • r 28,000 transmembrane protein exists as a multisubunit oligomer similar to channel proteins
    • r 28,000 transmembrane protein exists as a multisubunit oligomer similar to channel proteins. J. Biol. Chem., 266, 6407-6415.
    • (1991) J. Biol. Chem. , vol.266 , pp. 6407-6415
    • Smith, B.L.1    Agre, P.2
  • 34
    • 0032524048 scopus 로고    scopus 로고
    • Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones
    • Tamarappoo, B.K. and Verkman, A.S. (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
  • 35
    • 0028906029 scopus 로고
    • Folding and oligomerization of influenza hemagglutinin in the ER and the intermediate compartment
    • Tatu, U., Hammond, C. and Helenius, A. (1995) Folding and oligomerization of influenza hemagglutinin in the ER and the intermediate compartment. EMBO J., 14, 1340-1348.
    • (1995) EMBO J. , vol.14 , pp. 1340-1348
    • Tatu, U.1    Hammond, C.2    Helenius, A.3
  • 37
    • 0030606298 scopus 로고    scopus 로고
    • Regions responsible for the assembly of inwardly rectifying potassium channels
    • Tinker, A., Jan, Y.N. and Jan, L.Y. (1996) Regions responsible for the assembly of inwardly rectifying potassium channels. Cell, 87, 857-868.
    • (1996) Cell , vol.87 , pp. 857-868
    • Tinker, A.1    Jan, Y.N.2    Jan, L.Y.3
  • 38
    • 0026935109 scopus 로고
    • Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus
    • van den Ouweland, A.M., Dreesen, J.C., Verdijk, M.A. and Knoers, N.V.A.M. (1992) Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nature Genet., 2, 99-102.
    • (1992) Nature Genet. , vol.2 , pp. 99-102
    • Van Den Ouweland, A.M.1    Dreesen, J.C.2    Verdijk, M.A.3    Knoers, N.V.A.M.4
  • 40
    • 0032190017 scopus 로고    scopus 로고
    • Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia
    • Verkarre, V. et al. (1998) Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J. Clin. Invest., 102, 1286-1291.
    • (1998) J. Clin. Invest. , vol.102 , pp. 1286-1291
    • Verkarre, V.1
  • 41
    • 0028815298 scopus 로고
    • Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
    • Vikkula, M. et al. (1995) Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell, 80, 431-437.
    • (1995) Cell , vol.80 , pp. 431-437
    • Vikkula, M.1


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