메뉴 건너뛰기




Volumn 276, Issue 2 39-2, 1999, Pages

Genetic disorders of membrane transport IV. Wilson's disease and Menkes disease

Author keywords

Adenosine triphosphatase; Menkes disease; Wilson's disease

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COPPER;

EID: 0032932229     PISSN: 01931857     EISSN: None     Source Type: Journal    
DOI: 10.1152/ajpgi.1999.276.2.g311     Document Type: Review
Times cited : (109)

References (24)
  • 1
    • 0000471415 scopus 로고    scopus 로고
    • The disorders of copper transport
    • edited by C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle. New York: McGraw-Hill. In press
    • Culotta, V. C., and J. D. Gitlin. The disorders of copper transport. In: The Metabolic and Molecular Basis of Inherited Disease, edited by C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle. New York: McGraw-Hill. In press.
    • The Metabolic and Molecular Basis of Inherited Disease
    • Culotta, V.C.1    Gitlin, J.D.2
  • 2
    • 0031455381 scopus 로고    scopus 로고
    • Expression, purification, and metal binding properties of the N-terminal domain from the Wilson disease putative copper-transporting ATPase (ATP7B)
    • DiDonato, M., S. Narindrasorasak, J. R. Forbes, D. W. Cox, and B. Sarkar. Expression, purification, and metal binding properties of the N-terminal domain from the Wilson disease putative copper-transporting ATPase (ATP7B). J. Biol. Chem. 272: 33279-33282, 1997.
    • (1997) J. Biol. Chem. , vol.272 , pp. 33279-33282
    • DiDonato, M.1    Narindrasorasak, S.2    Forbes, J.R.3    Cox, D.W.4    Sarkar, B.5
  • 3
    • 0031055871 scopus 로고    scopus 로고
    • Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network
    • Dierick, H. A., A. N. Adam, J. F. Escara-Wilke, and T. W. Glover. Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network. Hum. Mol. Genet. 6: 409-416, 1997.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 409-416
    • Dierick, H.A.1    Adam, A.N.2    Escara-Wilke, J.F.3    Glover, T.W.4
  • 6
    • 0031974775 scopus 로고    scopus 로고
    • Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase
    • Gitschier, J., B. Moffat, D. Reilly, W. I. Wood, and W. J. Fairbrother. Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase. Nat. Struct. Biol. 5: 47-54, 1998.
    • (1998) Nat. Struct. Biol. , vol.5 , pp. 47-54
    • Gitschier, J.1    Moffat, B.2    Reilly, D.3    Wood, W.I.4    Fairbrother, W.J.5
  • 7
    • 0031916833 scopus 로고    scopus 로고
    • HAH1 is a copper-binding protein with distinct amino acid residues mediating copper homeostasis and antioxidant defense
    • Hung, I. H., R. L. Casareno, G. Labesse, F. S. Mathews, and J. D. Gitlin. HAH1 is a copper-binding protein with distinct amino acid residues mediating copper homeostasis and antioxidant defense. J. Biol. Chem. 273: 1749-1754, 1998.
    • (1998) J. Biol. Chem. , vol.273 , pp. 1749-1754
    • Hung, I.H.1    Casareno, R.L.2    Labesse, G.3    Mathews, F.S.4    Gitlin, J.D.5
  • 8
    • 0030803730 scopus 로고    scopus 로고
    • Biochemical characterization of the Wilson disease protein and functional expression in the yeast saccharomyces cerevisiae
    • Hung, I. H., M. Suzuki, Y. Yamaguchi, D. S. Yuan, R. D. Klausner, and J. D. Gitlin. Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae. J. Biol. Chem. 272: 21461-21466, 1997.
    • (1997) J. Biol. Chem. , vol.272 , pp. 21461-21466
    • Hung, I.H.1    Suzuki, M.2    Yamaguchi, Y.3    Yuan, D.S.4    Klausner, R.D.5    Gitlin, J.D.6
  • 9
    • 0030898098 scopus 로고    scopus 로고
    • Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis
    • Klomp, L. W. J., S.-J. Lin, D. S. Yuan, R. D. Klausner, V. C. Culotta, and J. D. Gitlin. Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis. J. Biol. Chem. 272: 9221-9226, 1997.
    • (1997) J. Biol. Chem. , vol.272 , pp. 9221-9226
    • Klomp, L.W.J.1    Lin, S.-J.2    Yuan, D.S.3    Klausner, R.D.4    Culotta, V.C.5    Gitlin, J.D.6
  • 10
    • 0031829339 scopus 로고    scopus 로고
    • Functional analysis and intracellular localization of the human Menkes protein (MNK) stably expressed from cDNA construct in Chinese hamster ovary cells (CHO-K1)
    • LaFontaine, S., S. D. Firth, P. J. Lockhart, H. Brooks, R. G. Parton, J. Camakaris, and J. F. B. Mercer. Functional analysis and intracellular localization of the human Menkes protein (MNK) stably expressed from cDNA construct in Chinese hamster ovary cells (CHO-K1). Hum. Mol. Genet. 7: 1293-1300, 1998.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1293-1300
    • LaFontaine, S.1    Firth, S.D.2    Lockhart, P.J.3    Brooks, H.4    Parton, R.G.5    Camakaris, J.6    Mercer, J.F.B.7
  • 11
    • 0029039920 scopus 로고
    • The ATX1 gene of saccharomyces cerevisiae encodes a small metal homeostasis factor that protects cells against reactive oxygen toxicity
    • Lin, S. J., and V. C. Culotta. The ATX1 gene of Saccharomyces cerevisiae encodes a small metal homeostasis factor that protects cells against reactive oxygen toxicity. Proc. Natl. Acad. Sci. USA 92: 3784-3788, 1995.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 3784-3788
    • Lin, S.J.1    Culotta, V.C.2
  • 12
    • 0030910597 scopus 로고    scopus 로고
    • A role for the Saccharomyces cerevisiae ATX1 gene in copper trafficking and iron transport
    • Lin, S.-J., R. A. Pufahl, A. Dancis, T. V. O'Halloran, and V. C. Culotta. A role for the Saccharomyces cerevisiae ATX1 gene in copper trafficking and iron transport. J. Biol. Chem. 272: 9215-9220, 1997.
    • (1997) J. Biol. Chem. , vol.272 , pp. 9215-9220
    • Lin, S.-J.1    Pufahl, R.A.2    Dancis, A.3    O'Halloran, T.V.4    Culotta, V.C.5
  • 13
    • 0030839796 scopus 로고    scopus 로고
    • N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat
    • Lutsenko, S., K. Petrukhin, M. J. Cooper, C. T. Gilliam, and J. H. Kaplan. N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat. J. Biol. Chem. 272: 18939-18944, 1997.
    • (1997) J. Biol. Chem. , vol.272 , pp. 18939-18944
    • Lutsenko, S.1    Petrukhin, K.2    Cooper, M.J.3    Gilliam, C.T.4    Kaplan, J.H.5
  • 14
    • 0032488829 scopus 로고    scopus 로고
    • Functional expression of the Menkes disease protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases
    • Payne, A. S., and J. D. Gitlin. Functional expression of the Menkes disease protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases. J. Biol. Chem. 273: 3765-3770, 1998.
    • (1998) J. Biol. Chem. , vol.273 , pp. 3765-3770
    • Payne, A.S.1    Gitlin, J.D.2
  • 15
    • 0032167856 scopus 로고    scopus 로고
    • Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation
    • Payne, A. S., E. J. Kelly, and J. D. Gitlin. Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. Proc. Natl. Acad. Sci. USA 95: 10854-10859, 1998.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 10854-10859
    • Payne, A.S.1    Kelly, E.J.2    Gitlin, J.D.3
  • 16
    • 0031730641 scopus 로고    scopus 로고
    • A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network
    • Petris, M. J., J. Camakaris, M. Greenough, S. LaFontaine, and J. F. B. Mercer. A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network. Hum. Mol. Genet. 1: 2063-2071, 1998.
    • (1998) Hum. Mol. Genet. , vol.1 , pp. 2063-2071
    • Petris, M.J.1    Camakaris, J.2    Greenough, M.3    LaFontaine, S.4    Mercer, J.F.B.5
  • 17
    • 0029909937 scopus 로고    scopus 로고
    • Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: A novel mechanism of regulated trafficking
    • Petris, M. J., J. F. B. Mercer, J. G. Culvenor, P. Lockhart, P. A. Gleeson, and J. Camakaris. Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking. EMBO J. 15: 6084-6095, 1996.
    • (1996) EMBO J. , vol.15 , pp. 6084-6095
    • Petris, M.J.1    Mercer, J.F.B.2    Culvenor, J.G.3    Lockhart, P.4    Gleeson, P.A.5    Camakaris, J.6
  • 19
    • 0031934417 scopus 로고    scopus 로고
    • Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the Menkes protein and produces the occipital horn syndrome
    • Qi, M., and P. H. Byers. Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the Menkes protein and produces the occipital horn syndrome. Hum. Mol. Genet. 1: 465-469, 1998.
    • (1998) Hum. Mol. Genet. , vol.1 , pp. 465-469
    • Qi, M.1    Byers, P.H.2
  • 20
    • 33748498857 scopus 로고    scopus 로고
    • Hepatocyte-specific localization, copper dependent trafficking and developmental expression of the Wilson disease protein in the liver
    • In press
    • Schaefer, M., R. G. Hopkins, M. L. Failla, and J. D. Gitlin. Hepatocyte-specific localization, copper dependent trafficking and developmental expression of the Wilson disease protein in the liver. Am. J. Physiol. In press.
    • Am. J. Physiol.
    • Schaefer, M.1    Hopkins, R.G.2    Failla, M.L.3    Gitlin, J.D.4
  • 21
    • 0028869945 scopus 로고
    • The Wilson disease gene: Spectrum of mutations and their consequences
    • Thomas, G. R., J. R. Forbes, E. A. Roberts, J. M. Walshe, and D. W. Cox. The Wilson disease gene: spectrum of mutations and their consequences. Nat. Genet. 9: 210-217, 1995.
    • (1995) Nat. Genet. , vol.9 , pp. 210-217
    • Thomas, G.R.1    Forbes, J.R.2    Roberts, E.A.3    Walshe, J.M.4    Cox, D.W.5
  • 22
    • 0030467256 scopus 로고    scopus 로고
    • Biochemical characterization and intracellular localization of the Menkes disease protein
    • Yamaguchi, Y., M. E. Heiny, M. Suzuki, and J. D. Gitlin. Biochemical characterization and intracellular localization of the Menkes disease protein. Proc. Natl. Acad. Sci. USA 93: 14030-14035, 1996.
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 14030-14035
    • Yamaguchi, Y.1    Heiny, M.E.2    Suzuki, M.3    Gitlin, J.D.4
  • 23
    • 0030820818 scopus 로고    scopus 로고
    • Restriction of copper export in saccharomyces cerevisiae to a late Golgi or post-Golgi compartment in the secretory pathway
    • Yuan, D. S., A. Dancis, and R. D. Klausner. Restriction of copper export in Saccharomyces cerevisiae to a late Golgi or post-Golgi compartment in the secretory pathway. J. Biol. Chem. 272: 25787-25793, 1997.
    • (1997) J. Biol. Chem. , vol.272 , pp. 25787-25793
    • Yuan, D.S.1    Dancis, A.2    Klausner, R.D.3
  • 24
    • 0028916909 scopus 로고
    • The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake
    • Yuan, D. S., R. Stearman, A. Dancis, T. Dunn, T. Beeler, and R. D. Klausner. The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake. Proc. Natl. Acad. Sci. USA 92: 2632-2636, 1995.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 2632-2636
    • Yuan, D.S.1    Stearman, R.2    Dancis, A.3    Dunn, T.4    Beeler, T.5    Klausner, R.D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.