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Volumn 35, Issue 10, 1998, Pages 849-851

Fibroblast silver loading for the diagnosis of Menkes disease

Author keywords

Copper; Menkes disease; Silver

Indexed keywords

COPPER; SILVER;

EID: 0031663472     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.10.849     Document Type: Article
Times cited : (13)

References (16)
  • 1
    • 0028964642 scopus 로고
    • Menkes disease
    • Bankier A. Menkes disease. J Med Genet 1995;32:213-15.
    • (1995) J Med Genet , vol.32 , pp. 213-215
    • Bankier, A.1
  • 2
    • 0030928379 scopus 로고    scopus 로고
    • Menkes disease: Recent advances and new aspects
    • Tümer Z, Horn N. Menkes disease: recent advances and new aspects. J Med Genet 1997;34:265-74.
    • (1997) J Med Genet , vol.34 , pp. 265-274
    • Tümer, Z.1    Horn, N.2
  • 3
    • 0024318319 scopus 로고
    • Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism
    • Tønnesen T, Horn N. Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism. J Inherit Metab Dis 1989;12:207-14.
    • (1989) J Inherit Metab Dis , vol.12 , pp. 207-214
    • Tønnesen, T.1    Horn, N.2
  • 4
    • 0029134884 scopus 로고
    • Cellular copper transport
    • Vulpe CD, Packman S. Cellular copper transport. Annu Rev Nutr 1995;15:293-322.
    • (1995) Annu Rev Nutr , vol.15 , pp. 293-322
    • Vulpe, C.D.1    Packman, S.2
  • 5
    • 0031025976 scopus 로고    scopus 로고
    • Identification of point mutations in 41 unrelated patients affected with Menkes disease
    • Tümer Z, Lund C, Tolshave J, Vural B, Tønnesen T, Horn N. Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am J Hum Genet 1997;60:63-71.
    • (1997) Am J Hum Genet , vol.60 , pp. 63-71
    • Tümer, Z.1    Lund, C.2    Tolshave, J.3    Vural, B.4    Tønnesen, T.5    Horn, N.6
  • 6
    • 0028906811 scopus 로고
    • Copper and silver transport by CopB-ATPase in membrane vesicles of Enterococcus hirae
    • Solioz M, Odermatt A. Copper and silver transport by CopB-ATPase in membrane vesicles of Enterococcus hirae. J Biol Chem 1995;270:9217-21.
    • (1995) J Biol Chem , vol.270 , pp. 9217-9221
    • Solioz, M.1    Odermatt, A.2
  • 7
    • 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, Petrukhin K, Cooper MJ, Gilliam CT, Kaplan JH. 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 1997;272:18939-44.
    • (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
  • 8
    • 0028972922 scopus 로고
    • Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux
    • Camakaris J, Petris MJ, Bailey L, et al. Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux. Hum Mol Genet 1995;4:2117-23.
    • (1995) Hum Mol Genet , vol.4 , pp. 2117-2123
    • Camakaris, J.1    Petris, M.J.2    Bailey, L.3
  • 9
    • 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 MJ, Mercer JFB, Culvenor JG, Lockhart P, Gleeson PA, Camakaris J. 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 1996;15:6084-95.
    • (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
  • 10
    • 0030467256 scopus 로고    scopus 로고
    • Biochemical characterization and intracellular localization of the Menkes disease protein
    • Yamaguchi Y, Heiny ME, Suzuki M, Gitlin JD. Biochemical characterization and intracellular localization of the Menkes disease protein. Proc Natl Acad Sci USA 1996;93: 14030-5.
    • (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
  • 11
    • 0031055871 scopus 로고    scopus 로고
    • Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-golgi network
    • Dierick HA, Adam AN, Escara-Wilke JF, Glover TW. Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-golgi network. Hum Mol Genet 1997;6:409-16.
    • (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
  • 12
    • 0000386450 scopus 로고
    • Disorders of copper transport
    • Scriver JR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Danks DM. Disorders of copper transport. In: Scriver JR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1995:2211-35.
    • (1995) The Metabolic Basis of Inherited Disease , pp. 2211-2235
    • Danks, D.M.1
  • 13
    • 0027345670 scopus 로고
    • Stimulating effects of mercuric and silver ions on the Superoxide anion production in human polymorphonuclear leucocytes
    • Jansson G, Harms-Ringdahl M. Stimulating effects of mercuric and silver ions on the Superoxide anion production in human polymorphonuclear leucocytes. Free Radical Res Commun 1993;18:87-98.
    • (1993) Free Radical Res Commun , vol.18 , pp. 87-98
    • Jansson, G.1    Harms-Ringdahl, M.2
  • 16
    • 0030954683 scopus 로고    scopus 로고
    • Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease
    • Masson W, Hughes H, Papworth D, Boyd Y, Horn N. Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease. J Med Genet 1997; 34:729-32.
    • (1997) J Med Genet , vol.34 , pp. 729-732
    • Masson, W.1    Hughes, H.2    Papworth, D.3    Boyd, Y.4    Horn, N.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.