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Volumn 24, Issue 4 I, 1996, Pages 952-958

An international symposium on Wilson's and Menkes' diseases

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; COPPER;

EID: 0029811526     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1053/jhep.1996.v24.ajhep0240952     Document Type: Conference Paper
Times cited : (32)

References (49)
  • 2
    • 0025892297 scopus 로고
    • Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis: A model of Wilson's disease
    • Li Y, Togashi Y, Sato S, Emoto T, Kang JOH, Takeichi N, Kobayashi H, et al. Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis: a model of Wilson's disease. J Clin Invest 1991;87:1858-1861.
    • (1991) J Clin Invest , vol.87 , pp. 1858-1861
    • Li, Y.1    Togashi, Y.2    Sato, S.3    Emoto, T.4    Kang, J.O.H.5    Takeichi, N.6    Kobayashi, H.7
  • 3
    • 0028001088 scopus 로고
    • The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene
    • Wu J, Forbes JR, Chen HS, Cox DW. The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. Nat Genet 1994;7:541-545.
    • (1994) Nat Genet , vol.7 , pp. 541-545
    • Wu, J.1    Forbes, J.R.2    Chen, H.S.3    Cox, D.W.4
  • 4
    • 0020569082 scopus 로고
    • Toxic milk, a new mutation affecting copper metabolism in the mouse
    • Rauch H. Toxic milk, a new mutation affecting copper metabolism in the mouse. J Hered 1983;74:141-144.
    • (1983) J Hered , vol.74 , pp. 141-144
    • Rauch, H.1
  • 5
    • 0027993110 scopus 로고
    • Synergistic liver toxicity of copper and retrorsine in the rat
    • Morris P, O'Neill D, Tanner S. Synergistic liver toxicity of copper and retrorsine in the rat. J Hepatol 1994;21:735-742.
    • (1994) J Hepatol , vol.21 , pp. 735-742
    • Morris, P.1    O'Neill, D.2    Tanner, S.3
  • 6
    • 0028157257 scopus 로고
    • Low vitamin E content in plasma of patients with alcoholic liver disease, hemochromatosis and Wilson's disease
    • von Herbay A, de Groot H, Hegi U, Stremmel W, Strohmeyer G, Sies H. Low vitamin E content in plasma of patients with alcoholic liver disease, hemochromatosis and Wilson's disease. J Hepatol 1994;20:41-46.
    • (1994) J Hepatol , vol.20 , pp. 41-46
    • Von Herbay, A.1    De Groot, H.2    Hegi, U.3    Stremmel, W.4    Strohmeyer, G.5    Sies, H.6
  • 7
    • 0025088859 scopus 로고
    • Oxidant injury to hepatic mitochondrial lipids in rats with dietary copper overload. Modification by vitamin E deficiency
    • Sokol RJ, Devereaux M, Mierau GW, Hambidge KM, Shikes RH. Oxidant injury to hepatic mitochondrial lipids in rats with dietary copper overload. Modification by vitamin E deficiency. Gastroenterology 1990;99:1061-1071.
    • (1990) Gastroenterology , vol.99 , pp. 1061-1071
    • Sokol, R.J.1    Devereaux, M.2    Mierau, G.W.3    Hambidge, K.M.4    Shikes, R.H.5
  • 9
    • 0027943858 scopus 로고
    • Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis
    • Sokol RJ, Twedt D, McKim JM Jr, Devereaux MW, Karrer FM, Kam I, von Steigman G, et al. Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis. Gastroenterology 1994;107:1788-1798.
    • (1994) Gastroenterology , vol.107 , pp. 1788-1798
    • Sokol, R.J.1    Twedt, D.2    McKim Jr., J.M.3    Devereaux, M.W.4    Karrer, F.M.5    Kam, I.6    Von Steigman, G.7
  • 10
    • 0027177530 scopus 로고
    • Abnormal hepatic mitochondrial respiration and cytochrome oxidase activity in rats with long-term copper overload
    • Sokol RJ, Devereaux MW, O'Brien K, Khandawala RA, Loehr JP. Abnormal hepatic mitochondrial respiration and cytochrome oxidase activity in rats with long-term copper overload. Gastroenterology 1993;105:178-187.
    • (1993) Gastroenterology , vol.105 , pp. 178-187
    • Sokol, R.J.1    Devereaux, M.W.2    O'Brien, K.3    Khandawala, R.A.4    Loehr, J.P.5
  • 11
    • 0028845519 scopus 로고
    • An array of mitochondrial alterations in the hepatocytes of Long-Evans Cinnamon rats
    • Sternlieb I, Quintana N, Volenberg I, Schilsky ML. An array of mitochondrial alterations in the hepatocytes of Long-Evans Cinnamon rats. HEPATOLOGY 1995;22:1782-1787.
    • (1995) Hepatology , vol.22 , pp. 1782-1787
    • Sternlieb, I.1    Quintana, N.2    Volenberg, I.3    Schilsky, M.L.4
  • 12
    • 0030026203 scopus 로고    scopus 로고
    • Alpha-tocopherol ameliorates oxidant injury in isolated copper-overloaded rat hepatocytes
    • Sokol RJ, McKim JM Jr, Devereaux MW. Alpha-tocopherol ameliorates oxidant injury in isolated copper-overloaded rat hepatocytes. Ped Res 1996; 39:259-263.
    • (1996) Ped Res , vol.39 , pp. 259-263
    • Sokol, R.J.1    McKim Jr., J.M.2    Devereaux, M.W.3
  • 13
    • 0000852301 scopus 로고
    • Deficiency of ceruloplasmin in patients with hepatolenticlar degeneration (Wilson's disease)
    • Scheinberg IH, Gitlin D. Deficiency of ceruloplasmin in patients with hepatolenticlar degeneration (Wilson's disease). Science 1952;116:484-485.
    • (1952) Science , vol.116 , pp. 484-485
    • Scheinberg, I.H.1    Gitlin, D.2
  • 17
  • 18
    • 0027452091 scopus 로고
    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    • Bull PC, Thomas GR, Mommens JM, Forbes JR, Cox D. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993;5:327-337.
    • (1993) Nat Genet , vol.5 , pp. 327-337
    • Bull, P.C.1    Thomas, G.R.2    Mommens, J.M.3    Forbes, J.R.4    Cox, D.5
  • 19
    • 0027431996 scopus 로고
    • Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
    • Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993;197:271-277.
    • (1993) Biochem Biophys Res Commun , vol.197 , pp. 271-277
    • Yamaguchi, Y.1    Heiny, M.E.2    Gitlin, J.D.3
  • 22
    • 0028927312 scopus 로고
    • Increased manganese concentrations in pallidum of cirrhotic patients
    • Pomier-Layrargues G, Spahr L, Butterworth RF. Increased manganese concentrations in pallidum of cirrhotic patients. Lancet 1995;345:735.
    • (1995) Lancet , vol.345 , pp. 735
    • Pomier-Layrargues, G.1    Spahr, L.2    Butterworth, R.F.3
  • 23
    • 49749198017 scopus 로고
    • Wilson's disease. New oral therapy
    • Walshe JM. Wilson's disease. New oral therapy. Lancet 1956;I:25-26.
    • (1956) Lancet , vol.1 , pp. 25-26
    • Walshe, J.M.1
  • 24
    • 0014693218 scopus 로고
    • The management of penicillamine nephropathy in Wilson's disease
    • Walshe JM. The management of penicillamine nephropathy in Wilson's disease. Lancet 1969;II:1401-1402.
    • (1969) Lancet , vol.2 , pp. 1401-1402
    • Walshe, J.M.1
  • 25
    • 0003029225 scopus 로고
    • 4) as an 'anti-copper' agent in man
    • Scheinberg IH, Walshe JM, eds. Manchester: Manchester University Press
    • 4) as an 'anti-copper' agent in man. In: Scheinberg IH, Walshe JM, eds. Orphan disease, orphan drugs. Manchester: Manchester University Press, 1986:76-85.
    • (1986) Orphan Disease, Orphan Drugs , pp. 76-85
    • Walshe, J.M.1
  • 27
    • 78651124591 scopus 로고
    • A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration
    • Menkes JH, Alter M, Steigleder GK, Weakley DR, Sung JH. A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 1962;29:764-779.
    • (1962) Pediatrics , vol.29 , pp. 764-779
    • Menkes, J.H.1    Alter, M.2    Steigleder, G.K.3    Weakley, D.R.4    Sung, J.H.5
  • 28
    • 0015384074 scopus 로고
    • Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects
    • Danks DM, Campbell PE, Stevens BJ, Mayne V, Cartwright E. Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics 1972;50:188-201.
    • (1972) Pediatrics , vol.50 , pp. 188-201
    • Danks, D.M.1    Campbell, P.E.2    Stevens, B.J.3    Mayne, V.4    Cartwright, E.5
  • 29
    • 0024591305 scopus 로고
    • Menkes' disease: A disorder of zinc metabolism
    • Scheinberg IH, Collins JC. Menkes' disease: a disorder of zinc metabolism. Lancet 1989;I:619.
    • (1989) Lancet , vol.1 , pp. 619
    • Scheinberg, I.H.1    Collins, J.C.2
  • 30
    • 16044367622 scopus 로고
    • Development of copper-histidine treatment for Menkes disease
    • Sarkar B, ed. New York: Marcel Dekker
    • Sarkar B. Development of copper-histidine treatment for Menkes disease. In: Sarkar B, ed. Genetic response to metals. New York: Marcel Dekker, 1995:305-321.
    • (1995) Genetic Response to Metals , pp. 305-321
    • Sarkar, B.1
  • 31
    • 0029062630 scopus 로고
    • Characterization of the exon structure of the Menkes disease gene using vectorette PCR
    • Tümer Z, Vural B, Tonnesen T, Chelly J, Monaco AP, Horn N. Characterization of the exon structure of the Menkes disease gene using vectorette PCR. Genomics 1995;26:437-442.
    • (1995) Genomics , vol.26 , pp. 437-442
    • Tümer, Z.1    Vural, B.2    Tonnesen, T.3    Chelly, J.4    Monaco, A.P.5    Horn, N.6
  • 33
    • 0028040512 scopus 로고
    • Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase-genomic organization, alternative splicing, and structure, function predictions
    • Petrukhin K, Lutsenko S, Chernov I, Ross B, Kaplan J, Gilliam TC. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase-genomic organization, alternative splicing, and structure, function predictions. Hum Mol Genet 1994;3:1647-1656.
    • (1994) Hum Mol Genet , vol.3 , pp. 1647-1656
    • Petrukhin, K.1    Lutsenko, S.2    Chernov, I.3    Ross, B.4    Kaplan, J.5    Gilliam, T.C.6
  • 34
    • 0028017998 scopus 로고
    • Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
    • Kaler S, Gallo L, Proud V, Percy A, Mark Y, Segal N, Goldstein D, et al. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet 1994;8:195-202.
    • (1994) Nat Genet , vol.8 , pp. 195-202
    • Kaler, S.1    Gallo, L.2    Proud, V.3    Percy, A.4    Mark, Y.5    Segal, N.6    Goldstein, D.7
  • 35
    • 0000386450 scopus 로고
    • Disorders of copper transport
    • Scriver C, Beaudet A, Sly W, Valle D, eds. New York: McGraw Hill
    • Danks D. Disorders of copper transport. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The metabolic and molecular basis of inherited disease. New York: McGraw Hill, 1995:2211-2235.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 2211-2235
    • Danks, D.1
  • 38
    • 0027446365 scopus 로고
    • Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
    • Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 1993;3:7-13.
    • (1993) Nat Genet , vol.3 , pp. 7-13
    • Vulpe, C.1    Levinson, B.2    Whitney, S.3    Packman, S.4    Gitschier, J.5
  • 40
    • 0028957864 scopus 로고
    • Similar splicing mutations of the Menkes/motled copper transporting ATPase in occipital horn syndorme and the blotchy mouse
    • Das S, Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S. Similar splicing mutations of the Menkes/motled copper transporting ATPase in occipital horn syndorme and the blotchy mouse. Am J Hum Genet 1995; 56:570-576.
    • (1995) Am J Hum Genet , vol.56 , pp. 570-576
    • Das, S.1    Levinson, B.2    Vulpe, C.3    Whitney, S.4    Gitschier, J.5    Packman, S.6
  • 41
    • 0018897589 scopus 로고
    • X-linked cutis laxa: Defective cross-link formation in collagen due to decreased lysyl oxidase activity
    • Byers P, Siegel R, Holbrook K, Naryanan A, Bornstein P, Hall J. X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. N Engl J Med 1980;303:61-65.
    • (1980) N Engl J Med , vol.303 , pp. 61-65
    • Byers, P.1    Siegel, R.2    Holbrook, K.3    Naryanan, A.4    Bornstein, P.5    Hall, J.6
  • 42
    • 0019219241 scopus 로고
    • Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes syndrome
    • Royce P, Camakaris J, Danks D. Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes syndrome. Biochem J 1980;192: 579-586.
    • (1980) Biochem J , vol.192 , pp. 579-586
    • Royce, P.1    Camakaris, J.2    Danks, D.3
  • 43
    • 0027337008 scopus 로고
    • Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts
    • Gacheru S, McGee C, Uriu-Hare J, Kosonen T, Packman S, Tinker D, Krawetz S, et al. Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts. Arch Biochem Biophys 1993;301:325-329.
    • (1993) Arch Biochem Biophys , vol.301 , pp. 325-329
    • Gacheru, S.1    McGee, C.2    Uriu-Hare, J.3    Kosonen, T.4    Packman, S.5    Tinker, D.6    Krawetz, S.7
  • 44
    • 0029134884 scopus 로고
    • Cellular copper transport
    • Vulpe C, Packman S. Cellular copper transport. Annu Rev Nutr 1995;15: 293-322.
    • (1995) Annu Rev Nutr , vol.15 , pp. 293-322
    • Vulpe, C.1    Packman, S.2
  • 45
    • 0004984491 scopus 로고
    • Variability in clinical expression of an X-linked copper disturbance, Menkes disease
    • Sarkar B, ed.
    • Horn N, Tonneson T, Tumer Z. Variability in clinical expression of an X-linked copper disturbance, Menkes disease. In: Sarkar B, ed. Genetic response to metals. 1995;285-303.
    • (1995) Genetic Response to Metals , pp. 285-303
    • Horn, N.1    Tonneson, T.2    Tumer, Z.3
  • 47
    • 0028122983 scopus 로고
    • Is non-Indian childhood cirrhosis caused by excess dietary copper?
    • Scheinberg IH, Sternlieb I. Is non-Indian childhood cirrhosis caused by excess dietary copper? Lancet 1994;344:1002-1004.
    • (1994) Lancet , vol.344 , pp. 1002-1004
    • Scheinberg, I.H.1    Sternlieb, I.2
  • 49
    • 0029983769 scopus 로고    scopus 로고
    • Endemic Tyrolean infantile cirrhosis: An ecogenetic disorder
    • Müller T, Feichtinger H, Berger H, Müller W. Endemic Tyrolean infantile cirrhosis: an ecogenetic disorder. Lancet 1996;347:877-880.
    • (1996) Lancet , vol.347 , pp. 877-880
    • Müller, T.1    Feichtinger, H.2    Berger, H.3    Müller, W.4


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