SEARCH

SEARCH BY CITATION

References

  • 1
    Dijkstra M, Veld GI, van den Berg GJ, Muller M, Kuipers F, Vonk RJ. Adenosine triphosphate-dependent copper transport in isolated rat liver plasma membranes. J Clin Invest 1995; 95: 412416.
  • 2
    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: 18581861.
  • 3
    Wu J, Forbes JR, Chen HS, Cox DW. The LEG rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. Nat Genet 1994; 7: 541545.
  • 4
    Rauch H. Toxic milk, a new mutation affecting copper metabolism in the mouse. J Hered 1983; 74: 141144.
  • 5
    Morris P, O'Neill D, Tanner S. Synergistic liver toxicity of copper and retrorsine in the rat. J Hepatol 1994; 21: 735742.
  • 6
    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: 4146.
  • 7
    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: 10611071.
  • 8
    Mc Kim JM Jr, Devereaux MW, Peterson DR, Hambidge KM, Ruyle SZ, Schilsky ML, Sternlieb I. et al. Mitochondrial oxidant injury in Long Evans Cinnamon (LEG) rat liver containing high copper [Abstract]. Gastroenterology 1994; 106: 941A.
  • 9
    Sokol RJ, Twedt D, Mc Kim 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: 17881798.
  • 10
    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: 178187.
  • 11
    Sternlieb I, Quintana N, Volenberg I, Schilsky ML. An array of mitochondrial alterations in the hepatocytes of Long-Evans Cinnamon rats. Hepatology 1995; 22: 17821787.
  • 12
    Sokol RJ, Mc Kim JM Jr, Devereaux MW. Alpha-tocopherol ameliorates oxidant injury in isolated copper-overloaded rat hepatocytes. Ped Res 1996; 39: 259263.
  • 13
    Scheinberg IH, Gitlin D. Deficiency of ceruloplasmin in patients with hepatolenticlar degeneration (Wilson's disease). Science 1952; 116: 484485.
  • 14
    Logan JI, Harveyson KB, Wisdom GB, Hughes AE, Archbold GPR. Hereditary ceruloplasmin deficiency, dementia and diabetes mellitus. Q J Med 1994; 87: 663670.
  • 15
    Harris ZL, Takahashi Y, Miyajima H, Serizawa M, McGillivray RTA, Gitlin JD. Acceruloplasminemia: Molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci U S A 1995; 92: 25392543.
  • 16
    Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M, Brzustowicz LM. et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 1993; 5: 338343.
  • 17
    Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DL. et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993; 5: 344350.
  • 18
    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: 327337.
  • 19
    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: 271277.
  • 20
    Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequence. Nat Genet 1995; 9: 210217.
  • 21
    Maier-Dobersberger T, Mannhalter C, Rack S, Granditsch G, Kaserer K, Korninger L, Steindl P. et al. Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis. Gastroenterology 1995; 109: 20152018.
  • 22
    Pomier-Layrargues G, Spahr L, Butterworth RF. Increased manganese concentrations in pallidum of cirrhotic patients. Lancet 1995; 345: 735.
  • 23
    Walshe JM. Wilson's disease. New oral therapy. Lancet 1956; 1: 2526.
  • 24
    Walshe JM. The management of penicillamine nephropathy in Wilson's disease. Lancet 1969; II: 14011402.
  • 25
    Walshe JM. Tetrathiomolybdate (MoS4) as an “anti-copper” agent in man. In: ScheinbergIH, WalsheJM, eds. Orphan disease, orphan drugs. Manchester: Manchester University Press, 1986: 7685.
  • 26
    Hoogenraad TU, van den Hamer CJA, Koevoet R, de Ruyter Korver EGWM Oral zinc in Wilson's disease. Lancet 1978; II: 1262.
  • 27
    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: 764779.
  • 28
    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: 188201.
  • 29
    Scheinberg IH, Collins JC. Menkes' disease: a disorder of zinc metabolism. Lancet 1989; 1: 619.
  • 30
    Sarkar B. Development of copper-histidine treatment for Menkes disease. In: SarkarB, ed. Genetic response to metals. New York: Marcel Dekker, 1995: 305321.
  • 31
    Turner 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: 437442.
  • 32
    Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J. Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet 1994; 55: 883889.
  • 33
    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: 16471656.
  • 34
    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: 195202.
  • 35
    Danks D. Disorders of copper transport. In: ScriverC, BeaudetA, SlyW, ValleD, eds. The metabolic and molecular basis of inherited disease. New York: McGraw Hill, 1995: 22112235.
  • 36
    Chelly J, Türner Z, Tonnesen T, Petterson A, Ishikawa-Brush Y, Tommerup N, Horn N. et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 1993; 3: 1419.
  • 37
    Mercer J, Livingston J, Hall B, Paynter J, Begy C, Chandrasekharappa S, Lockhart P. et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet 1993; 3: 2025.
  • 38
    Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a coppertransporting ATPase. Nat Genet 1993; 3: 713.
  • 39
    Levinson B, Gitschier J, Vulpe C, Whitney S, Yang S, Packman S. Are X-linked cutis laxa and Menkes disease allelic? Nat Genet 1993; 3: 6.
  • 40
    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: 570576.
  • 41
    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: 6165.
  • 42
    Royce P, Camakaris J, Danks D. Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes syndrome. Biochem J 1980; 192: 579586.
  • 43
    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: 325329.
  • 44
    Vulpe C, Packman S. Cellular copper transport. Annu Rev Nutr 1995; 15: 293322.
  • 45
    Horn N, Tonneson T, Turner Z. Variability in clinical expression of an X-linked copper disturbance, Menkes disease. In: Sarkar B, ed. Genetic response to metals. 1995; 285303.
  • 46
    Tanner MS, Portmann B, Mowat AP, Williams R, Pandit AN, Mills CF, Bremner I. Increased hepatic copper concentration in Indian childhood cirrhosis. Lancet 1979; 1: 12031205.
  • 47
    Scheinberg IH, Sternlieb I. Is non-Indian childhood cirrhosis caused by excess dietary copper? Lancet 1994; 344: 10021004.
  • 48
    Horslen SP, Tanner MS, Lyon TDB, Fell GS, Lowry MF. Copper associated childhood cirrhosis. Gut 1994; 35: 14971500.
  • 49
    Milller T, Feichtinger H, Berger H, Milller W. Endemic Tyrolean infantile cirrhosis: an ecogenetic disorder. Lancet 1996; 347: 877880.