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Volumn 13, Issue 3, 2012, Pages 237-250

Inherited copper transport disorders: Biochemical mechanisms, diagnosis, and treatment

Author keywords

ATP7A; ATP7B; Disulfiram; Menkes disease; Occipital horn syndrome; Trientine; Wilson's disease; Zinc

Indexed keywords

CERULOPLASMIN; COPPER; DIETHYLDITHIOCARBAMIC ACID; DISULFIRAM; HEPHAESTIN; HISTIDINE; MENKES PROTEIN; MONOPHENOL MONOOXYGENASE; PENICILLAMINE; PROTEIN LYSINE 6 OXIDASE; TETRATHIOMOLYBDIC ACID; THIOL OXIDASE; TRIENTINE; WILSON DISEASE PROTEIN; ZINC;

EID: 84860505334     PISSN: 13892002     EISSN: 18755453     Source Type: Journal    
DOI: 10.2174/138920012799320455     Document Type: Article
Times cited : (146)

References (130)
  • 1
    • 77951136381 scopus 로고    scopus 로고
    • Influence of copper on early development: Prenatal and postnatal considerations
    • Uriu-Adams, J. Y.; Scherr, R. E.; Lanoue, L.; Keen, C. L. Influence of copper on early development: Prenatal and postnatal considerations. BioFactors, 2010, 36 2, 136-152.
    • (2010) BioFactors , vol.36 , Issue.2 , pp. 136-152
    • Uriu-Adams, J.Y.1    Scherr, R.E.2    Lanoue, L.3    Keen, C.L.4
  • 3
    • 78651124591 scopus 로고
    • A sex-linked reccesive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration
    • Menkes, J. H; Alte, M.; Steigleder, G. K.; Weakley, D. R.; Sung, J. H. A sex-linked reccesive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics, 1962, 29, 764-769.
    • (1962) Pediatrics , vol.29 , pp. 764-769
    • Menkes, J.H.1    Alte, M.2    Steigleder, G.K.3    Weakley, D.R.4    Sung, J.H.5
  • 4
    • 0015384074 scopus 로고
    • Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects
    • Danks, D. M.; Campbell, P. E.; Stevens, B. J.; 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
  • 5
    • 0016762389 scopus 로고
    • Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy - A new hereditary syndrome
    • Lazoff, S. G.; Rybak, J. J.; Parker, B. R.; Luzzatti, L. Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy - a new hereditary syndrome. Birth Defects Orig. Artic. Ser., 1975, 11 5, 71-74.
    • (1975) Birth Defects Orig. Artic. Ser. , vol.11 , Issue.5 , pp. 71-74
    • Lazoff, S.G.1    Rybak, J.J.2    Parker, B.R.3    Luzzatti, L.4
  • 6
    • 84963072124 scopus 로고
    • Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver
    • Wilson, S. A. K. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain, 1912, 34, 295-509.
    • (1912) Brain , vol.34 , pp. 295-509
    • Wilson, S.A.K.1
  • 7
    • 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
  • 11
    • 0028957864 scopus 로고
    • Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse
    • Das, S.; Levinson, B.; Vulpe, C.; Whitney, S.; Gitschier, J.; Packman, S. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am. J. Hum. Genet., 1995, 56 3, 570-576.
    • (1995) Am. J. Hum. Genet. , vol.56 , Issue.3 , pp. 570-576
    • Das, S.1    Levinson, B.2    Vulpe, C.3    Whitney, S.4    Gitschier, J.5    Packman, S.6
  • 12
    • 0027452091 scopus 로고
    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    • Bull, P. C.; Thomas, G. R.; Rommens, J. M.; Forbes, J. R.; Cox, D. W. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat. Genet., 1993, 5 4, 327-337.
    • (1993) Nat. Genet. , vol.5 , Issue.4 , pp. 327-337
    • Bull, P.C.1    Thomas, G.R.2    Rommens, J.M.3    Forbes, J.R.4    Cox, D.W.5
  • 15
    • 0027431996 scopus 로고
    • Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
    • Yamaguchi, Y.; Heiny, M. E.; Gitlin, J. D. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem. Biophys. Res. Commun., 1993, 197 1, 271-7.
    • (1993) Biochem. Biophys. Res. Commun. , vol.197 , Issue.1 , pp. 271-277
    • Yamaguchi, Y.1    Heiny, M.E.2    Gitlin, J.D.3
  • 16
    • 19944369037 scopus 로고    scopus 로고
    • Drug targets in Menkes disease-prospective developments
    • Kodama, H.; Gu, Y. H.; Mizunuma, M. Drug targets in Menkes disease-prospective developments. Expert. Opin. Ther. Targets., 2001, 5 5, 625-635.
    • (2001) Expert. Opin. Ther. Targets. , vol.5 , Issue.5 , pp. 625-635
    • Kodama, H.1    Gu, Y.H.2    Mizunuma, M.3
  • 17
    • 67849134473 scopus 로고    scopus 로고
    • Copper metabolism and inherited copper transporter disorders: Molecular mechanisms, screening, and treatment
    • Kodama, H. and Fujisawa, C. Copper metabolism and inherited copper transporter disorders: molecular mechanisms, screening, and treatment. Metallomics, 2009, 1, 42-52.
    • (2009) Metallomics , vol.1 , pp. 42-52
    • Kodama, H.1    Fujisawa, C.2
  • 18
    • 79251648024 scopus 로고    scopus 로고
    • Pathology, clinical features and treatments of congenital copper metabolic disorders - Focus on neurologic aspects
    • Kodama, H.; Fujisawa, C.; Bhadhprasit, W. Pathology, clinical features and treatments of congenital copper metabolic disorders - Focus on neurologic aspects. Brain Dev., 2011, 243-51.
    • (2011) Brain Dev. , pp. 243-251
    • Kodama, H.1    Fujisawa, C.2    Bhadhprasit, W.3
  • 20
    • 74949100486 scopus 로고    scopus 로고
    • New developments in the regulation of intestinal copper absorption
    • Van den Berghe, P. V. E.; Klomp, L. W. J. New developments in the regulation of intestinal copper absorption. Nutr. Rev., 2009, 67 11, 658-672.
    • (2009) Nutr. Rev. , vol.67 , Issue.11 , pp. 658-672
    • Van Den Berghe, P.V.E.1    Klomp, L.W.J.2
  • 21
    • 0031960875 scopus 로고    scopus 로고
    • Human whole-body copper metabolism
    • Turnlund, J. R. Human whole-body copper metabolism. Am. J. Clin. Nutr., 1998, 67(Suppl), S960-S964.
    • (1998) Am. J. Clin. Nutr. , vol.67 , Issue.SUPPL.
    • Turnlund, J.R.1
  • 22
    • 77953471147 scopus 로고    scopus 로고
    • Human copper transporters: Mechanism, role in human diseases and therapeutic potential
    • Gupta, A. and Lutsenko, S. Human copper transporters: mechanism, role in human diseases and therapeutic potential. Future Med. Chem., 2009, 1 6, 1125-1142.
    • (2009) Future Med. Chem. , vol.1 , Issue.6 , pp. 1125-1142
    • Gupta, A.1    Lutsenko, S.2
  • 23
    • 67349118440 scopus 로고    scopus 로고
    • Copper accumulation and compartmentalization in mouse fibroblast lacking metallothionein and copper chaperone, Atox1
    • Miyayama, T.; Suzuki, K. T.; Ogura, Y. Copper accumulation and compartmentalization in mouse fibroblast lacking metallothionein and copper chaperone, Atox1. Toxicol. Appl. Pharmacol., 2009, 237 2, 205-213.
    • (2009) Toxicol. Appl. Pharmacol. , vol.237 , Issue.2 , pp. 205-213
    • Miyayama, T.1    Suzuki, K.T.2    Ogura, Y.3
  • 24
    • 77953946552 scopus 로고    scopus 로고
    • Copper-transfer mechanism from the human chaperone Atox1 to a metal-binding domain of Wilson disease protein
    • Rodriguez-Granillo, A.; Crespo, A.; Estrin, D. A.; Wittung-Stafshede, P. Copper-transfer mechanism from the human chaperone Atox1 to a metal-binding domain of Wilson disease protein. J. Phys. Chem. B., 2010, 114 10, 3698-3706.
    • (2010) J. Phys. Chem. B. , vol.114 , Issue.10 , pp. 3698-3706
    • Rodriguez-Granillo, A.1    Crespo, A.2    Estrin, D.A.3    Wittung-Stafshede, P.4
  • 25
    • 33947369862 scopus 로고    scopus 로고
    • Characterization and copper binding properties of human COMMD1 (MURR1)
    • Narindrasorasak, S.; Kulkarni, P.; Deschamps, P.; She, Y. M.; Sarkar, B. Characterization and copper binding properties of human COMMD1 (MURR1). Biochem., 2007, 46 11, 3116-3128.
    • (2007) Biochem. , vol.46 , Issue.11 , pp. 3116-3128
    • Narindrasorasak, S.1    Kulkarni, P.2    Deschamps, P.3    She, Y.M.4    Sarkar, B.5
  • 26
    • 78651330534 scopus 로고    scopus 로고
    • The puzzle posed by COMMD1, a newly discovered protein binding Cu (II)
    • Sarkar, B.; Roberts, EA. The puzzle posed by COMMD1, a newly discovered protein binding Cu (II). Metallomics, 2011, 3 1, 20-27.
    • (2011) Metallomics , vol.3 , Issue.1 , pp. 20-27
    • Sarkar, B.1    Roberts, E.A.2
  • 27
    • 0037081771 scopus 로고    scopus 로고
    • Identification of a new copper metabolism gene by positional cloning in a purebred dog population
    • van De Sluis, B.; Rothuizen, J.; Pearson, P. L.; van Oost, B. A.; Wijmenga, C. Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum. Mol. Genet., 2002, 11 2, 165-73.
    • (2002) Hum. Mol. Genet. , vol.11 , Issue.2 , pp. 165-173
    • Van De Sluis, B.1    Rothuizen, J.2    Pearson, P.L.3    Oost, B.A.4    Wijmenga, C.5
  • 28
    • 0142149219 scopus 로고    scopus 로고
    • The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein
    • Tao, T. Y.; Liu, F.; Klomp, L.; Wijmenga, C.; Gitlin, J. D. The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein. J. Biol. Chem., 2003, 278 43, 41593-41596.
    • (2003) J. Biol. Chem. , vol.278 , Issue.43 , pp. 41593-41596
    • Tao, T.Y.1    Liu, F.2    Klomp, L.3    Wijmenga, C.4    Gitlin, J.D.5
  • 29
    • 77954477140 scopus 로고    scopus 로고
    • Roles of COMM-domain-containing 1 in stability and recruitment of the copper-transporting ATPase in a mouse hepatoma cell line
    • Miyayama, T.; Hiraoka, D.; Kawaji, F.; Nakamura, E.; Suzuki, N.; Ogra, Y. Roles of COMM-domain-containing 1 in stability and recruitment of the copper-transporting ATPase in a mouse hepatoma cell line. Biochem. J., 2010, 429 1, 53-61.
    • (2010) Biochem. J. , vol.429 , Issue.1 , pp. 53-61
    • Miyayama, T.1    Hiraoka, D.2    Kawaji, F.3    Nakamura, E.4    Suzuki, N.5    Ogra, Y.6
  • 31
  • 32
    • 0031829282 scopus 로고    scopus 로고
    • Copper efflux from murine microvascular cells requires expression of the menkes disease Cu-ATPase
    • Qian, Y.; Tiffany-Castiglioni, E.; Welsh, J.; Harris, E. D. Copper efflux from murine microvascular cells requires expression of the menkes disease Cu-ATPase. J. Nutr., 1998, 128 8, 1276-1282.
    • (1998) J. Nutr. , vol.128 , Issue.8 , pp. 1276-1282
    • Qian, Y.1    Tiffany-Castiglioni, E.2    Welsh, J.3    Harris, E.D.4
  • 33
    • 34447103789 scopus 로고    scopus 로고
    • Trafficking of the copper-ATPases, ATP7A and ATP7B: Role in copper homeostasis
    • La Fontaine, S. and Mercer, J. F. Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis. Arch. Biochem. Biophys., 2007, 463 2, 149-167.
    • (2007) Arch. Biochem. Biophys. , vol.463 , Issue.2 , pp. 149-167
    • Fontaine, S.1    Mercer, J.F.2
  • 34
    • 0032471911 scopus 로고    scopus 로고
    • Functional characterization of missense mutations Wilson disease mutation or normal variant?
    • Forbes, J. R. and Cox, D. W. Functional characterization of missense mutations Wilson disease mutation or normal variant? Am. J. Hum. Genet., 1998, 63 6, 1663-1674.
    • (1998) Am. J. Hum. Genet. , vol.63 , Issue.6 , pp. 1663-1674
    • Forbes, J.R.1    Cox, D.W.2
  • 35
    • 33751079354 scopus 로고    scopus 로고
    • Functional copper transport explains neurologic sparing in occipital horn syndrome
    • Tang, J.; Robertson, S. P.; Lem, K. E.; Godwin, S. C.; Kaler, S. G. Functional copper transport explains neurologic sparing in occipital horn syndrome. Genet. Med., 2006, 8 11, 711-718.
    • (2006) Genet. Med. , vol.8 , Issue.11 , pp. 711-718
    • Tang, J.1    Robertson, S.P.2    Lem, K.E.3    Godwin, S.C.4    Kaler, S.G.5
  • 36
    • 0037059855 scopus 로고    scopus 로고
    • Functional properties of the copper transporting ATPase ATP7B (the Wilson's disease protein) expressed in insect cells
    • Tsivkovskii, R.; Eisses, J. F.; Kapian, J. H.; Lutsenko, S. Functional properties of the copper transporting ATPase ATP7B (the Wilson's disease protein) expressed in insect cells. J. Biol. Chem., 2002, 277 2, 976-983.
    • (2002) J. Biol. Chem. , vol.277 , Issue.2 , pp. 976-983
    • Tsivkovskii, R.1    Eisses, J.F.2    Kapian, J.H.3    Lutsenko, S.4
  • 37
    • 19944380178 scopus 로고    scopus 로고
    • A survey of Japanese patients with Menkes disease from 1990 to 2003: Incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis
    • Gu, Y. H.; Kodama, H.; Shiga, K.; Nakata, S.; Yanagawa, Y.; Ozawa, H. A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis. J. Inherit. Metab. Dis., 2005, 28 4, 473-478.
    • (2005) J. Inherit. Metab. Dis. , vol.28 , Issue.4 , pp. 473-478
    • Gu, Y.H.1    Kodama, H.2    Shiga, K.3    Nakata, S.4    Yanagawa, Y.5    Ozawa, H.6
  • 38
    • 0035869131 scopus 로고    scopus 로고
    • ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome
    • Gu, Y. H.; Kodama, H.; Murata, Y.; Mochizuki, D.; Yanagawa, Y.; Ushijima, H. ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. Am. J. Med. Genet., 2001, 99 3, 217-222.
    • (2001) Am. J. Med. Genet. , vol.99 , Issue.3 , pp. 217-222
    • Gu, Y.H.1    Kodama, H.2    Murata, Y.3    Mochizuki, D.4    Yanagawa, Y.5    Ushijima, H.6
  • 39
    • 31644442107 scopus 로고    scopus 로고
    • Gene defects and clinical aspects in Menkes disease and occipital horn syndrome
    • Massaro E ed, Human Press
    • Kodama, H. Gene defects and clinical aspects in Menkes disease and occipital horn syndrome. In: Massaro E ed. Handbook of Copper Pharmacology. Totowa (U. S. A.); Human Press, 2002, 319-338.
    • (2002) Handbook of Copper Pharmacology. Totowa (U. S. A.) , pp. 319-338
    • Kodama, H.1
  • 40
    • 69749106065 scopus 로고    scopus 로고
    • Molecular diagnosis of Menkes disease: Genotype-phenotype correlation
    • Møller, L. B.; Mogensen, M.; Horn, N. Molecular diagnosis of Menkes disease: Genotype-phenotype correlation. Biochimie, 2009, 91 10, 1273-1277.
    • (2009) Biochimie , vol.91 , Issue.10 , pp. 1273-1277
    • Møller, L.B.1    Mogensen, M.2    Horn, N.3
  • 43
    • 0032769447 scopus 로고    scopus 로고
    • Molecular genetics and pathophysiology of Menkes disease
    • Kodama, H.; Murata, Y. Molecular genetics and pathophysiology of Menkes disease. Pediatr. Int., 1999, 41 4, 430-435.
    • (1999) Pediatr. Int. , vol.41 , Issue.4 , pp. 430-435
    • Kodama, H.1    Murata, Y.2
  • 44
    • 0027163651 scopus 로고
    • Histochemical localization of copper in the intestine and kidney of macular mice: Light and electron microscopic study
    • Kodama, H.; Abe, T.; Takama, M.; Takahashi, I.; Kodama, M.; Nishimura, M. Histochemical localization of copper in the intestine and kidney of macular mice: light and electron microscopic study. J. Histochem. Cytochem., 1993, 41 10, 1529-1535.
    • (1993) J. Histochem. Cytochem. , vol.41 , Issue.10 , pp. 1529-1535
    • Kodama, H.1    Abe, T.2    Takama, M.3    Takahashi, I.4    Kodama, M.5    Nishimura, M.6
  • 46
    • 0027236562 scopus 로고
    • Recent developments in Menkes disease
    • Kodama, H. Recent developments in Menkes disease. J. Inherit. Metab. Dis., 1993, 16 4, 791-799.
    • (1993) J. Inherit. Metab. Dis. , vol.16 , Issue.4 , pp. 791-799
    • Kodama, H.1
  • 47
    • 0031879870 scopus 로고    scopus 로고
    • Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease
    • Murata, Y.; Kodama, H.; Mori, Y.; Kobayashi, M.; Abe, T. Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease. J. Inherit. Metab. Dis., 1998, 21 3, 199-202.
    • (1998) J. Inherit. Metab. Dis. , vol.21 , Issue.3 , pp. 199-202
    • Murata, Y.1    Kodama, H.2    Mori, Y.3    Kobayashi, M.4    Abe, T.5
  • 49
    • 0037794538 scopus 로고    scopus 로고
    • Biochemical indicator for evaluation of connective tissue abnormalities in Menkes' disease
    • Kodama, H.; Sato, E.; Yanagawa, Y.; Ozawa, H.; Kozuma, T. Biochemical indicator for evaluation of connective tissue abnormalities in Menkes' disease. J. Pediatr., 2003, 142 6, 726-728.
    • (2003) J. Pediatr. , vol.142 , Issue.6 , pp. 726-728
    • Kodama, H.1    Sato, E.2    Yanagawa, Y.3    Ozawa, H.4    Kozuma, T.5
  • 50
    • 0027500119 scopus 로고
    • Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease
    • Kaler, SG.; Goldstein, DS.; Holmes, C.; Salemo, JA.; Gahl, WA. Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease. Ann. Neurol., 1993, 33 2, 171-175.
    • (1993) Ann. Neurol. , vol.33 , Issue.2 , pp. 171-175
    • Kaler, S.G.1    Goldstein, D.S.2    Holmes, C.3    Salemo, J.A.4    Gahl, W.A.5
  • 52
    • 0032783060 scopus 로고    scopus 로고
    • Clinical manifestations and treatment of Menkes disease and its variants
    • Kodama, H.; Murata, Y.; Kobayashi, M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr. Int., 1999, 41 4, 423-429.
    • (1999) Pediatr. Int. , vol.41 , Issue.4 , pp. 423-429
    • Kodama, H.1    Murata, Y.2    Kobayashi, M.3
  • 54
    • 79251640206 scopus 로고    scopus 로고
    • The symptoms and treatment of 20 patients with Menkes disease in Japan (in Japanese)
    • Ozawa, H.; Otaki, U.; Gu, Y. H.; Kodama, H. The symptoms and treatment of 20 patients with Menkes disease in Japan (in Japanese). J. Jpn. Pediatr. Soc., 2009;113(8), 1234-1237.
    • (2009) J. Jpn. Pediatr. Soc. , vol.113 , Issue.8 , pp. 1234-1237
    • Ozawa, H.1    Otaki, U.2    Gu, Y.H.3    Kodama, H.4
  • 56
    • 0034889090 scopus 로고    scopus 로고
    • Transient temporal lobe changes and a novel mutation in a patient with Menkes disease
    • Ozawa, H.; Kodama, H.; Murata, Y.; Takashima, S.; Noma, S. Transient temporal lobe changes and a novel mutation in a patient with Menkes disease. Pediatr. Int., 2001, 43 4, 437-440.
    • (2001) Pediatr. Int. , vol.43 , Issue.4 , pp. 437-440
    • Ozawa, H.1    Kodama, H.2    Murata, Y.3    Takashima, S.4    Noma, S.5
  • 58
    • 34548279406 scopus 로고    scopus 로고
    • Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome
    • Donsante, A.; Tang, J.; Godwin, S. C.; Holmes, C. S.; Goldstein, D. S.; Bassuk, A.; Kaler, S. G. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. J. Med. Genet., 2007, 44 8, 492-497.
    • (2007) J. Med. Genet. , vol.44 , Issue.8 , pp. 492-497
    • Donsante, A.1    Tang, J.2    Godwin, S.C.3    Holmes, C.S.4    Goldstein, D.S.5    Bassuk, A.6    Kaler, S.G.7
  • 59
    • 13844298755 scopus 로고    scopus 로고
    • Screening for Menkes disease using the urine HVA/VMA ratio
    • Matsuo, M.; Tasaki, R.; Kodama, H.; Hamasaki, Y. Screening for Menkes disease using the urine HVA/VMA ratio. J. Inherit. Metab. Dis., 2005, 28 1, 89-93.
    • (2005) J. Inherit. Metab. Dis. , vol.28 , Issue.1 , pp. 89-93
    • Matsuo, M.1    Tasaki, R.2    Kodama, H.3    Hamasaki, Y.4
  • 61
    • 0001139290 scopus 로고    scopus 로고
    • Treatment of Wilson and Menkes disease
    • Sarkar, B. Treatment of Wilson and Menkes disease. Chem. Rev., 1999, 99 9, 2535-2544.
    • (1999) Chem. Rev. , vol.99 , Issue.9 , pp. 2535-2544
    • Sarkar, B.1
  • 62
    • 0027363908 scopus 로고
    • Copper-histidine therapy for Menkes disease
    • Sarkar, B.; Lingertat-Walsh, K.; Clarke, J. T. Copper-histidine therapy for Menkes disease. J. Pediatr., 1993, 123 5, 828-830.
    • (1993) J. Pediatr. , vol.123 , Issue.5 , pp. 828-830
    • Sarkar, B.1    Lingertat-Walsh, K.2    Clarke, J.T.3
  • 64
    • 60849127540 scopus 로고    scopus 로고
    • Translation read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease
    • Kaler, S. G.; Tang, J.; Kaneski, C. R. Translation read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease. Ann. Neurol., 2009, 65 1, 108-113.
    • (2009) Ann. Neurol. , vol.65 , Issue.1 , pp. 108-113
    • Kaler, S.G.1    Tang, J.2    Kaneski, C.R.3
  • 66
    • 31644443196 scopus 로고    scopus 로고
    • Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease
    • Kodama, H.; Sato, E.; Gu, Y. H.; Shiga, K.; Fujisawa, C.; Kozuma, T. Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease. J. Inherit. Metab. Dis., 2005, 28 6, 971-978.
    • (2005) J. Inherit. Metab. Dis. , vol.28 , Issue.6 , pp. 971-978
    • Kodama, H.1    Sato, E.2    Gu, Y.H.3    Shiga, K.4    Fujisawa, C.5    Kozuma, T.6
  • 68
    • 45849096470 scopus 로고    scopus 로고
    • Diagnosis of Wilson's disease: A comprehensive review
    • Mak, C. M. and Lam, C. W. Diagnosis of Wilson's disease: a comprehensive review. Crit. Rev. Clin. Lab. Sci., 2008, 45 3, 263-290.
    • (2008) Crit. Rev. Clin. Lab. Sci. , vol.45 , Issue.3 , pp. 263-290
    • Mak, C.M.1    Lam, C.W.2
  • 69
    • 0345170773 scopus 로고    scopus 로고
    • Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease
    • Gu, Y. H.; Kodama, H.; Du, S. L.; Gu, Q. J.; Sun, H. J.; Ushijima, H. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. Clin. Genet., 2003, 64 6, 479-484.
    • (2003) Clin. Genet. , vol.64 , Issue.6 , pp. 479-484
    • Gu, Y.H.1    Kodama, H.2    Du, S.L.3    Gu, Q.J.4    Sun, H.J.5    Ushijima, H.6
  • 71
    • 28644438204 scopus 로고    scopus 로고
    • Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease
    • Gromadzka, G.; Schmidt, H. H.; Genschel, J.; Bochow, B.; Rodo, M.; Tarnacka, B.; Litwin, T.; Chabik, G.; Czlonkowska, A. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. Clin. Genet., 2005, 68 6, 524-532.
    • (2005) Clin. Genet. , vol.68 , Issue.6 , pp. 524-532
    • Gromadzka, G.1    Schmidt, H.H.2    Genschel, J.3    Bochow, B.4    Rodo, M.5    Tarnacka, B.6    Litwin, T.7    Chabik, G.8    Czlonkowska, A.9
  • 72
    • 77953809282 scopus 로고    scopus 로고
    • Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene association with liver disease
    • Barada, K.; El-Atrache, M.; El-Haji, I. I; Rida, K.; El-Hajjar, J.; Mahfoud, Z.; Usta, J. Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene association with liver disease. J. Clin. Gastroenterol., 2010, 44 6, 432-439.
    • (2010) J. Clin. Gastroenterol. , vol.44 , Issue.6 , pp. 432-439
    • Barada, K.1    El-Atrache, M.2    El-Haji, I.I.3    Rida, K.4    El-Hajjar, J.5    Mahfoud, Z.6    Usta, J.7
  • 74
    • 77954249307 scopus 로고    scopus 로고
    • A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson disease patient
    • Gupta, A.; Chattopadhyay, I.; Mukherjee, S.; Sengupta, M.; Das, S. K.; Ray, K. A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson disease patient. Behav. Brain Funct., 2010, 6 33, 1-5.
    • (2010) Behav. Brain Funct. , vol.6 , Issue.33 , pp. 1-5
    • Gupta, A.1    Chattopadhyay, I.2    Mukherjee, S.3    Sengupta, M.4    Das, S.K.5    Ray, K.6
  • 75
    • 0028001088 scopus 로고
    • The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene
    • Wu, J.; Forbes, J. R.; Chen, H. S.; Cox, D. W. The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. Nat. Genet., 1994, 7 4, 541-545.
    • (1994) Nat. Genet. , vol.7 , Issue.4 , pp. 541-545
    • Wu, J.1    Forbes, J.R.2    Chen, H.S.3    Cox, D.W.4
  • 76
    • 0023740231 scopus 로고
    • High susceptibility to hepatocellular carcinoma development in LEC rats with hereditary hepatitis
    • Masuda, R.; Yoshida, M. C.; Sasaki, M.; Dempo, K.; Mori, M. High susceptibility to hepatocellular carcinoma development in LEC rats with hereditary hepatitis. Jpn. J. Cancer Res., 1988, 79 7, 828-835.
    • (1988) Jpn. J. Cancer Res. , vol.79 , Issue.7 , pp. 828-835
    • Masuda, R.1    Yoshida, M.C.2    Sasaki, M.3    Dempo, K.4    Mori, M.5
  • 77
    • 0034811959 scopus 로고    scopus 로고
    • The Jackson toxic milk mouse as a model for copper loading
    • Coronado, V.; Nanji, M.; Cox, D. W. The Jackson toxic milk mouse as a model for copper loading. Mamm. Genome, 2001, 12 10, 793-795.
    • (2001) Mamm. Genome , vol.12 , Issue.10 , pp. 793-795
    • Coronado, V.1    Nanji, M.2    Cox, D.W.3
  • 78
    • 0037656489 scopus 로고    scopus 로고
    • Genetic defects in copper metabolism
    • Shim, H. and Harris, Z. L. Genetic defects in copper metabolism. J. Nutr., 2003, 133(5 Suppl 1), 1527S-1531S.
    • (2003) J. Nutr. , vol.133 , Issue.1-5 SUPPL.
    • Shim, H.1    Harris, Z.L.2
  • 79
    • 33748953356 scopus 로고    scopus 로고
    • Compound overload of copper and iron in patients with Wilson's disease
    • Hayashi, H.; Yano, M.; Fujita, Y.; Wakusawa, S. Compound overload of copper and iron in patients with Wilson's disease. Med. Mol. Morphol., 2006, 39 3, 121-126.
    • (2006) Med. Mol. Morphol. , vol.39 , Issue.3 , pp. 121-126
    • Hayashi, H.1    Yano, M.2    Fujita, Y.3    Wakusawa, S.4
  • 80
    • 77952968307 scopus 로고    scopus 로고
    • Evidence for a critical role of ceruloplasmin oxidase activity in iron metabolism of Wilson disease gene knockout mice
    • Merle, U.; Tuma, S.; Herrmann, T.; Muntean, V.; Volkmann, M.; Gehrke, S. G.; Stremmel, W. Evidence for a critical role of ceruloplasmin oxidase activity in iron metabolism of Wilson disease gene knockout mice. J. Gastroenterol. Hepatol., 2010, 25 6, 1144-1150.
    • (2010) J. Gastroenterol. Hepatol. , vol.25 , Issue.6 , pp. 1144-1150
    • Merle, U.1    Tuma, S.2    Herrmann, T.3    Muntean, V.4    Volkmann, M.5    Gehrke, S.G.6    Stremmel, W.7
  • 81
    • 77949903006 scopus 로고    scopus 로고
    • Neurologic Wilson's disease
    • Lorincz, M. T. Neurologic Wilson's disease. Ann. N. Y. Acad. Sci., 2010, 1184, 173-187.
    • (2010) Ann. N. Y. Acad. Sci. , vol.1184 , pp. 173-187
    • Lorincz, M.T.1
  • 82
    • 77349085279 scopus 로고    scopus 로고
    • Spectrum of epilepsy in Wilson's disease with electroencephalographic, MR imaging and pathological correlates
    • Prashanth, L. K.; Sinha, S.; Taly, A. B.; Mahadevan, A.; Vasudev, M. K.; Shankar, S. K. Spectrum of epilepsy in Wilson's disease with electroencephalographic, MR imaging and pathological correlates. J. Neurol. Sci., 2010, 291(1-2), 44-51.
    • (2010) J. Neurol. Sci. , vol.291 , Issue.1-2 , pp. 44-51
    • Prashanth, L.K.1    Sinha, S.2    Taly, A.B.3    Mahadevan, A.4    Vasudev, M.K.5    Shankar, S.K.6
  • 86
    • 78650186610 scopus 로고    scopus 로고
    • Wilson's disease: 31P and 1H MR spectroscopy and clinical correlation
    • DOI 10.1007/s00243-010-0661-1
    • Sinha, S.; Taly, A. B.; Ravishankar, S. Wilson's disease: 31P and 1H MR spectroscopy and clinical correlation. Neuroradiology. 2010, DOI 10.1007/s00243-010-0661-1.
    • (2010) Neuroradiology
    • Sinha, S.1    Taly, A.B.2    Ravishankar, S.3
  • 87
    • 78249273848 scopus 로고    scopus 로고
    • Analysis of renal impairment in children with Wilson's disease
    • Zhuang, X. H.; Mo, Y.; Jiang, X. Y.; Chen, S. M. Analysis of renal impairment in children with Wilson's disease. World J. Pediatr., 2008, 4 2, 102-105.
    • (2008) World J. Pediatr. , vol.4 , Issue.2 , pp. 102-105
    • Zhuang, X.H.1    Mo, Y.2    Jiang, X.Y.3    Chen, S.M.4
  • 88
    • 33747752509 scopus 로고    scopus 로고
    • Wilson's disease: An update
    • Das, S. K. and Ray, K. Wilson's disease: an update. Nat. Clin. Pract. Neurol., 2006, 2 9, 482-493.
    • (2006) Nat. Clin. Pract. Neurol. , vol.2 , Issue.9 , pp. 482-493
    • Das, S.K.1    Ray, K.2
  • 89
    • 46249112793 scopus 로고    scopus 로고
    • Diagnosis and treatment of Wilson disease: An update
    • Roberts, E. A. and Schilsky, M. L. Diagnosis and treatment of Wilson disease: an update. Hepatology, 2008, 47 6, 2089-2111.
    • (2008) Hepatology , vol.47 , Issue.6 , pp. 2089-2111
    • Roberts, E.A.1    Schilsky, M.L.2
  • 90
    • 0025739298 scopus 로고
    • Neurological and neuropsychiatric spectrum of Wilson's disease: A prospective study of 45 cases
    • Oder, W.; Grimm, G.; Kollegger, H.; Ferenci, P.; Schneider, B.; Deecke, L. Neurological and neuropsychiatric spectrum of Wilson's disease: a prospective study of 45 cases. J. Neurol., 1991, 238 5, 281-287.
    • (1991) J. Neurol. , vol.238 , Issue.5 , pp. 281-287
    • Oder, W.1    Grimm, G.2    Kollegger, H.3    Ferenci, P.4    Schneider, B.5    Deecke, L.6
  • 92
    • 77954144571 scopus 로고    scopus 로고
    • Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations
    • Lin, C. W.; Er, T. K.; Tsai, F. J.; Lie, T. C.; Shin, P. Y.; Chang, J. G. Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations. Clin. Chim. Acta, 2010, 411(17-18), 1223-1231.
    • (2010) Clin. Chim. Acta , vol.411 , Issue.17-18 , pp. 1223-1231
    • Lin, C.W.1    Er, T.K.2    Tsai, F.J.3    Lie, T.C.4    Shin, P.Y.5    Chang, J.G.6
  • 94
    • 20844453260 scopus 로고    scopus 로고
    • Evaluation of the scoring system for the diagnosis of Wilson's disease in children
    • Dhanwan, A. Evaluation of the scoring system for the diagnosis of Wilson's disease in children. Liver Int., 2005, 25 3, 680-681.
    • (2005) Liver Int. , vol.25 , Issue.3 , pp. 680-681
    • Dhanwan, A.1
  • 96
    • 0036085919 scopus 로고    scopus 로고
    • Mass screening for Wilson's disease by measuring urinary holoceruloplasmin
    • Owada, M.; Suzuki, K.; Fukushi, M.; Yamauchi, K.; Kitagawa, T. Mass screening for Wilson's disease by measuring urinary holoceruloplasmin. J. Pediatr., 2002, 140 5, 614-616.
    • (2002) J. Pediatr. , vol.140 , Issue.5 , pp. 614-616
    • Owada, M.1    Suzuki, K.2    Fukushi, M.3    Yamauchi, K.4    Kitagawa, T.5
  • 99
    • 14944350835 scopus 로고    scopus 로고
    • Wilson's disease: Clinical management and therapy
    • Brewer, G. J. and Askari, F. K. Wilson's disease: clinical management and therapy. J. Hepatol., 2005, 42(Suppl 1), S13-S21.
    • (2005) J. Hepatol. , vol.42 , Issue.1 SUPPL.
    • Brewer, G.J.1    Askari, F.K.2
  • 100
    • 77954067057 scopus 로고    scopus 로고
    • Monitoring copper in Wilson's disease
    • Walshe, J. M. Monitoring copper in Wilson's disease. Adv. Clin. Chem., 2010, 50, 151-163.
    • (2010) Adv. Clin. Chem. , vol.50 , pp. 151-163
    • Walshe, J.M.1
  • 101
    • 0033624999 scopus 로고    scopus 로고
    • Penicillamine-induced elastosis perforans serpiginosa and cutis laxa in Wilson's disease, Br
    • Hill, V. A.; Seymour, C. A.; Mortimer, P. S. Penicillamine-induced elastosis perforans serpiginosa and cutis laxa in Wilson's disease, Br. J. Dermatol., 2000, 142 3, 560-561.
    • (2000) J. Dermatol. , vol.142 , Issue.3 , pp. 560-561
    • Hill, V.A.1    Seymour, C.A.2    Mortimer, P.S.3
  • 102
    • 0030791354 scopus 로고    scopus 로고
    • Metabolism of administered triethylene tetramine dihydrochloride in humans
    • Kodama, H.; Murata, Y.; Iitsyka, T.; Abe, T. Metabolism of administered triethylene tetramine dihydrochloride in humans. Life Sci., 1997, 61 9, 899-907.
    • (1997) Life Sci. , vol.61 , Issue.9 , pp. 899-907
    • Kodama, H.1    Murata, Y.2    Iitsyka, T.3    Abe, T.4
  • 103
    • 75549089535 scopus 로고    scopus 로고
    • Triethylene tetramine dihydrochloride (trientine) in children with Wilson disease: Experience at King's Collage Hospital and review of the literature
    • DOI 10.1007/s00431-008-0886-8
    • Taylor, R. M.; Chen, Y.; Dhawan, A. Triethylene tetramine dihydrochloride (trientine) in children with Wilson disease: experience at King's Collage Hospital and review of the literature. Eur. J. Pediatr., 2009, DOI 10.1007/s00431-008-0886-8.
    • (2009) Eur. J. Pediatr.
    • Taylor, R.M.1    Chen, Y.2    Dhawan, A.3
  • 105
    • 33644636161 scopus 로고    scopus 로고
    • Paradigm shift in treatment of Wilson's disease: Zinc therapy now treatment of choice
    • Hoogenraad, T. U. Paradigm shift in treatment of Wilson's disease: Zinc therapy now treatment of choice. Brain Dev., 2006, 28 3, 141-146.
    • (2006) Brain Dev. , vol.28 , Issue.3 , pp. 141-146
    • Hoogenraad, T.U.1
  • 107
    • 67649874760 scopus 로고    scopus 로고
    • Treatment of Wilson's disease with tetrathiomolybdate: V. control of free copper by tetrathiomolybdate and a comparison with trientine
    • Brewer, G. J.; Askari, F.; Dick, R. B.; Sitterly, J.; Fink, J. K.; Carlson, M.; Kluin, K. J.; Lorincz, M. T. Treatment of Wilson's disease with tetrathiomolybdate: V. control of free copper by tetrathiomolybdate and a comparison with trientine. Transl. Res., 2009, 154 2, 70-77.
    • (2009) Transl. Res. , vol.154 , Issue.2 , pp. 70-77
    • Brewer, G.J.1    Askari, F.2    Dick, R.B.3    Sitterly, J.4    Fink, J.K.5    Carlson, M.6    Kluin, K.J.7    Lorincz, M.T.8
  • 108
    • 33645733769 scopus 로고    scopus 로고
    • Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease
    • Brewer, G. J.; Askari, F.; Lorincz, M. T.; Carlson, M.; Schilsky, M.; Kluin, K. J.; Hedera, P.; Moretti, P.; Fink, J. K.; Tanlanow, R.; Dick, R. B.; Sitterly, J. Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch. Neurol., 2006, 63 4, 521-527.
    • (2006) Arch. Neurol. , vol.63 , Issue.4 , pp. 521-527
    • Brewer, G.J.1    Askari, F.2    Lorincz, M.T.3    Carlson, M.4    Schilsky, M.5    Kluin, K.J.6    Hedera, P.7    Moretti, P.8    Fink, J.K.9    Tanlanow, R.10    Dick, R.B.11    Sitterly, J.12
  • 110
    • 16244386202 scopus 로고    scopus 로고
    • Neurologically presenting Wilson's disease: Epidemiology, pathophysiology and treatment
    • Brewer, G. J. Neurologically presenting Wilson's disease: epidemiology, pathophysiology and treatment. CNS Drugs, 2005, 19 3, 185-192.
    • (2005) CNS Drugs , vol.19 , Issue.3 , pp. 185-192
    • Brewer, G.J.1
  • 111
    • 63849343881 scopus 로고    scopus 로고
    • Systematic review: Clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease
    • Wiggelinkhuizen, M.; Tilanus, M. E. C.; Bollen, C. W.; Houwen, R. H. J. Systematic review: clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease. Aliment. Pharmacol. Ther., 2009, 29 9, 947-958.
    • (2009) Aliment. Pharmacol. Ther. , vol.29 , Issue.9 , pp. 947-958
    • Wiggelinkhuizen, M.1    Tilanus, M.E.C.2    Bollen, C.W.3    Houwen, R.H.J.4
  • 112
    • 72949100331 scopus 로고    scopus 로고
    • Long-term exclusive zinc monotherapy in symptomatic Wilson disease: Experience in 17 patients
    • Linn, F. H. H.; Houwen, R. H. J.; van Hattum, J.; van der Kleij, S.; van Erpecum, K. J. Long-term exclusive zinc monotherapy in symptomatic Wilson disease: Experience in 17 patients. Hepatol., 2009, 50 5, 1442-1452.
    • (2009) Hepatol. , vol.50 , Issue.5 , pp. 1442-1452
    • Linn, F.H.H.1    Houwen, R.H.J.2    Hattum, J.3    Van Der Kleij, S.4    Van Erpecum, K.J.5
  • 114
    • 0036300936 scopus 로고    scopus 로고
    • Hepatic copper concentration in children undergoing living related liver transplantation due to Wilsonian fulminant hepatic failure
    • Komatsu, H.; Fujisawa, T.; Inui, A.; Sogo, T.; Sekine, I.; Kodama, H.; Uemoto, S.; Tanaka, K. Hepatic copper concentration in children undergoing living related liver transplantation due to Wilsonian fulminant hepatic failure. Clin. Transplant., 2002, 16 3, 227-232.
    • (2002) Clin. Transplant. , vol.16 , Issue.3 , pp. 227-232
    • Komatsu, H.1    Fujisawa, T.2    Inui, A.3    Sogo, T.4    Sekine, I.5    Kodama, H.6    Uemoto, S.7    Tanaka, K.8
  • 115
    • 77954735160 scopus 로고    scopus 로고
    • Persistence with treatment in patients with Wilson disease
    • Masełbas, W.; Chabik, G.; Członkowska, A. Persistence with treatment in patients with Wilson disease. Neurol. Neurochir. Pol., 2010, 44 3, 260-263.
    • (2010) Neurol. Neurochir. Pol. , vol.44 , Issue.3 , pp. 260-263
    • Masełbas, W.1    Chabik, G.2    Członkowska, A.3
  • 118
    • 70449725137 scopus 로고    scopus 로고
    • Potential of vitamin E as an antioxidant adjunct in Wilson's disease
    • Fryer, M. J. Potential of vitamin E as an antioxidant adjunct in Wilson's disease. Med. Hypotheses, 2009, 73 6, 1029-1030.
    • (2009) Med. Hypotheses , vol.73 , Issue.6 , pp. 1029-1030
    • Fryer, M.J.1
  • 119
    • 0034937998 scopus 로고    scopus 로고
    • Copper control as an antiangiogenic anticancer therapy: Lessons from treating Wilson's disease
    • Brewer, G. J. Copper control as an antiangiogenic anticancer therapy: Lessons from treating Wilson's disease. Exp. Biol. Med., 2001, 226 7, 665-673.
    • (2001) Exp. Biol. Med. , vol.226 , Issue.7 , pp. 665-673
    • Brewer, G.J.1
  • 120
    • 0141799951 scopus 로고    scopus 로고
    • Tetrathiomolybdate anticopper therapy for Wilson's disease inhibits angiogenesis, fibrosis and inflammation
    • Brewer, G. J. Tetrathiomolybdate anticopper therapy for Wilson's disease inhibits angiogenesis, fibrosis and inflammation. J. Cell Mol. Med., 2003, 7 1, 11-20.
    • (2003) J. Cell Mol. Med. , vol.7 , Issue.1 , pp. 11-20
    • Brewer, G.J.1
  • 122
    • 0038323978 scopus 로고    scopus 로고
    • Supplying copper to the cuproenzymes peptidylglycine α-amidating monooxygenase
    • Meskini, R. E.; Culotta, V. C.; Mains, R. E.; Eipper, B. A. Supplying copper to the cuproenzymes peptidylglycine α-amidating monooxygenase. J. Biol. Chem., 2003, 278 14, 12278-12284.
    • (2003) J. Biol. Chem. , vol.278 , Issue.14 , pp. 12278-12284
    • Meskini, R.E.1    Culotta, V.C.2    Mains, R.E.3    Eipper, B.A.4
  • 123
    • 33646386896 scopus 로고    scopus 로고
    • Decrease hephaestin activity in the intestine of copper-deficient mice causes systemic iron deficiency
    • Chen, H.; Huang, G.; Su, T.; Gao, H.; Attieh, Z. K.; McKie, A. T.; Anderson, G. J.; Vulpe, C. D. Decrease hephaestin activity in the intestine of copper-deficient mice causes systemic iron deficiency. J. Nutr., 2006, 136 5, 1236-1241.
    • (2006) J. Nutr. , vol.136 , Issue.5 , pp. 1236-1241
    • Chen, H.1    Huang, G.2    Su, T.3    Gao, H.4    Attieh, Z.K.5    McKie, A.T.6    Anderson, G.J.7    Vulpe, C.D.8
  • 124
    • 0002702165 scopus 로고    scopus 로고
    • 14-Structure and function of angiogenin
    • Riordan, J. F. 14-Structure and function of angiogenin. Ribonuclease, 1997, 445-489.
    • (1997) Ribonuclease , pp. 445-489
    • Riordan, J.F.1
  • 125
    • 0037339049 scopus 로고    scopus 로고
    • Angiogenin: An antimicrobial ribonuclease
    • Ganz, T. Angiogenin: an antimicrobial ribonuclease. Nat. Immunol., 2003, 4 3, 213-214.
    • (2003) Nat. Immunol. , vol.4 , Issue.3 , pp. 213-214
    • Ganz, T.1
  • 126
    • 0037340434 scopus 로고    scopus 로고
    • Angiogenins: A new class of microbicidal proteins involved in innate immunity
    • Hooper, L. V.; Stappenbeck, T. S.; Hong, C. V.; Gordon, J. I. Angiogenins: a new class of microbicidal proteins involved in innate immunity. Nat. Immunol., 2003, 4 3, 269-273.
    • (2003) Nat. Immunol. , vol.4 , Issue.3 , pp. 269-273
    • Hooper, L.V.1    Stappenbeck, T.S.2    Hong, C.V.3    Gordon, J.I.4
  • 128
    • 77955924406 scopus 로고    scopus 로고
    • Plasmin-induced procoagulant effects in the blood coagulation: A crutial role of coagulation factor V and VIII
    • Ogiwara, K.; Nogami, K.; Nishiya, K.; Shima, M. Plasmin-induced procoagulant effects in the blood coagulation: a crutial role of coagulation factor V and VIII. Blood Coagul. Fibrinolysis, 2010, 21 6, 568-576.
    • (2010) Blood Coagul. Fibrinolysis , vol.21 , Issue.6 , pp. 568-576
    • Ogiwara, K.1    Nogami, K.2    Nishiya, K.3    Shima, M.4
  • 129
    • 0037442613 scopus 로고    scopus 로고
    • Tetrathiomolybdate causes formation of hepatic copper-molybdenum clusters in an animal model of Wilson's disease
    • George, G. N.; Pickering, I. J.; Harris, H. H.; Gailer, J.; Klein, D.; Lichtmannegger, J.; Summer, K. K. Tetrathiomolybdate causes formation of hepatic copper-molybdenum clusters in an animal model of Wilson's disease. J. Am. Chem. Soc., 2003, 125 7, 1704-1705.
    • (2003) J. Am. Chem. Soc. , vol.125 , Issue.7 , pp. 1704-1705
    • George, G.N.1    Pickering, I.J.2    Harris, H.H.3    Gailer, J.4    Klein, D.5    Lichtmannegger, J.6    Summer, K.K.7
  • 130
    • 0023178114 scopus 로고
    • Worsening of neurological syndrome in patients with Wilson's disease with initial penicillamine therapy
    • Brewer, G. J.; Terry, C. A.; Aisen, A. M.; Hill, G. M. Worsening of neurological syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch. Neurol., 1987, 44 5, 490-493.
    • (1987) Arch. Neurol. , vol.44 , Issue.5 , pp. 490-493
    • Brewer, G.J.1    Terry, C.A.2    Aisen, A.M.3    Hill, G.M.4


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