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Volumn 36, Issue 6, 2008, Pages 1233-1238

Atp7b-/- mice as a model for studies of Wilson's disease

Author keywords

ATP7A; ATP7B; Copper; Liver; Mouse model; Wilson's disease

Indexed keywords

CERULOPLASMIN; COPPER; COPPER EXPORTING ADENOSINE TRIPHOSPHATASE; MESSENGER RNA; ADENOSINE TRIPHOSPHATASE; CATION TRANSPORT PROTEIN; WILSON DISEASE PROTEIN;

EID: 59149094700     PISSN: 03005127     EISSN: 14708752     Source Type: Journal    
DOI: 10.1042/BST0361233     Document Type: Review
Times cited : (92)

References (44)
  • 1
    • 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. and Cox, D.W. (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat. Genet. 5, 327-337
    • (1993) Nat. Genet , vol.5 , pp. 327-337
    • Bull, P.C.1    Thomas, G.R.2    Rommens, J.M.3    Forbes, J.R.4    Cox, D.W.5
  • 3
    • 41449091131 scopus 로고    scopus 로고
    • New mutations in the Wilson disease gene, ATP7B: Implications for molecular testing
    • Davies, L.P., Macintyre, G. and Cox, D.W. (2008) New mutations in the Wilson disease gene, ATP7B: implications for molecular testing. Genet. Test. 12, 139-145
    • (2008) Genet. Test , vol.12 , pp. 139-145
    • Davies, L.P.1    Macintyre, G.2    Cox, D.W.3
  • 4
    • 33846689185 scopus 로고    scopus 로고
    • Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: Correlation between genotype/phenotype/copper ATPase activity
    • Kumar, S., Thapa, B., Kaur, G. and Prasad, R. (2007) Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity. Mol. Cell. Biochem. 294, 1-10
    • (2007) Mol. Cell. Biochem , vol.294 , pp. 1-10
    • Kumar, S.1    Thapa, B.2    Kaur, G.3    Prasad, R.4
  • 7
    • 33645754710 scopus 로고    scopus 로고
    • Solution structure of the N-domain of Wilson disease protein: Distinct nucleotide-binding environment and effects of disease mutations
    • Dmitriev, O., Tsivkovskii, R., Abildgaard, F., Morgan, C.T., Markley, J.L. and Lutsenko, S. (2006) Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations. Proc. Natl. Acad. Sci. U.S.A. 103, 5302-5307
    • (2006) Proc. Natl. Acad. Sci. U.S.A , vol.103 , pp. 5302-5307
    • Dmitriev, O.1    Tsivkovskii, R.2    Abildgaard, F.3    Morgan, C.T.4    Markley, J.L.5    Lutsenko, S.6
  • 8
    • 4344689863 scopus 로고    scopus 로고
    • The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: Analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F
    • Morgan, C.T., Tsivkovskii, R., Kosinsky, Y.A., Efremov, R.G. and Lutsenko, S. (2004) The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F. J. Biol. Chem. 279, 36363-36371
    • (2004) J. Biol. Chem , vol.279 , pp. 36363-36371
    • Morgan, C.T.1    Tsivkovskii, R.2    Kosinsky, Y.A.3    Efremov, R.G.4    Lutsenko, S.5
  • 9
    • 0032471911 scopus 로고    scopus 로고
    • Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
    • Forbes, J.R. and Cox, D.W. (1998) Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? Am. J. Hum. Genet. 63, 1663-1674
    • (1998) Am. J. Hum. Genet , vol.63 , pp. 1663-1674
    • Forbes, J.R.1    Cox, D.W.2
  • 10
    • 34447510930 scopus 로고    scopus 로고
    • Function and regulation of human copper-transporting ATPases
    • Lutsenko, S., Barnes, N.L., Bartee, M.Y. and Dmitriev, O.Y. (2007) Function and regulation of human copper-transporting ATPases. Physiol. Rev. 87, 1011-1046
    • (2007) Physiol. Rev , vol.87 , pp. 1011-1046
    • Lutsenko, S.1    Barnes, N.L.2    Bartee, M.Y.3    Dmitriev, O.Y.4
  • 11
    • 27444439298 scopus 로고    scopus 로고
    • NH2-terminal signals in ATP7B Cu-ATPase mediate its Cu-dependent anterograde traffic in polarized hepatic cells
    • Guo, Y., Nyasae, L., Braiterman, L.T. and Hubbard, A.L. (2005) NH2-terminal signals in ATP7B Cu-ATPase mediate its Cu-dependent anterograde traffic in polarized hepatic cells. Am. J. Physiol. Gastrointest. Liver Physiol. 289, G904-G916
    • (2005) Am. J. Physiol. Gastrointest. Liver Physiol , vol.289
    • Guo, Y.1    Nyasae, L.2    Braiterman, L.T.3    Hubbard, A.L.4
  • 12
    • 0033862878 scopus 로고    scopus 로고
    • Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion
    • Roelofsen, H., Wolters, H., Van Luyn, M.J., Miura, N., Kuipers, F. and Vonk, R.J. (2000) Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion. Gastroenterology 119, 782-793
    • (2000) Gastroenterology , vol.119 , pp. 782-793
    • Roelofsen, H.1    Wolters, H.2    Van Luyn, M.J.3    Miura, N.4    Kuipers, F.5    Vonk, R.J.6
  • 13
    • 34249082446 scopus 로고    scopus 로고
    • Hepatic copper-transporting ATPase ATP7B: Function and inactivation at the molecular and cellular level
    • Bartee, M.Y. and Lutsenko, S. (2007) Hepatic copper-transporting ATPase ATP7B: function and inactivation at the molecular and cellular level. Biometals 20, 627-637
    • (2007) Biometals , vol.20 , pp. 627-637
    • Bartee, M.Y.1    Lutsenko, S.2
  • 14
    • 35848954099 scopus 로고    scopus 로고
    • Distinct functional roles for the Menkes and Wilson copper translocating P-type ATPases in human placental cells
    • Hardman, B., Michalczyk, A., Greenough, M., Camakaris, J., Mercer, J. and Ackland, L. (2007) Distinct functional roles for the Menkes and Wilson copper translocating P-type ATPases in human placental cells. Cell. Physiol. Biochem. 20, 1073-1084
    • (2007) Cell. Physiol. Biochem , vol.20 , pp. 1073-1084
    • Hardman, B.1    Michalczyk, A.2    Greenough, M.3    Camakaris, J.4    Mercer, J.5    Ackland, L.6
  • 16
    • 0037338448 scopus 로고    scopus 로고
    • Expression of a membrane-bound form of the ferroxidase ceruloplasmin by leptomeningeal cells
    • Mittal, B., Doroudchi, M.M., Jeong, S.Y., Patel, B.N. and David, S. (2003) Expression of a membrane-bound form of the ferroxidase ceruloplasmin by leptomeningeal cells. Glia 41, 337-346
    • (2003) Glia , vol.41 , pp. 337-346
    • Mittal, B.1    Doroudchi, M.M.2    Jeong, S.Y.3    Patel, B.N.4    David, S.5
  • 17
    • 15744392287 scopus 로고    scopus 로고
    • The copper-transporting ATPases, Menkes and Wilson disease proteins, have distinct roles in adult and developing cerebellum
    • Barnes, N., Tsivkovskii, R., Tsivkovskaia, N. and Lutsenko, S. (2005) The copper-transporting ATPases, Menkes and Wilson disease proteins, have distinct roles in adult and developing cerebellum. J. Biol. Chem. 280, 9640-9645
    • (2005) J. Biol. Chem , vol.280 , pp. 9640-9645
    • Barnes, N.1    Tsivkovskii, R.2    Tsivkovskaia, N.3    Lutsenko, S.4
  • 18
    • 0030036172 scopus 로고    scopus 로고
    • Ceruloplasmin gene expression in the murine central nervous system
    • Klomp, L.W., Farhangrazi, Z.S., Dugan, L.L. and Gitlin, J.D. (1996) Ceruloplasmin gene expression in the murine central nervous system. J. Clin. Invest. 98, 207-215
    • (1996) J. Clin. Invest , vol.98 , pp. 207-215
    • Klomp, L.W.1    Farhangrazi, Z.S.2    Dugan, L.L.3    Gitlin, J.D.4
  • 19
    • 34548623301 scopus 로고    scopus 로고
    • Activation of microglial cells by ceruloplasmin
    • Lee, K.H., Yun, S.J., Nam, K.N., Gho, Y.S. and Lee, E.H. (2007) Activation of microglial cells by ceruloplasmin. Brain Res. 1171, 1-8
    • (2007) Brain Res , vol.1171 , pp. 1-8
    • Lee, K.H.1    Yun, S.J.2    Nam, K.N.3    Gho, Y.S.4    Lee, E.H.5
  • 20
    • 53849130636 scopus 로고    scopus 로고
    • Long term follow-up of glomerular and tubular functions in liver transplanted patients with Wilson's disease
    • Ozcay, F., Bayrakci, U.S., Baskin, E., Sakalli, H., Canan, O., Karakayali, H. and Haberal, M. (2008) Long term follow-up of glomerular and tubular functions in liver transplanted patients with Wilson's disease. Pediatr. Transplant. 12, 785-789
    • (2008) Pediatr. Transplant , vol.12 , pp. 785-789
    • Ozcay, F.1    Bayrakci, U.S.2    Baskin, E.3    Sakalli, H.4    Canan, O.5    Karakayali, H.6    Haberal, M.7
  • 22
    • 0023091760 scopus 로고
    • Cardiac Wilson's disease
    • Kuan, P. (1987) Cardiac Wilson's disease. Chest 91, 579-583
    • (1987) Chest , vol.91 , pp. 579-583
    • Kuan, P.1
  • 23
    • 0032806774 scopus 로고    scopus 로고
    • The Long-Evans Cinnamon rat: An animal model for Wilson's disease
    • Terada, K. and Sugiyama, T. (1999) The Long-Evans Cinnamon rat: an animal model for Wilson's disease. Pediatr. Int. 41, 414-418
    • (1999) Pediatr. Int , vol.41 , pp. 414-418
    • Terada, K.1    Sugiyama, T.2
  • 24
    • 0029799960 scopus 로고    scopus 로고
    • The toxic milk mouse is a murine model of Wilson disease
    • Theophilos, M.B., Cox, D.W. and Mercer, J.F. (1996) The toxic milk mouse is a murine model of Wilson disease. Hum. Mol. Genet. 5, 1619-1624
    • (1996) Hum. Mol. Genet , vol.5 , pp. 1619-1624
    • Theophilos, M.B.1    Cox, D.W.2    Mercer, J.F.3
  • 25
    • 0034811959 scopus 로고    scopus 로고
    • The Jackson toxic milk mouse as a model for copper loading
    • Coronado, V., Nanji, M. and Cox, D.W. (2001) The Jackson toxic milk mouse as a model for copper loading. Mamm. Genome 12, 793-795
    • (2001) Mamm. Genome , vol.12 , pp. 793-795
    • Coronado, V.1    Nanji, M.2    Cox, D.W.3
  • 27
    • 0035208812 scopus 로고    scopus 로고
    • Estimate of the frequency of Wilson's disease in the US Caucasian population: A mutation analysis approach
    • Olivarez, L., Caggana, M., Pass, K.A., Ferguson, P. and Brewer, G.J. (2001) Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach. Ann. Hum. Genet. 65, 459-463
    • (2001) Ann. Hum. Genet , vol.65 , pp. 459-463
    • Olivarez, L.1    Caggana, M.2    Pass, K.A.3    Ferguson, P.4    Brewer, G.J.5
  • 28
    • 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. and Ushijima, H. (2003) 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. 64, 479-484
    • (2003) Clin. Genet , vol.64 , 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
  • 29
    • 34147185146 scopus 로고    scopus 로고
    • Wilson's Disease
    • Pfeiffer, R.F. (2007) Wilson's Disease. Semin. Neurol. 27, 123-132
    • (2007) Semin. Neurol , vol.27 , pp. 123-132
    • Pfeiffer, R.F.1
  • 30
    • 16244386202 scopus 로고    scopus 로고
    • Neurologically presenting Wilson's disease: Epidemiology, pathophysiology and treatment
    • Brewer, G.J. (2005) Neurologically presenting Wilson's disease: epidemiology, pathophysiology and treatment. CNS Drugs 19, 185-192
    • (2005) CNS Drugs , vol.19 , pp. 185-192
    • Brewer, G.J.1
  • 31
    • 0019962725 scopus 로고
    • Wilson's disease: Electron microscopic, X-ray energy spectroscopic, and atomic absorption spectroscopic studies of corneal copper deposition and distribution
    • Johnson, R.E. and Campbell, R.J. (1982) Wilson's disease: electron microscopic, X-ray energy spectroscopic, and atomic absorption spectroscopic studies of corneal copper deposition and distribution. Lab. Invest. 46, 564-569
    • (1982) Lab. Invest , vol.46 , pp. 564-569
    • Johnson, R.E.1    Campbell, R.J.2
  • 32
    • 0032878550 scopus 로고    scopus 로고
    • Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation
    • Buiakova, O.I., Xu, J., Lutsenko, S., Zeitlin, S., Das, K., Das, S., Ross, B.M., Mekios, C., Scheinberg, I.H. and Gilliam, T.C. (1999) Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. Hum. Mol. Genet. 8, 1665-1671
    • (1999) Hum. Mol. Genet , vol.8 , pp. 1665-1671
    • Buiakova, O.I.1    Xu, J.2    Lutsenko, S.3    Zeitlin, S.4    Das, K.5    Das, S.6    Ross, B.M.7    Mekios, C.8    Scheinberg, I.H.9    Gilliam, T.C.10
  • 36
    • 41549159468 scopus 로고    scopus 로고
    • ATP7A transgenic and nontransgenic mice are resistant to high copper exposure
    • Ke, B.X., Llanos, R.M. and Mercer, J.F. (2008) ATP7A transgenic and nontransgenic mice are resistant to high copper exposure. J. Nutr. 138, 693-697
    • (2008) J. Nutr , vol.138 , pp. 693-697
    • Ke, B.X.1    Llanos, R.M.2    Mercer, J.F.3
  • 37
    • 34447103789 scopus 로고    scopus 로고
    • Trafficking of the copper-ATPases, ATP7A and ATP7B: Role in copper homeostasis
    • La Fontaine, S. and Mercer, J.F. (2007) Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis. Arch. Biochem. Biophys. 463, 149-167
    • (2007) Arch. Biochem. Biophys , vol.463 , pp. 149-167
    • La Fontaine, S.1    Mercer, J.F.2
  • 38
    • 33847695655 scopus 로고    scopus 로고
    • Hormonal regulation of the Menkes and Wilson copper-transporting ATPases in human placental Jeg-3 cells
    • Hardman, B., Michalczyk, A., Greenough, M., Camakaris, J., Mercer, J.F. and Ackland, M.L. (2007) Hormonal regulation of the Menkes and Wilson copper-transporting ATPases in human placental Jeg-3 cells. Biochem. J. 402, 241-250
    • (2007) Biochem. J , vol.402 , pp. 241-250
    • Hardman, B.1    Michalczyk, A.2    Greenough, M.3    Camakaris, J.4    Mercer, J.F.5    Ackland, M.L.6
  • 40
    • 33746727678 scopus 로고    scopus 로고
    • Developmental changes in the expression of ATP7A during a critical period in postnatal neurodevelopment
    • Niciu, M.J., Ma, X.M., El Meskini, R., Ronnett, G.V., Mains, R.E. and Eipper, B.A. (2006) Developmental changes in the expression of ATP7A during a critical period in postnatal neurodevelopment. Neuroscience 139, 947-964
    • (2006) Neuroscience , vol.139 , pp. 947-964
    • Niciu, M.J.1    Ma, X.M.2    El Meskini, R.3    Ronnett, G.V.4    Mains, R.E.5    Eipper, B.A.6
  • 41
    • 38349167309 scopus 로고    scopus 로고
    • Copper-transporting ATPases ATP7A and ATP7B: Cousins, not twins
    • Linz, R. and Lutsenko, S. (2007) Copper-transporting ATPases ATP7A and ATP7B: cousins, not twins. J. Bioenerg. Biomembr. 39, 403-407
    • (2007) J. Bioenerg. Biomembr , vol.39 , pp. 403-407
    • Linz, R.1    Lutsenko, S.2
  • 43
    • 0021925472 scopus 로고
    • Distribution of copper among components of human serum
    • Wirth, P.L. and Linder, M.C. (1985) Distribution of copper among components of human serum. J. Natl. Cancer Inst. 75, 277-284
    • (1985) J. Natl. Cancer Inst , vol.75 , pp. 277-284
    • Wirth, P.L.1    Linder, M.C.2
  • 44
    • 0037409990 scopus 로고    scopus 로고
    • A mutation in the ATP7B copper transporter causes reduced dopamine β-hydroxylase and norepinephrine in mouse adrenal
    • Gerbasi, V., Lutsenko, S. and Lewis, E.J. (2003) A mutation in the ATP7B copper transporter causes reduced dopamine β-hydroxylase and norepinephrine in mouse adrenal. Neurochem. Res. 28, 867-873
    • (2003) Neurochem. Res , vol.28 , pp. 867-873
    • Gerbasi, V.1    Lutsenko, S.2    Lewis, E.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.