메뉴 건너뛰기




Volumn 28, Issue 1, 2014, Pages 8-12

Polymorphisms of metal transporter genes DMT1 and ATP7A in wilson's disease

Author keywords

ATP7A; DMT1; Polymorphism; Wilson's disease

Indexed keywords

MENKES PROTEIN; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2;

EID: 84890891437     PISSN: 0946672X     EISSN: 18783252     Source Type: Journal    
DOI: 10.1016/j.jtemb.2013.08.002     Document Type: Article
Times cited : (23)

References (37)
  • 2
    • 80052920363 scopus 로고    scopus 로고
    • Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's disease
    • Gromadzka G., Rudnicka M., Chabik G., Przybylkowski A., Czlonkowska A. Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's disease. J Hepatol 2011, 55(4):913-919.
    • (2011) J Hepatol , vol.55 , Issue.4 , pp. 913-919
    • Gromadzka, G.1    Rudnicka, M.2    Chabik, G.3    Przybylkowski, A.4    Czlonkowska, A.5
  • 3
    • 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., et al. 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
  • 4
    • 33645037852 scopus 로고    scopus 로고
    • P.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease
    • Gromadzka G., Schmidt H.H., Genschel J., Bochow B., Rodo M., Tarnacka B., et al. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease. Mov Disord 2006, 21(2):245-248.
    • (2006) Mov Disord , vol.21 , Issue.2 , pp. 245-248
    • Gromadzka, G.1    Schmidt, H.H.2    Genschel, J.3    Bochow, B.4    Rodo, M.5    Tarnacka, B.6
  • 5
    • 77649312565 scopus 로고    scopus 로고
    • Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease
    • Merle U., Weiss K.H., Eisenbach C., Tuma S., Ferenci P., Stremmel W. Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease. BMC Gastroenterol 2010, 10:p8.
    • (2010) BMC Gastroenterol , vol.10
    • Merle, U.1    Weiss, K.H.2    Eisenbach, C.3    Tuma, S.4    Ferenci, P.5    Stremmel, W.6
  • 6
    • 7244220246 scopus 로고    scopus 로고
    • The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis
    • Stapelbroek J.M., Bollen C.W., van Amstel J.K., van Erpecum K.J., van Hattum J., van den Berg L.H., et al. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. J Hepatol 2004, 41(5):758-763.
    • (2004) J Hepatol , vol.41 , Issue.5 , pp. 758-763
    • Stapelbroek, J.M.1    Bollen, C.W.2    van Amstel, J.K.3    van Erpecum, K.J.4    van Hattum, J.5    van den Berg, L.H.6
  • 7
    • 0033975764 scopus 로고    scopus 로고
    • The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease
    • Schiefermeier M., Kollegger H., Madl C., Polli C., Oder W., Kuhn H., et al. The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease. Brain 2000, 123(Pt 3):585-590.
    • (2000) Brain , vol.123 , Issue.PART 3 , pp. 585-590
    • Schiefermeier, M.1    Kollegger, H.2    Madl, C.3    Polli, C.4    Oder, W.5    Kuhn, H.6
  • 8
    • 33745825195 scopus 로고    scopus 로고
    • Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson disease
    • Merle U., Stremmel W., Gessner R. Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson disease. Arch Neurol 2006, 63(7):982-985.
    • (2006) Arch Neurol , vol.63 , Issue.7 , pp. 982-985
    • Merle, U.1    Stremmel, W.2    Gessner, R.3
  • 9
    • 84155160660 scopus 로고    scopus 로고
    • Gender differences in Wilson's disease
    • Litwin T., Gromadzka G., Czlonkowska A. Gender differences in Wilson's disease. J Neurol Sci 2012, 312(1-2):31-35.
    • (2012) J Neurol Sci , vol.312 , Issue.1-2 , pp. 31-35
    • Litwin, T.1    Gromadzka, G.2    Czlonkowska, A.3
  • 10
    • 84860356867 scopus 로고    scopus 로고
    • E gene (APOE) genotype in Wilson's disease: impact on clinical presentation
    • Apolipoprotein
    • Litwin T., Gromadzka G., Czlonkowska A., Apolipoprotein E gene (APOE) genotype in Wilson's disease: impact on clinical presentation. Parkinson Relat Disord 2012, 18(4):367-369.
    • (2012) Parkinson Relat Disord , vol.18 , Issue.4 , pp. 367-369
    • Litwin, T.1    Gromadzka, G.2    Czlonkowska, A.3
  • 12
    • 78650588613 scopus 로고    scopus 로고
    • Influence of IL-1RN intron 2 variable number of tandem repeats (VNTR) polymorphism on the age at onset of neuropsychiatric symptoms in Wilson's disease
    • Gromadzka G., Czlonkowska A. Influence of IL-1RN intron 2 variable number of tandem repeats (VNTR) polymorphism on the age at onset of neuropsychiatric symptoms in Wilson's disease. Int J Neurosci 2011, 121(1):8-15.
    • (2011) Int J Neurosci , vol.121 , Issue.1 , pp. 8-15
    • Gromadzka, G.1    Czlonkowska, A.2
  • 13
    • 84897921273 scopus 로고    scopus 로고
    • Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease
    • [Epub ahead of print]
    • Weiss K.H., Runz H., Noe B., Gotthardt D.N., Merle U., Ferenci P., et al. Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. J Inherit Metab Dis 2010, [Epub ahead of print].
    • (2010) J Inherit Metab Dis
    • Weiss, K.H.1    Runz, H.2    Noe, B.3    Gotthardt, D.N.4    Merle, U.5    Ferenci, P.6
  • 14
  • 15
    • 0033535442 scopus 로고    scopus 로고
    • Oxidative DNA damage mediated by copper(II), iron(II) and nickel(II) fenton reactions: evidence for site-specific mechanisms in the formation of double-strand breaks, 8-hydroxydeoxyguanosine and putative intrastrand cross-links
    • Lloyd D.R., Phillips D.H. Oxidative DNA damage mediated by copper(II), iron(II) and nickel(II) fenton reactions: evidence for site-specific mechanisms in the formation of double-strand breaks, 8-hydroxydeoxyguanosine and putative intrastrand cross-links. Mutat Res 1999, 424(1-2):23-36.
    • (1999) Mutat Res , vol.424 , Issue.1-2 , pp. 23-36
    • Lloyd, D.R.1    Phillips, D.H.2
  • 16
    • 17644388445 scopus 로고    scopus 로고
    • The molecular basis of copper and iron interactions
    • Sharp P. The molecular basis of copper and iron interactions. Proc Nutr Soc 2004, 63(4):563-569.
    • (2004) Proc Nutr Soc , vol.63 , Issue.4 , pp. 563-569
    • Sharp, P.1
  • 17
    • 1342281234 scopus 로고    scopus 로고
    • SLC11 family of H+-coupled metal-ion transporters NRAMP1 and DMT1
    • Mackenzie B., Hediger M.A. SLC11 family of H+-coupled metal-ion transporters NRAMP1 and DMT1. Pflugers Arch 2004, 447(5):571-579.
    • (2004) Pflugers Arch , vol.447 , Issue.5 , pp. 571-579
    • Mackenzie, B.1    Hediger, M.A.2
  • 18
    • 57449092273 scopus 로고    scopus 로고
    • Divalent metal transporter 1 (DMT1) contributes to neurodegeneration in animal models of Parkinson's disease
    • Salazar J., Mena N., Hunot S., Prigent A., Alvarez-Fischer D., Arredondo M., et al. Divalent metal transporter 1 (DMT1) contributes to neurodegeneration in animal models of Parkinson's disease. Proc Natl Acad Sci USA 2008, 105(47):18578-18583.
    • (2008) Proc Natl Acad Sci USA , vol.105 , Issue.47 , pp. 18578-18583
    • Salazar, J.1    Mena, N.2    Hunot, S.3    Prigent, A.4    Alvarez-Fischer, D.5    Arredondo, M.6
  • 19
    • 0035097871 scopus 로고    scopus 로고
    • Is Parkinson's disease the heterozygote form of Wilson's disease: PD=1/2 WD?
    • Johnson S. Is Parkinson's disease the heterozygote form of Wilson's disease: PD=1/2 WD?. Med Hypotheses 2001, 56(2):171-173.
    • (2001) Med Hypotheses , vol.56 , Issue.2 , pp. 171-173
    • Johnson, S.1
  • 20
    • 0028710036 scopus 로고
    • Menkes disease
    • Kaler S.G. Menkes disease. Adv Pediatr 1994, 41:263-304.
    • (1994) Adv Pediatr , vol.41 , pp. 263-304
    • Kaler, S.G.1
  • 21
    • 84861306264 scopus 로고    scopus 로고
    • Penicillamine increases free copper and enhances oxidative stress in the brain of toxic milk mice
    • Chen D.B., Feng L., Lin X.P., Zhang W., Li F.R., Liang X.L., et al. Penicillamine increases free copper and enhances oxidative stress in the brain of toxic milk mice. PLoS ONE 2012, 7(5):pe37709.
    • (2012) PLoS ONE , vol.7 , Issue.5
    • Chen, D.B.1    Feng, L.2    Lin, X.P.3    Zhang, W.4    Li, F.R.5    Liang, X.L.6
  • 22
    • 77953851473 scopus 로고    scopus 로고
    • Cardiac copper deficiency activates a systemic signaling mechanism that communicates with the copper acquisition and storage organs
    • Kim B.E., Turski M.L., Nose Y., Casad M., Rockman H.A., Thiele D.J. Cardiac copper deficiency activates a systemic signaling mechanism that communicates with the copper acquisition and storage organs. Cell Metab 2010, 11(5):353-363.
    • (2010) Cell Metab , vol.11 , Issue.5 , pp. 353-363
    • Kim, B.E.1    Turski, M.L.2    Nose, Y.3    Casad, M.4    Rockman, H.A.5    Thiele, D.J.6
  • 23
    • 50549170204 scopus 로고
    • An improved colorimetric enzymatic assay of ceruloplasmin
    • Ravin H.A. An improved colorimetric enzymatic assay of ceruloplasmin. J Lab Clin Med 1961, 58:161-168.
    • (1961) J Lab Clin Med , vol.58 , pp. 161-168
    • Ravin, H.A.1
  • 24
    • 0344085880 scopus 로고    scopus 로고
    • Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis
    • Zoller H., Pietrangelo A., Vogel W., Weiss G. Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis. Lancet 1999, 353(9170):2120-2123.
    • (1999) Lancet , vol.353 , Issue.9170 , pp. 2120-2123
    • Zoller, H.1    Pietrangelo, A.2    Vogel, W.3    Weiss, G.4
  • 25
    • 0038249175 scopus 로고    scopus 로고
    • DMT1, a physiologically relevant apical Cu1+ transporter of intestinal cells
    • Arredondo M., Munoz P., Mura C.V., Nunez M.T. DMT1, a physiologically relevant apical Cu1+ transporter of intestinal cells. Am J Physiol Cell Physiol 2003, 284(6):C1525-C1530.
    • (2003) Am J Physiol Cell Physiol , vol.284 , Issue.6
    • Arredondo, M.1    Munoz, P.2    Mura, C.V.3    Nunez, M.T.4
  • 26
    • 33747849534 scopus 로고    scopus 로고
    • Ctr1 drives intestinal copper absorption and is essential for growth, iron metabolism, and neonatal cardiac function
    • Nose Y., Kim B.E., Thiele D.J. Ctr1 drives intestinal copper absorption and is essential for growth, iron metabolism, and neonatal cardiac function. Cell Metab 2006, 4(3):235-244.
    • (2006) Cell Metab , vol.4 , Issue.3 , pp. 235-244
    • Nose, Y.1    Kim, B.E.2    Thiele, D.J.3
  • 27
    • 0037354169 scopus 로고    scopus 로고
    • The copper-iron chronicles: the story of an intimate relationship
    • Fox P.L. The copper-iron chronicles: the story of an intimate relationship. Biometals 2003, 16(1):9-40.
    • (2003) Biometals , vol.16 , Issue.1 , pp. 9-40
    • Fox, P.L.1
  • 28
    • 0029007765 scopus 로고
    • Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family
    • Morita H., Ikeda S., Yamamoto K., Morita S., Yoshida K., Nomoto S., et al. Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. Ann Neurol 1995, 37(5):646-656.
    • (1995) Ann Neurol , vol.37 , Issue.5 , pp. 646-656
    • Morita, H.1    Ikeda, S.2    Yamamoto, K.3    Morita, S.4    Yoshida, K.5    Nomoto, S.6
  • 29
    • 0036905751 scopus 로고    scopus 로고
    • HFE gene mutations and iron metabolism in Wilson's disease
    • Erhardt A., Hoffmann A., Hefter H., Haussinger D. HFE gene mutations and iron metabolism in Wilson's disease. Liver 2002, 22(6):474-478.
    • (2002) Liver , vol.22 , Issue.6 , pp. 474-478
    • Erhardt, A.1    Hoffmann, A.2    Hefter, H.3    Haussinger, D.4
  • 30
    • 0032508265 scopus 로고    scopus 로고
    • Effect of treatment of Wilson's disease on natural history of haemochromatosis
    • Walshe J.M., Cox D.W. Effect of treatment of Wilson's disease on natural history of haemochromatosis. Lancet 1998, 352(9122):112-113.
    • (1998) Lancet , vol.352 , Issue.9122 , pp. 112-113
    • Walshe, J.M.1    Cox, D.W.2
  • 32
    • 84856489978 scopus 로고    scopus 로고
    • Regulation of brain iron and copper homeostasis by brain barrier systems: implication in neurodegenerative diseases
    • Zheng W., Monnot A.D. Regulation of brain iron and copper homeostasis by brain barrier systems: implication in neurodegenerative diseases. Pharmacol Ther 2012, 133(2):177-188.
    • (2012) Pharmacol Ther , vol.133 , Issue.2 , pp. 177-188
    • Zheng, W.1    Monnot, A.D.2
  • 33
    • 84864289489 scopus 로고    scopus 로고
    • An association between environmental factors and the IVS4+44C>A polymorphism of the DMT1 gene in age-related macular degeneration
    • Wysokinski D., Zaras M., Dorecka M., Waszczyk M., Szaflik J., Blasiak J., et al. An association between environmental factors and the IVS4+44C>A polymorphism of the DMT1 gene in age-related macular degeneration. Graefes Arch Clin Exp Ophthalmol 2012, 250(7):1057-1065.
    • (2012) Graefes Arch Clin Exp Ophthalmol , vol.250 , Issue.7 , pp. 1057-1065
    • Wysokinski, D.1    Zaras, M.2    Dorecka, M.3    Waszczyk, M.4    Szaflik, J.5    Blasiak, J.6
  • 34
    • 79961207947 scopus 로고    scopus 로고
    • DMT1 polymorphism and risk of Parkinson's disease
    • He Q., Du T., Yu X., Xie A., Song N., Kang Q., et al. DMT1 polymorphism and risk of Parkinson's disease. Neurosci Lett 2011, 501(3):128-131.
    • (2011) Neurosci Lett , vol.501 , Issue.3 , pp. 128-131
    • He, Q.1    Du, T.2    Yu, X.3    Xie, A.4    Song, N.5    Kang, Q.6
  • 35
    • 3042651699 scopus 로고    scopus 로고
    • DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis
    • Kelleher T., Ryan E., Barrett S., O'Keane C., Crowe J. DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis. Blood Cells Mol Dis 2004, 33(1):35-39.
    • (2004) Blood Cells Mol Dis , vol.33 , Issue.1 , pp. 35-39
    • Kelleher, T.1    Ryan, E.2    Barrett, S.3    O'Keane, C.4    Crowe, J.5
  • 36
    • 70349342931 scopus 로고    scopus 로고
    • Divalent metal transporter 1 (DMT1) regulation by Ndfip1 prevents metal toxicity in human neurons
    • Howitt J., Putz U., Lackovic J., Doan A., Dorstyn L., Cheng H., et al. Divalent metal transporter 1 (DMT1) regulation by Ndfip1 prevents metal toxicity in human neurons. Proc Natl Acad Sci USA 2009, 106(36):15489-15494.
    • (2009) Proc Natl Acad Sci USA , vol.106 , Issue.36 , pp. 15489-15494
    • Howitt, J.1    Putz, U.2    Lackovic, J.3    Doan, A.4    Dorstyn, L.5    Cheng, H.6
  • 37
    • 84861561342 scopus 로고    scopus 로고
    • 1B/(-)IRE DMT1 expression during brain ischemia contributes to cell death mediated by NF-kappaB/RelA acetylation at Lys310
    • Ingrassia R., Lanzillotta A., Sarnico I., Benarese M., Blasi F., Borgese L., et al. 1B/(-)IRE DMT1 expression during brain ischemia contributes to cell death mediated by NF-kappaB/RelA acetylation at Lys310. PLoS ONE 2012, 7(5):pe38019.
    • (2012) PLoS ONE , vol.7 , Issue.5
    • Ingrassia, R.1    Lanzillotta, A.2    Sarnico, I.3    Benarese, M.4    Blasi, F.5    Borgese, L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.