메뉴 건너뛰기




Volumn 16, Issue 10, 2009, Pages 1130-1137

Hypoceruloplasminemia-related movement disorder without kayser-fleischer rings is different from wilson disease and not involved in ATP7B mutation

Author keywords

ATP7B gene; Kayser Fleischer rings; Movement disorder; Serum ceruloplasmin; Wilson disease

Indexed keywords

CERULOPLASMIN; COPPER; WILSON DISEASE PROTEIN;

EID: 70349229546     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2009.02733.x     Document Type: Article
Times cited : (15)

References (23)
  • 1
    • 0000852301 scopus 로고
    • Deficiency of caeruloplasmin in patients with hepatolenticular degeneration
    • Scheinberg IH, Gitlin D. Deficiency of caeruloplasmin in patients with hepatolenticular degeneration. Science 1952 116 : 484 485.
    • (1952) Science , vol.116 , pp. 484-485
    • Scheinberg, I.H.1    Gitlin, D.2
  • 2
    • 0027452091 scopus 로고
    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    • Bull PC, Thomas GR, Rommens JM, et al. 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    Rommens, J.M.3
  • 3
    • 0028090209 scopus 로고
    • Hereditary ceruloplasmin deficiency, dementia and diabetes mellitus
    • Logan JI, Harveyson KB, Wisdom GB, et al. Hereditary ceruloplasmin deficiency, dementia and diabetes mellitus. Q J Med 1994 87 : 663 670.
    • (1994) Q J Med , vol.87 , pp. 663-670
    • Logan, J.I.1    Harveyson, K.B.2    Wisdom, G.B.3
  • 4
    • 0021279259 scopus 로고
    • Chromosomal location of human metallothionein genes: Implications for Menkes' disease
    • Schmidt CJ, Hamer DH, McBride OW. Chromosomal location of human metallothionein genes: implications for Menkes' disease. Science 1984 224 : 1104 1106.
    • (1984) Science , vol.224 , pp. 1104-1106
    • Schmidt, C.J.1    Hamer, D.H.2    McBride, O.W.3
  • 5
    • 3242718536 scopus 로고    scopus 로고
    • Copper deficiency myelopathy produces a clinical picture like subacute combined degeneration
    • Kumar N, Gross JB, Ahlskog JE. Copper deficiency myelopathy produces a clinical picture like subacute combined degeneration. Neurology 2004 63 : 33 39.
    • (2004) Neurology , vol.63 , pp. 33-39
    • Kumar, N.1    Gross, J.B.2    Ahlskog, J.E.3
  • 6
    • 1842504248 scopus 로고    scopus 로고
    • Aceruloplasminemia: An inherited neurodegenerative disease with impairment of iron homeostasis
    • Xu X, Pin S, Gathinji M, et al. Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. Ann NY Acad Sci 2004 1012 : 299 305.
    • (2004) Ann NY Acad Sci , vol.1012 , pp. 299-305
    • Xu, X.1    Pin, S.2    Gathinji, M.3
  • 7
    • 0031981976 scopus 로고    scopus 로고
    • Aceruloplasminemia: An inherited neurodegenerative disease with impairment of iron homeostasis
    • Harris ZL, Klomp LWJ, Gitlin JD. Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. Am J Clin Nutr 1998 67 (suppl 972S 977S.
    • (1998) Am J Clin Nutr , vol.67 , Issue.SUPPL.
    • Harris, Z.L.1    Klomp, L.W.J.2    Gitlin, J.D.3
  • 8
    • 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, et al. The copper-transporting ATPases, Menkes and Wilson disease proteins, have distinct roles in adult and developing cerebellum. J Biol Chem 2005 280 : 9640 9645.
    • (2005) J Biol Chem , vol.280 , pp. 9640-9645
    • Barnes, N.1    Tsivkovskii, R.2    Tsivkovskaia, N.3
  • 9
    • 33749534285 scopus 로고    scopus 로고
    • Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity
    • Schlief ML, West T, Craig AM, et al. Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity. Proc Natl Acad Sci U S A 2006 103 : 14919 14924.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 14919-14924
    • Schlief, M.L.1    West, T.2    Craig, A.M.3
  • 10
    • 70349240064 scopus 로고    scopus 로고
    • Wilson disease
    • In. Schapira, A.H.V. ed. Philadelphia, PA. Mosby Inc.
    • Menkes JH. Wilson disease. In : Schapira AHV ed. Neurology and Clinical Neuroscience. Philadelphia, PA : Mosby Inc., 2007 : 1447 1453.
    • (2007) Neurology and Clinical Neuroscience. , pp. 1447-1453
    • Menkes, J.H.1
  • 11
    • 0034122412 scopus 로고    scopus 로고
    • Diagnosis of Wilson disease: An experience over three decades
    • Gow PJ, Smallwood RA, Angus PW, et al. Diagnosis of Wilson disease: an experience over three decades. Gut 2000 46 : 415 419.
    • (2000) Gut , vol.46 , pp. 415-419
    • Gow, P.J.1    Smallwood, R.A.2    Angus, P.W.3
  • 13
  • 14
    • 33644936760 scopus 로고    scopus 로고
    • Diagnostic significance of reduced serum ceruloplasmin concentration in neurological disease
    • Walshe JM. Diagnostic significance of reduced serum ceruloplasmin concentration in neurological disease. Mov Disord 2005 20 : 1658 1661.
    • (2005) Mov Disord , vol.20 , pp. 1658-1661
    • Walshe, J.M.1
  • 15
    • 2942579169 scopus 로고    scopus 로고
    • Comparison of ultrafiltration and solid phase extraction for the separation of free and protein-bound serum copper for the Wilson's disease diagnosis
    • Bohrer D, Do Nascimento PC, Ramirez AG, et al. Comparison of ultrafiltration and solid phase extraction for the separation of free and protein-bound serum copper for the Wilson's disease diagnosis. Clin Chim Acta 2004 345 : 113 121.
    • (2004) Clin Chim Acta , vol.345 , pp. 113-121
    • Bohrer, D.1    Do Nascimento, P.C.2    Ramirez, A.G.3
  • 16
    • 18144366993 scopus 로고    scopus 로고
    • Wilson disease: High prevalence in a mountainous area of Crete
    • Dedoussis GV, Genschel J, Sialvera TE, et al. Wilson disease: high prevalence in a mountainous area of Crete. Ann Hum Genet 2005 69 (Pt 3 268 274.
    • (2005) Ann Hum Genet , vol.69 , Issue.PART 3 , pp. 268-274
    • Dedoussis, G.V.1    Genschel, J.2    Sialvera, T.E.3
  • 17
    • 0025205112 scopus 로고
    • Perspectives on Wilson disease
    • Sternlieb IH. Perspectives on Wilson disease. Hepatology 1990 12 : 1234 1239.
    • (1990) Hepatology , vol.12 , pp. 1234-1239
    • Sternlieb, I.H.1
  • 18
    • 0142029450 scopus 로고    scopus 로고
    • Diagnosis and phenotypic classification of Wilson disease
    • Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003 23 : 139 142.
    • (2003) Liver Int , vol.23 , pp. 139-142
    • Ferenci, P.1    Caca, K.2    Loudianos, G.3
  • 20
    • 0242609994 scopus 로고    scopus 로고
    • Genetic variation in the promoter and 5′ UTR of the copper transporter, ATP7B, in patients with Wilson disease
    • Cullen LM, Part L, Cox DW. Genetic variation in the promoter and 5′ UTR of the copper transporter, ATP7B, in patients with Wilson disease. Clin Genet 2003 64 : 429 432.
    • (2003) Clin Genet , vol.64 , pp. 429-432
    • Cullen, L.M.1    Part, L.2    Cox, D.W.3
  • 21
    • 27544442658 scopus 로고    scopus 로고
    • Ceruloplasmin in neurodegenerative diseases
    • Vassiliev V, Harris ZL, Zatta Paolo. Ceruloplasmin in neurodegenerative diseases. Brain Res Rev 2005 49 : 633 640.
    • (2005) Brain Res Rev , vol.49 , pp. 633-640
    • Vassiliev, V.1    Harris, Z.L.2    Zatta, P.3
  • 22
    • 49649117772 scopus 로고    scopus 로고
    • Conserved residues modulate copper release in human copper chaperone Atox1
    • Hussain F, Olson JS, Wittung-Stafshede P. Conserved residues modulate copper release in human copper chaperone Atox1. Proc Natl Acad Sci U S A 2008 105 : 11158 11163.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 11158-11163
    • Hussain, F.1    Olson, J.S.2    Wittung-Stafshede, P.3
  • 23
    • 0029134884 scopus 로고
    • Cellular copper transport
    • Vulpe CD, Packman S. Cellular copper transport. Ann Rev Nutr 1995 15 : 293 322.
    • (1995) Ann Rev Nutr , vol.15 , pp. 293-322
    • Vulpe, C.D.1    Packman, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.