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Volumn 29, Issue 4, 2012, Pages 913-919

Association of K832R and R952K SNPs of wilson's disease gene with alzheimer's disease

Author keywords

Alzheimer's disease; ATP7B; copper; genetic association study; genetics; Wilson's disease

Indexed keywords

APOLIPOPROTEIN E; ARGININE; LYSINE; WILSON DISEASE PROTEIN;

EID: 84860121391     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-2012-111997     Document Type: Article
Times cited : (49)

References (37)
  • 2
    • 0027437209 scopus 로고
    • The centennial of the Fenton reaction
    • DOI 10.1016/0891-5849(93)90168-T
    • Koppenol WH (1993) The centennial of the Fenton reaction. Free Radic Biol Med 15, 645-651. (Pubitemid 23353414)
    • (1993) Free Radical Biology and Medicine , vol.15 , Issue.6 , pp. 645-651
    • Koppenol, W.H.1
  • 4
    • 77049115153 scopus 로고    scopus 로고
    • Clinical utility of copper, ceruloplasmin, and metallothionein plasma determinations in human neurodegenerative patients and their first-degree relatives
    • Arnal N, Cristalli DO, de Alaniz MJ, Marra CA (2010) Clinical utility of copper, ceruloplasmin, and metallothionein plasma determinations in human neurodegenerative patients and their first-degree relatives. Brain Res 1319, 118-130.
    • (2010) Brain Res , vol.1319 , pp. 118-130
    • Arnal, N.1    Cristalli, D.O.2    De Alaniz, M.J.3    Marra, C.A.4
  • 8
    • 0018342680 scopus 로고
    • Copper regulation of ceruloplasmin in copper-deficient rats
    • Linder MC, Houle PA, Isaacs E, Moor JR, Scott LE (1979) Copper regulation of ceruloplasmin in copper-deficient rats. Enzyme 24, 23-35. (Pubitemid 9104724)
    • (1979) Enzyme , vol.24 , Issue.1 , pp. 23-35
    • Linder, M.C.1    Houle, P.A.2    Isaacs, E.3
  • 9
    • 0018192041 scopus 로고
    • Evidence for uptake of nonceruloplasminic copper in the brain: effect of ionic copper and amino acids
    • Chutkow JG (1978) Evidence for uptake of nonceruloplas-minic copper in the brain: Effect of ionic copper and amino acids. Proc Soc Exp Biol Med 158, 113-116. (Pubitemid 8375724)
    • (1978) Proceedings of the Society for Experimental Biology and Medicine , vol.158 , Issue.1 , pp. 113-116
    • Chutkow, J.G.1
  • 10
    • 57649158930 scopus 로고    scopus 로고
    • Copper transportto the brain by the blood-brain barrier and blood-CSF barrier
    • Choi BS, Zheng W (2009) Copper transportto the brain by the blood-brain barrier and blood-CSF barrier. Brain Res 1248, 14-21.
    • (2009) Brain Res , vol.1248 , pp. 14-21
    • Choi, B.S.1    Zheng, W.2
  • 11
    • 0023830814 scopus 로고
    • 67copper by two ligand-dependent saturable processes. A high affinity, low capacity and a low affinity, high capacity process
    • Hartter DE, Barnea A (1988) Brain tissue accumulates 67cop-per by two ligand-dependent saturable processes. A high affinity, low capacity and a low affinity, high capacity process. J Biol Chem 263, 799-805. (Pubitemid 18044707)
    • (1988) Journal of Biological Chemistry , vol.263 , Issue.2 , pp. 799-805
    • Hartter, D.E.1    Barnea, A.2
  • 13
    • 15744368246 scopus 로고    scopus 로고
    • Intermed Medical Publishers Amsterdam/Rotterdam
    • Hoogenraad T (2001) Wilson's disease, Intermed Medical Publishers Amsterdam/Rotterdam.
    • (2001) Wilson's Disease
    • Hoogenraad, T.1
  • 14
    • 0037350153 scopus 로고    scopus 로고
    • Wilson's disease: The importance of measuring serum caeruloplasmin non-immunologically
    • DOI 10.1258/000456303763046021
    • Walshe JM (2003) Wilson's disease: The importance of measuring serum caeruloplasmin non-immunologically. Ann Clin Biochem 40, 115-121. (Pubitemid 36359861)
    • (2003) Annals of Clinical Biochemistry , vol.40 , Issue.2 , pp. 115-121
    • Walshe, J.M.1
  • 19
    • 34548336583 scopus 로고    scopus 로고
    • Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers
    • DOI 10.1373/clinchem.2007.086066
    • Gupta A, Maulik M, Nasipuri P, Chattopadhyay I, Das SK, Gangopadhyay PK, Ray K (2007) Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers. Clin Chem 53, 1601-1608. (Pubitemid 47340055)
    • (2007) Clinical Chemistry , vol.53 , Issue.9 , pp. 1601-1608
    • Gupta, A.1    Maulik, M.2    Nasipuri, P.3    Chattopadhyay, I.4    Das, S.K.5    Gangopadhyay, P.K.6    Ray, K.7
  • 23
    • 0021271971 scopus 로고
    • Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA work group under the auspices of Department of Health and Human Services Task Force on Alzheimer's disease
    • McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of department of health and human services task force on Alzheimer's disease. Neurology 34, 939-944. (Pubitemid 14076461)
    • (1984) Neurology , vol.34 , Issue.7 , pp. 939-944
    • McKhann, G.1    Drachman, D.2    Folstein, M.3
  • 25
    • 0016823810 scopus 로고
    • "mini-mental state". A practical method for grading the cognitive state of patients for the clinician
    • Folstein MF, Folstein SE, McHugh PR (1975) "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12, 189-198.
    • (1975) J Psychiatr Res , vol.12 , pp. 189-198
    • Folstein, M.F.1    Folstein, S.E.2    McHugh, P.R.3
  • 26
    • 0025257612 scopus 로고
    • Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI
    • Hixson JE, Vernier DT (1990) Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 31, 545-548. (Pubitemid 20107994)
    • (1990) Journal of Lipid Research , vol.31 , Issue.3 , pp. 545-548
    • Hixson, J.E.1    Vernier, D.T.2
  • 27
    • 44149127481 scopus 로고    scopus 로고
    • PGA: Power calculator for case-control genetic association analyses
    • Menashe I, Rosenberg PS, Chen BE (2008) PGA: Power calculator for case-control genetic association analyses. BMC Genet 9, 36.
    • (2008) BMC Genet , vol.9 , pp. 36
    • Menashe, I.1    Rosenberg, P.S.2    Chen, B.E.3
  • 28
    • 33747827929 scopus 로고    scopus 로고
    • SNPStats: A web tool for the analysis of association studies
    • DOI 10.1093/bioinformatics/btl268
    • Sole X, Guino E, Valls J, Iniesta R, Moreno V (2006) SNPStats: A web tool for the analysis of association studies. Bioinformatics 22, 1928-1929. (Pubitemid 44283043)
    • (2006) Bioinformatics , vol.22 , Issue.15 , pp. 1928-1929
    • Sole, X.1    Guino, E.2    Valls, J.3    Iniesta, R.4    Moreno, V.5
  • 29
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • DOI 10.1093/bioinformatics/bth457
    • Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265. (Pubitemid 40202029)
    • (2005) Bioinformatics , vol.21 , Issue.2 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 30
    • 46749100924 scopus 로고    scopus 로고
    • Therapeutics for Alzheimer's Disease Based on the Metal Hypothesis
    • DOI 10.1016/j.nurt.2008.05.001, PII S1933721308000901
    • Bush AI, Tanzi RE (2008) Therapeutics for Alzheimer's disease based on the metal hypothesis. Neurotherapeutics 5, 421-432. (Pubitemid 351952485)
    • (2008) Neurotherapeutics , vol.5 , Issue.3 , pp. 421-432
    • Bush, A.I.1    Tanzi, R.E.2
  • 33
    • 62449128087 scopus 로고    scopus 로고
    • Ceruloplasmin fragmentation is implicated in 'free' copper deregulation of Alzheimer's disease
    • Squitti R, Quattrocchi CC, Salustri C, Rossini PM (2008) Ceruloplasmin fragmentation is implicated in 'free' copper deregulation of Alzheimer's disease. Prion 2, 23-27.
    • (2008) Prion , vol.2 , pp. 23-27
    • Squitti, R.1    Quattrocchi, C.C.2    Salustri, C.3    Rossini, P.M.4
  • 34
    • 79959865244 scopus 로고    scopus 로고
    • Association studies for next-generation sequencing
    • Luo L, Boerwinkle E, Xiong M (2011) Association studies for next-generation sequencing. Genome Res 21, 1099-1108.
    • (2011) Genome Res , vol.21 , pp. 1099-1108
    • Luo, L.1    Boerwinkle, E.2    Xiong, M.3
  • 35
    • 77949497074 scopus 로고    scopus 로고
    • Bioinformatics challenges for genome-wide association studies
    • Moore JH, Asselbergs FW, Williams SM (2010) Bioinformatics challenges for genome-wide association studies. Bioinformatics 26, 445-455.
    • (2010) Bioinformatics , vol.26 , pp. 445-455
    • Moore, J.H.1    Asselbergs, F.W.2    Williams, S.M.3
  • 36
    • 69449103972 scopus 로고    scopus 로고
    • Epistasis and its implications for personal genetics
    • Moore JH, Williams SM (2009) Epistasis and its implications for personal genetics. Am J Hum Genet 85, 309-320.
    • (2009) Am J Hum Genet , vol.85 , pp. 309-320
    • Moore, J.H.1    Williams, S.M.2
  • 37
    • 77951569835 scopus 로고    scopus 로고
    • The risks of copper toxicity contributing to cognitive decline in the aging population and to Alzheimer's disease
    • Brewer GJ (2009) The risks of copper toxicity contributing to cognitive decline in the aging population and to Alzheimer's disease. J Am Coll Nutr 28, 238-242.
    • (2009) J Am Coll Nutr , vol.28 , pp. 238-242
    • Brewer, G.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.