메뉴 건너뛰기




Volumn 24, Issue 5, 2004, Pages 408-416

A paradigm for single nucleotide polymorphism analysis: The case of the acetylcholinesterase gene

Author keywords

Acetylcholinesterase; ACHE; Adverse drug reaction; Alzheimer disease; SNP

Indexed keywords

ACETYLCHOLINESTERASE;

EID: 8144226101     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20106     Document Type: Article
Times cited : (24)

References (40)
  • 1
    • 0027517150 scopus 로고
    • Mutation at codon 322 in the Human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism
    • Bartels CF, Zelinski T, Lockridge O. 1993. Mutation at codon 322 in the Human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism. Am J Hum Genet 52:928-936.
    • (1993) Am J Hum Genet , vol.52 , pp. 928-936
    • Bartels, C.F.1    Zelinski, T.2    Lockridge, O.3
  • 2
    • 0035829361 scopus 로고    scopus 로고
    • Controlling the false discovery rate in behavior genetics research
    • Benjamini Y, Drai D, Elmer G, Kafkafi N, Golani I. 2001. Controlling the false discovery rate in behavior genetics research. Behav Brain Res 125:279-284.
    • (2001) Behav Brain Res , vol.125 , pp. 279-284
    • Benjamini, Y.1    Drai, D.2    Elmer, G.3    Kafkafi, N.4    Golani, I.5
  • 3
    • 0242266952 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A
    • Bercovich D, Beaudet AL. 2003. Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A. Genet Test 7:189-194.
    • (2003) Genet Test , vol.7 , pp. 189-194
    • Bercovich, D.1    Beaudet, A.L.2
  • 5
    • 0033613931 scopus 로고    scopus 로고
    • Crystal structure of mouse acetylcholinesterase. A peripheral site-occluding loop in a tetrameric assembly
    • Bourne Y, Taylor P, Bougis PE, Marchot P. 1999. Crystal structure of mouse acetylcholinesterase. A peripheral site-occluding loop in a tetrameric assembly. J Biol Chem 274:2963-2970.
    • (1999) J Biol Chem , vol.274 , pp. 2963-2970
    • Bourne, Y.1    Taylor, P.2    Bougis, P.E.3    Marchot, P.4
  • 6
    • 0037308205 scopus 로고    scopus 로고
    • The role of readthrough acetylcholinesterase in the pathophysiology of myasthenia gravis
    • Brenner T, Hamra-Amitay Y, Evron T, Boneva N, Seidman S, Soreq H. 2003. The role of readthrough acetylcholinesterase in the pathophysiology of myasthenia gravis. FASEB J 17:214-222.
    • (2003) FASEB J , vol.17 , pp. 214-222
    • Brenner, T.1    Hamra-Amitay, Y.2    Evron, T.3    Boneva, N.4    Seidman, S.5    Soreq, H.6
  • 8
    • 0037087761 scopus 로고    scopus 로고
    • STAT6 as an asthma candidate gene: Polymorphism-screening, association and haplotype analysis in a Caucasian sib-pair study
    • Duetsch G, Illig T, Loesgen S, Rohde K, Klopp N, Herbon N, Gohlke H, Altmueller J, Wjst M. 2002. STAT6 as an asthma candidate gene: polymorphism-screening, association and haplotype analysis in a Caucasian sib-pair study. Hum Mol Genet 11:613-621.
    • (2002) Hum Mol Genet , vol.11 , pp. 613-621
    • Duetsch, G.1    Illig, T.2    Loesgen, S.3    Rohde, K.4    Klopp, N.5    Herbon, N.6    Gohlke, H.7    Altmueller, J.8    Wjst, M.9
  • 9
    • 0027991322 scopus 로고
    • Population diversity and distinct haplotype frequencies associated with ACHE and BCHE genes of Israeli Jews from trans-Caucasian Georgia and from Europe
    • Ehrlich G, Ginzberg D, Loewenstein Y, Glick D, Kerem B, Ben-Ari S, Zakut H, Soreq H. 1994. Population diversity and distinct haplotype frequencies associated with ACHE and BCHE genes of Israeli Jews from trans-Caucasian Georgia and from Europe. Genomics 22:288-295.
    • (1994) Genomics , vol.22 , pp. 288-295
    • Ehrlich, G.1    Ginzberg, D.2    Loewenstein, Y.3    Glick, D.4    Kerem, B.5    Ben-Ari, S.6    Zakut, H.7    Soreq, H.8
  • 13
    • 0001885399 scopus 로고    scopus 로고
    • Cholinesterase inhibitors: From the Calabar bean to Alzheimer therapy
    • Giacobini E, editor. London: Martin Dunitz
    • Giacobini E. 2000. Cholinesterase inhibitors: from the Calabar bean to Alzheimer therapy. In: Giacobini E, editor. Cholinesterases and cholinesterase inhibitors. London: Martin Dunitz. p 181-226.
    • (2000) Cholinesterases and Cholinesterase Inhibitors , pp. 181-226
    • Giacobini, E.1
  • 14
    • 0642309501 scopus 로고    scopus 로고
    • Acetylcholinesterase: A multifaceted target for structure-based drug design of anticholinesterase agents for the treatment of Alzheimer's disease
    • Greenblatt HM, Dvir H, Silman I, Sussman JL. 2003. Acetylcholinesterase: a multifaceted target for structure-based drug design of anticholinesterase agents for the treatment of Alzheimer's disease. J Mol Neurosci 20:369-383.
    • (2003) J Mol Neurosci , vol.20 , pp. 369-383
    • Greenblatt, H.M.1    Dvir, H.2    Silman, I.3    Sussman, J.L.4
  • 15
    • 0034104866 scopus 로고    scopus 로고
    • Extraneuronal cholinergic system in lymphocytes
    • Kawashima K, Fujii T. 2000. Extraneuronal cholinergic system in lymphocytes. Pharmacol Ther 86:29-48.
    • (2000) Pharmacol Ther , vol.86 , pp. 29-48
    • Kawashima, K.1    Fujii, T.2
  • 16
    • 0037208892 scopus 로고    scopus 로고
    • Common variations in noncoding regions of the human natriuretic peptide receptor A gene have quantitative effects
    • Knowles JW, Erickson LM, Guy VK, Sigel CS, Wilder JC, Maeda N. 2003. Common variations in noncoding regions of the human natriuretic peptide receptor A gene have quantitative effects. Hum Genet 112:62-70.
    • (2003) Hum Genet , vol.112 , pp. 62-70
    • Knowles, J.W.1    Erickson, L.M.2    Guy, V.K.3    Sigel, C.S.4    Wilder, J.C.5    Maeda, N.6
  • 19
    • 0031009676 scopus 로고    scopus 로고
    • Immature human megakaryocytes produce nuclear-associated acetylcholinesterase
    • Lev-Lehman E, Deutsch V, Eldor A, Soreq H. 1997. Immature human megakaryocytes produce nuclear-associated acetylcholinesterase. Blood 89:3644-3653.
    • (1997) Blood , vol.89 , pp. 3644-3653
    • Lev-Lehman, E.1    Deutsch, V.2    Eldor, A.3    Soreq, H.4
  • 20
    • 0026335386 scopus 로고
    • Gene structure of mammalian acetylcholinesterase. Alternative exons dictate tissue-specific expression
    • Li Y, Camp S, Rachinsky TL, Getman D, Taylor P. 1991. Gene structure of mammalian acetylcholinesterase. Alternative exons dictate tissue-specific expression. J Biol Chem 266:23083-23090.
    • (1991) J Biol Chem , vol.266 , pp. 23083-23090
    • Li, Y.1    Camp, S.2    Rachinsky, T.L.3    Getman, D.4    Taylor, P.5
  • 21
    • 0033038088 scopus 로고    scopus 로고
    • The polymorphism of acetylcholinesterase: Posttranslational processing, quaternary associations and localization
    • Massoulié J, Anselmet A, Bon S, Krejci E, Legay C, Morel N, Simon S. 1999. The polymorphism of acetylcholinesterase: posttranslational processing, quaternary associations and localization. Chem Biol Interact 119-120:29-42.
    • (1999) Chem Biol Interact , vol.119-120 , pp. 29-42
    • Massoulié, J.1    Anselmet, A.2    Bon, S.3    Krejci, E.4    Legay, C.5    Morel, N.6    Simon, S.7
  • 22
    • 0037369507 scopus 로고    scopus 로고
    • Drugs targeting Alzheimer's disease: Some things old and some things new
    • Michaelis ML. 2003. Drugs targeting Alzheimer's disease: some things old and some things new. J Pharmacol Exp Ther 304:897-904.
    • (2003) J Pharmacol Exp Ther , vol.304 , pp. 897-904
    • Michaelis, M.L.1
  • 24
    • 0029339936 scopus 로고
    • How neutral are synonymous codon mutations?
    • Richard I, Beckmann JS. 1995. How neutral are synonymous codon mutations? Nat Genet 10:259.
    • (1995) Nat Genet , vol.10 , pp. 259
    • Richard, I.1    Beckmann, J.S.2
  • 25
    • 0027265211 scopus 로고
    • An electrostatic mechanism for substrate guidance down the aromatic gorge of acetylcholinesterase
    • Ripoll DR, Faerman CH, Axelsen PH, Silman I, Sussman JL. 1993. An electrostatic mechanism for substrate guidance down the aromatic gorge of acetylcholinesterase. Proc Natl Acad Sci USA 90:5128-5132.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 5128-5132
    • Ripoll, D.R.1    Faerman, C.H.2    Axelsen, P.H.3    Silman, I.4    Sussman, J.L.5
  • 26
    • 0042020173 scopus 로고    scopus 로고
    • Treatment of Alzheimer's disease: Current status and new perspectives
    • Scarpini E, Schaltens P, Feldman H. 2003. Treatment of Alzheimer's disease: current status and new perspectives. Lancet Neurol 2:539-547.
    • (2003) Lancet Neurol , vol.2 , pp. 539-547
    • Scarpini, E.1    Schaltens, P.2    Feldman, H.3
  • 27
    • 0029004391 scopus 로고
    • Synaptic and epidermal accumulations of human acetylcholinesterase are encoded by alternative 3′-terminal exons
    • Seidman S, Sternfeld M, Ben Aziz-Aloya R, Timberg R, Kaufer-Nachum D, Soreq H. 1995. Synaptic and epidermal accumulations of human acetylcholinesterase are encoded by alternative 3′-terminal exons. Mol Cell Biol 15:2993-3002.
    • (1995) Mol Cell Biol , vol.15 , pp. 2993-3002
    • Seidman, S.1    Sternfeld, M.2    Ben Aziz-Aloya, R.3    Timberg, R.4    Kaufer-Nachum, D.5    Soreq, H.6
  • 29
    • 0002524901 scopus 로고    scopus 로고
    • Structural studies on acetylcholinesterase
    • Giacobini E, editor. London: Martin Dunitz
    • Silman I, Sussman JL. 2000. Structural studies on acetylcholinesterase. In: Giacobini E, editor. Cholinesterases and cholinesterase inhibitors. London: Martin Dunitz. p 9-25.
    • (2000) Cholinesterases and Cholinesterase Inhibitors , pp. 9-25
    • Silman, I.1    Sussman, J.L.2
  • 30
    • 0035320772 scopus 로고    scopus 로고
    • Acetylcholinesterase - New roles for an old actor
    • Soreq H, Seidman S. 2001. Acetylcholinesterase - new roles for an old actor. Nat Rev Neurosci 2:294-302.
    • (2001) Nat Rev Neurosci , vol.2 , pp. 294-302
    • Soreq, H.1    Seidman, S.2
  • 31
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • Stephens M, Smith NJ, Donnelly P. 2001. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989.
    • (2001) Am J Hum Genet , vol.68 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 32
    • 0032520131 scopus 로고    scopus 로고
    • Acetylcholinesterase enhances neurite growth and synapse development through alternative contributions of its hydrolytic capacity, core protein, and variable C termini
    • Sternfeld M, Ming G, Song H, Sela K, Timberg R, Poo M, Soreq H. 1998. Acetylcholinesterase enhances neurite growth and synapse development through alternative contributions of its hydrolytic capacity, core protein, and variable C termini. J Neurosci 18:1240-1249.
    • (1998) J Neurosci , vol.18 , pp. 1240-1249
    • Sternfeld, M.1    Ming, G.2    Song, H.3    Sela, K.4    Timberg, R.5    Poo, M.6    Soreq, H.7
  • 33
    • 0025778840 scopus 로고
    • Atomic structure of acetylcholinesterase from Torpedo californica: A prototypic acetylcholine-binding protein
    • Sussman JL, Harel M, Frolow F, Oefner C, Goldman A, Toker L, Silman I. 1991. Atomic structure of acetylcholinesterase from Torpedo californica: a prototypic acetylcholine-binding protein. Science 253:872-879.
    • (1991) Science , vol.253 , pp. 872-879
    • Sussman, J.L.1    Harel, M.2    Frolow, F.3    Oefner, C.4    Goldman, A.5    Toker, L.6    Silman, I.7
  • 34
    • 0034806090 scopus 로고    scopus 로고
    • Acetylcholinesterase in Alzheimer's disease
    • Talesa VN. 2001. Acetylcholinesterase in Alzheimer's disease. Mech Ageing Dev 122:1961-1969.
    • (2001) Mech Ageing Dev , vol.122 , pp. 1961-1969
    • Talesa, V.N.1
  • 36
    • 1542577828 scopus 로고    scopus 로고
    • The amino-acid mutational spectrum of human genetic disease
    • Vitkup D, Sander C, Church GM. 2003. The amino-acid mutational spectrum of human genetic disease. Genome Biol 4:R72.
    • (2003) Genome Biol , vol.4
    • Vitkup, D.1    Sander, C.2    Church, G.M.3
  • 37
    • 0035065485 scopus 로고    scopus 로고
    • SNPs, protein structure, and disease
    • Wang Z, Moult J. 2001. SNPs, protein structure, and disease. Hum Mutat 17:263-270.
    • (2001) Hum Mutat , vol.17 , pp. 263-270
    • Wang, Z.1    Moult, J.2
  • 40
    • 0036778361 scopus 로고    scopus 로고
    • MECP2 mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome
    • Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A. 2002. MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. Hum Mutat 20:323-324.
    • (2002) Hum Mutat , vol.20 , pp. 323-324
    • Yaron, Y.1    Ben Zeev, B.2    Shomrat, R.3    Bercovich, D.4    Naiman, T.5    Orr-Urtreger, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.