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Volumn 25, Issue 3, 1998, Pages 192-196

Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; DNA;

EID: 0031854283     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100034004     Document Type: Article
Times cited : (60)

References (26)
  • 1
    • 0021809173 scopus 로고
    • Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology, and ethical issues in management
    • Tandan R, Bradley WG. Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology, and ethical issues in management. Ann Neurol 1985; 18: 271-280.
    • (1985) Ann Neurol , vol.18 , pp. 271-280
    • Tandan, R.1    Bradley, W.G.2
  • 2
    • 0022398244 scopus 로고
    • Amyotrophic lateral sclerosis: Part 2. Etiopathogenesis
    • Tandan R, Bradley WG. Amyotrophic lateral sclerosis: Part 2. Etiopathogenesis. Ann Neurol 1985; 18: 419-431.
    • (1985) Ann Neurol , vol.18 , pp. 419-431
    • Tandan, R.1    Bradley, W.G.2
  • 3
    • 0022443737 scopus 로고
    • Familial adult motor neuron disease: Amyotrophic lateral sclerosis
    • Mulder DS, Kurland LT, Offord KP, Beard CM. Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology 1986; 36: 511-517
    • (1986) Neurology , vol.36 , pp. 511-517
    • Mulder, D.S.1    Kurland, L.T.2    Offord, K.P.3    Beard, C.M.4
  • 4
    • 0028334717 scopus 로고
    • Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35
    • Hentati A, et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet 1994; 7: 425-428.
    • (1994) Nat Genet , vol.7 , pp. 425-428
    • Hentati, A.1
  • 5
    • 0029010496 scopus 로고
    • Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase
    • Andersen PM, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 1995; 10: 61-66.
    • (1995) Nat Genet , vol.10 , pp. 61-66
    • Andersen, P.M.1
  • 6
    • 0028343223 scopus 로고
    • A frequent ala 4 to val Superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis
    • Rosen DR, et al. A frequent ala 4 to val Superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 981-987.
    • (1994) Hum Mol Genet , vol.3 , pp. 981-987
    • Rosen, D.R.1
  • 7
    • 12044249765 scopus 로고
    • Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity
    • Siddique T, et al. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med 1991; 324: 1381-1384.
    • (1991) N Engl J Med , vol.324 , pp. 1381-1384
    • Siddique, T.1
  • 8
    • 0029810307 scopus 로고    scopus 로고
    • Genetics of amyotrophic lateral sclerosis
    • Siddique T, Deng HX. Genetics of amyotrophic lateral sclerosis. Hum Mol Genet 1996: 1465-1470.
    • (1996) Hum Mol Genet , pp. 1465-1470
    • Siddique, T.1    Deng, H.X.2
  • 9
    • 9544236295 scopus 로고    scopus 로고
    • Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients
    • Andersen PM, et al. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 1996; 119: 1153-1172.
    • (1996) Brain , vol.119 , pp. 1153-1172
    • Andersen, P.M.1
  • 10
    • 0028284779 scopus 로고
    • Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
    • Gurney ME, et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 1994; 264: 1772-1775.
    • (1994) Science , vol.264 , pp. 1772-1775
    • Gurney, M.E.1
  • 11
    • 10244256425 scopus 로고    scopus 로고
    • Mechanisms of selective motor neuron death in transgenic mouse models of motor neuron disease
    • discussion S61-S62
    • Cleveland DW, et al. Mechanisms of selective motor neuron death in transgenic mouse models of motor neuron disease. Neurology 1996; 47: S54-S61; discussion S61-S62.
    • (1996) Neurology , vol.47
    • Cleveland, D.W.1
  • 12
    • 0030887622 scopus 로고    scopus 로고
    • Midbrain dopaminergic neuronal degeneration in a transgenic mouse model of familial amyotrophic lateral sclerosis
    • Kostic V, et al. Midbrain dopaminergic neuronal degeneration in a transgenic mouse model of familial amyotrophic lateral sclerosis. Ann Neurol 1997; 41: 497-504.
    • (1997) Ann Neurol , vol.41 , pp. 497-504
    • Kostic, V.1
  • 13
    • 0028142392 scopus 로고
    • El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis
    • Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors
    • Brooks BR,. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors. J Neurol Sci 1994; 124: S96-S107.
    • (1994) J Neurol Sci , vol.124
    • Brooks, B.R.1
  • 14
    • 0029036463 scopus 로고
    • An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4
    • Yulug IG, Katsanis N, de Belleroche J, Collinge J, Fisher EM. An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4. Hum Mol Genet 1995; 4: 1101-1104.
    • (1995) Hum Mol Genet , vol.4 , pp. 1101-1104
    • Yulug, I.G.1    Katsanis, N.2    De Belleroche, J.3    Collinge, J.4    Fisher, E.M.5
  • 15
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis of single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis of single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989; 86: 2766-2770.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 16
    • 0026755548 scopus 로고
    • Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human omithine delta-aminotransferase gene
    • Michaud J, et al. Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human omithine delta-aminotransferase gene. Genomics 1992; 13: 389-394.
    • (1992) Genomics , vol.13 , pp. 389-394
    • Michaud, J.1
  • 17
    • 0025366384 scopus 로고
    • Direct DNA sequencing of PCR amplified genomic DNA by the Maxam-Gilbert method
    • Tahara T, Kraus JP, Rosenberg LE. Direct DNA sequencing of PCR amplified genomic DNA by the Maxam-Gilbert method. Biotechniques. 1990; 8: 366-368.
    • (1990) Biotechniques. , vol.8 , pp. 366-368
    • Tahara, T.1    Kraus, J.P.2    Rosenberg, L.E.3
  • 18
    • 0025372718 scopus 로고
    • Rapid and reliable protocol for direct sequencing of material amplified by the polymerase chain reaction
    • Kusukawa N, Uemori T, Asada K, Kato I. Rapid and reliable protocol for direct sequencing of material amplified by the polymerase chain reaction. Biotechniques 1990; 9: 66-72.
    • (1990) Biotechniques , vol.9 , pp. 66-72
    • Kusukawa, N.1    Uemori, T.2    Asada, K.3    Kato, I.4
  • 19
    • 0026744704 scopus 로고
    • Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences
    • Brody LC, et al. Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. J Biol Chem 1992; 267: 3302-3307.
    • (1992) J Biol Chem , vol.267 , pp. 3302-3307
    • Brody, L.C.1
  • 20
    • 0027401203 scopus 로고
    • Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    • Rosen DR, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362: 59-62.
    • (1993) Nature , vol.362 , pp. 59-62
    • Rosen, D.R.1
  • 21
    • 0027426169 scopus 로고
    • Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase
    • Deng HX, et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 1993; 261: 1047-1051.
    • (1993) Science , vol.261 , pp. 1047-1051
    • Deng, H.X.1
  • 22
    • 0028918944 scopus 로고
    • Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
    • Pramatarova A, et al. Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet 1995; 56: 592-596.
    • (1995) Am J Hum Genet , vol.56 , pp. 592-596
    • Pramatarova, A.1
  • 23
    • 0028273306 scopus 로고
    • Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ilel13Thr in three others
    • Jones CT, Swingler RJ, Brock DJ. Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ilel13Thr in three others. Hum Mol Genet 1994; 3: 649-650.
    • (1994) Hum Mol Genet , vol.3 , pp. 649-650
    • Jones, C.T.1    Swingler, R.J.2    Brock, D.J.3
  • 24
    • 0025288214 scopus 로고
    • Hippocampal zinc thionein and pyridoxal phosphate modulate synaptic functions
    • Ebadi M, Murrin LC, Pfeiffer RF. Hippocampal zinc thionein and pyridoxal phosphate modulate synaptic functions. Ann NY Acad Sci. 1990; 585: 189-201.
    • (1990) Ann NY Acad Sci. , vol.585 , pp. 189-201
    • Ebadi, M.1    Murrin, L.C.2    Pfeiffer, R.F.3
  • 25
    • 0023833925 scopus 로고
    • Zinc neurotoxicity in cortical cell culture
    • Choi DW, Yokayama M, Koh J. Zinc neurotoxicity in cortical cell culture. Neuroscience 1988; 24: 67-79.
    • (1988) Neuroscience , vol.24 , pp. 67-79
    • Choi, D.W.1    Yokayama, M.2    Koh, J.3
  • 26
    • 0026605345 scopus 로고
    • Zinc, a neurotoxin to cultured neurons, contaminates cycad flour prepared by traditional guamanian methods
    • Duncan MW, Marini AM, Watters R, Kopin IJ, Markey SP. Zinc, a neurotoxin to cultured neurons, contaminates cycad flour prepared by traditional guamanian methods. J Neurosci 1992; 12: 1523-1537.
    • (1992) J Neurosci , vol.12 , pp. 1523-1537
    • Duncan, M.W.1    Marini, A.M.2    Watters, R.3    Kopin, I.J.4    Markey, S.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.