메뉴 건너뛰기




Volumn 4, Issue 2, 2003, Pages 62-73

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: A decade of discoveries, defects and disputes

Author keywords

Amyotrophic lateral sclerosis; Gain of function; Motor neuron disease SOD1 mutation

Indexed keywords

ARGININE; ASPARTIC ACID; COPPER ZINC SUPEROXIDE DISMUTASE; CYSTEINE; GLUTAMINE; GLYCINE; HISTIDINE; ISOLEUCINE; LEUCINE; METHIONINE; PHENYLALANINE; SERINE; THREONINE; VALINE;

EID: 0038446777     PISSN: 14660822     EISSN: None     Source Type: Journal    
DOI: 10.1080/14660820310011700     Document Type: Review
Times cited : (258)

References (86)
  • 1
    • 0027401203 scopus 로고
    • Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    • Rosen DR, Siddique T, Patterson D 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    Siddique, T.2    Patterson, D.3
  • 2
    • 0001477869 scopus 로고    scopus 로고
    • Genetics of amyotrophic lateral sclerosis: An overview
    • edited by RH Brown Jr, V Meininger and M Swash. Martin Dunitz Publishers Ltd, London
    • Andersen PM, Morita M, Brown RH, Jr. Genetics of amyotrophic lateral sclerosis: an overview, pp223-250. In: Amyotrophic Lateral Sclerosis, edited by RH Brown Jr, V Meininger and M Swash. Martin Dunitz Publishers Ltd, London, 1999.
    • (1999) Amyotrophic Lateral Sclerosis , pp. 223-250
    • Andersen, P.M.1    Morita, M.2    Brown R.H., Jr.3
  • 3
    • 0030749160 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in MND-patients with Cu/Zn superoxide dismutase mutations in Scandinavia
    • Andersen PM, Nilsson P, Keränen M-L et al. Phenotypic heterogeneity in MND-patients with Cu/Zn superoxide dismutase mutations in Scandinavia. Brain 1997; 10: 1723-1737.
    • (1997) Brain , vol.10 , pp. 1723-1737
    • Andersen, P.M.1    Nilsson, P.2    Keränen, M.-L.3
  • 4
    • 0031057003 scopus 로고    scopus 로고
    • Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
    • Cudkowicz ME, McKenna-Yusen D, Asp PE et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997; 2: 210-221.
    • (1997) Ann. Neurol. , vol.2 , pp. 210-221
    • Cudkowicz, M.E.1    McKenna-Yusen, D.2    Asp, P.E.3
  • 5
    • 0031936175 scopus 로고    scopus 로고
    • Mutations in all five exons of SOD1 may cause ALS
    • Shaw CE, Enayat ZE, Chioza BA et al. Mutations in all five exons of SOD1 may cause ALS. Ann Neurol 1998; 43: 390-394.
    • (1998) Ann. Neurol. , vol.43 , pp. 390-394
    • Shaw, C.E.1    Enayat, Z.E.2    Chioza, B.A.3
  • 6
    • 0031854283 scopus 로고    scopus 로고
    • Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis
    • Boukaftane Y, Khoris J, Moulard B et al. Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis. Can J Neurol Sci 1998; 25: 192-196.
    • (1998) Can. J. Neurol. Sci. , vol.25 , pp. 192-196
    • Boukaftane, Y.1    Khoris, J.2    Moulard, B.3
  • 7
    • 0028916910 scopus 로고
    • Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients
    • Jones CT, Swingler RJ, Simpson SA, Brock DJH. Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Genet 1995; 32: 290-292.
    • (1995) J. Med. Genet. , vol.32 , pp. 290-292
    • Jones, C.T.1    Swingler, R.J.2    Simpson, S.A.3    Brock, D.J.H.4
  • 8
    • 0030780350 scopus 로고    scopus 로고
    • Cu/Zn superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of a novel insertion mutation
    • Jackson M, Al-Chalabi A, Enayat ZE et al. Cu/Zn superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Ann Neurol 1997; 42: 803-807.
    • (1997) Ann. Neurol. , vol.42 , pp. 803-807
    • Jackson, M.1    Al-Chalabi, A.2    Enayat, Z.E.3
  • 9
    • 0037971097 scopus 로고
    • On heredity in progressive muscular atrophy as illustrated in the Farr family of Vermont
    • Osler W. On heredity in progressive muscular atrophy as illustrated in the Farr family of Vermont. Arch Med 1880; 4: 316-320.
    • (1880) Arch. Med. , vol.4 , pp. 316-320
    • Osler, W.1
  • 10
    • 0036338710 scopus 로고    scopus 로고
    • Molecular analysis of the SOD1 gene in Spanish patients with sporadic or familial ALS
    • Garcia-Redondo A, Bustos F, Juan Y et al. Molecular analysis of the SOD1 gene in Spanish patients with sporadic or familial ALS. Muscle Nerve 2002; 26: 274-278.
    • (2002) Muscle Nerve , vol.26 , pp. 274-278
    • Garcia-Redondo, A.1    Bustos, F.2    Juan, Y.3
  • 11
    • 0028244477 scopus 로고
    • Identification of two mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis
    • Esteban J, Rosen DR, Bowling AC et al. Identification of two mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 997-998.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 997-998
    • Esteban, J.1    Rosen, D.R.2    Bowling, A.C.3
  • 12
    • 0032101171 scopus 로고    scopus 로고
    • Simple and defined method to detect SOD1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry
    • Nakanishi T, Kishikawa M, Miyazaki A et al. Simple and defined method to detect SOD1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry. J Neurosci Methods 1998; 81: 41-44.
    • (1998) J. Neurosci. Methods , vol.81 , pp. 41-44
    • Nakanishi, T.1    Kishikawa, M.2    Miyazaki, A.3
  • 13
    • 0028204413 scopus 로고
    • A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis
    • Nakano R, Sato S, Inuzuka T et al. A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. Bichem Biophys Res Com 1994; 200: 695-703.
    • (1994) Bichem. Biophys. Res. Com. , vol.200 , pp. 695-703
    • Nakano, R.1    Sato, S.2    Inuzuka, T.3
  • 14
    • 0027426169 scopus 로고
    • Amyotrophic lateral sclerosis and structural defects in Cu/Zn superoxide dismutase
    • Deng H-X, Hentati A, Tainer JA 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    Hentati, A.2    Tainer, J.A.3
  • 15
    • 0030052392 scopus 로고    scopus 로고
    • A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial ALS in Japan
    • Morita M, Aoki M, Abe K et al. A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial ALS in Japan. Neurosci Lett 1996; 205: 79-82.
    • (1996) Neurosci. Lett. , vol.205 , pp. 79-82
    • Morita, M.1    Aoki, M.2    Abe, K.3
  • 16
    • 0032749585 scopus 로고    scopus 로고
    • A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressing familial amyotrophic lateral sclerosis
    • Kohno S, Takahashi Y, Miyajima H et al. A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressing familial amyotrophic lateral sclerosis. Neurosci Lett 1999; 276: 135-137.
    • (1999) Neurosci. Lett. , vol.276 , pp. 135-137
    • Kohno, S.1    Takahashi, Y.2    Miyajima, H.3
  • 17
    • 0028132231 scopus 로고
    • A new variant Cu/Zn superoxide dismutase (Val7 Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis
    • Hirano M, Fujii J, Nagai Y et al. A new variant Cu/Zn superoxide dismutase (Val7 Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun 1994; 204: 572-577.
    • (1994) Biochem. Biophys. Res. Commun. , vol.204 , pp. 572-577
    • Hirano, M.1    Fujii, J.2    Nagai, Y.3
  • 18
    • 0030993978 scopus 로고    scopus 로고
    • A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis
    • Bereznai B, Winkler A, Borasio GD, Gasser T. A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. Neuromusc Disord 1997; 7: 113-116.
    • (1997) Neuromusc. Disord. , vol.7 , pp. 113-116
    • Bereznai, B.1    Winkler, A.2    Borasio, G.D.3    Gasser, T.4
  • 19
    • 0037437678 scopus 로고    scopus 로고
    • A novel SOD1 gene mutation in Korean patients with slowly progressive familial ALS
    • Kim NH, Kim HJ, Kim M, Lee KW. A novel SOD1 gene mutation in Korean patients with slowly progressive familial ALS. J Neurol Sci 2003; 206: 65-69.
    • (2003) J. Neurol. Sci. , vol.206 , pp. 65-69
    • Kim, N.H.1    Kim, H.J.2    Kim, M.3    Lee, K.W.4
  • 20
    • 0033595217 scopus 로고    scopus 로고
    • A SOD1 gene mutation in a patient with slowly progressive familial ALS
    • Penco S, Schjenone A, Bordo D et al. A SOD1 gene mutation in a patient with slowly progressive familial ALS. Neurology 1999; 53: 404-406.
    • (1999) Neurology , vol.53 , pp. 404-406
    • Penco, S.1    Schjenone, A.2    Bordo, D.3
  • 21
    • 0029003428 scopus 로고
    • Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis
    • Deng H-X, Tainer JA, Mitsumoto H et al. Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 1113-1116.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1113-1116
    • Deng, H.-X.1    Tainer, J.A.2    Mitsumoto, H.3
  • 23
    • 0030961866 scopus 로고    scopus 로고
    • Novel G16S (GGCAGC) mutation in the SOD1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis
    • Kawamata J, Shimohama S, Takano S et al. Novel G16S (GGCAGC) mutation in the SOD1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis. Hum Mutation 1997; 9: 356-358.
    • (1997) Hum. Mutation , vol.9 , pp. 356-358
    • Kawamata, J.1    Shimohama, S.2    Takano, S.3
  • 24
    • 0038647347 scopus 로고    scopus 로고
    • Personal communication
    • Chio A. Personal communication, 2002.
    • (2002)
    • Chio, A.1
  • 25
    • 0028273306 scopus 로고
    • Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others
    • Jones CT, Swingler RJ, Brock DJH. Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr 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.H.3
  • 26
    • 0035036119 scopus 로고    scopus 로고
    • Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: Identification of three novel missense mutations
    • Gellera C, Castelotti B, Riggio MC et al. Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations. Neuromusc Disord 2001; 11: 404-410.
    • (2001) Neuromusc. Disord. , vol.11 , pp. 404-410
    • Gellera, C.1    Castelotti, B.2    Riggio, M.C.3
  • 27
    • 0027452090 scopus 로고
    • Mild ALS in Japan associated with a novel SOD mutation
    • Aoki M, Ogasawara M, Matsubara Y et al. Mild ALS in Japan associated with a novel SOD mutation. Nat Genet 1993; 5: 323-324.
    • (1993) Nat. Genet. , vol.5 , pp. 323-324
    • Aoki, M.1    Ogasawara, M.2    Matsubara, Y.3
  • 28
    • 0029047111 scopus 로고
    • Two novel mutations in the gene for Cu/Zn superoxide dismutase in UK families with amyotrophic lateral sclerosis
    • Enayat ZE, Orrell RW, Claus A et al. Two novel mutations in the gene for Cu/Zn superoxide dismutase in UK families with amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 1239-1240.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1239-1240
    • Enayat, Z.E.1    Orrell, R.W.2    Claus, A.3
  • 29
    • 0031443762 scopus 로고    scopus 로고
    • Familial ALS is associated with mutations in all exons of SOD1: A novel mutation in exon 3 (Gly72Ser)
    • Orrell RW, Marklund SL, de Belleroche JS. Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). J Neurol Sci 1997; 153: 46-49.
    • (1997) J. Neurol. Sci. , vol.153 , pp. 46-49
    • Orrell, R.W.1    Marklund, S.L.2    de Belleroche, J.S.3
  • 31
    • 0036828798 scopus 로고    scopus 로고
    • "True" sporadic ALS associated with a novel SOD1 mutation
    • Alexander MD, Traynor , Miller N et al. "True" sporadic ALS associated with a novel SOD1 mutation. Ann Neurol 2002; 52: 680-683.
    • (2002) Ann. Neurol. , vol.52 , pp. 680-683
    • Alexander, M.D.1    Traynor, A.2    Miller, N.3
  • 32
    • 0029005002 scopus 로고
    • Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn Superoxide dismutase mutation
    • Aoki M, Abe K, Houi K et al. Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn Superoxide dismutase mutation. Ann Neurol 1995; 37: 676-679.
    • (1995) Ann. Neurol. , vol.37 , pp. 676-679
    • Aoki, M.1    Abe, K.2    Houi, K.3
  • 33
    • 0030792832 scopus 로고    scopus 로고
    • On intra-familial clinical diversities of a familial amyotrophic lateral sclerosis with a point mutation of Cu/Zn superoxide dismutase (Asn86-Ser)
    • Maeda T, Kurahashi K, Matsunaga M et al. On intra-familial clinical diversities of a familial amyotrophic lateral sclerosis with a point mutation of Cu/Zn superoxide dismutase (Asn86-Ser). No To Shinkei 1997; 49: 847-851.
    • (1997) No To Shinkei , vol.49 , pp. 847-851
    • Maeda, T.1    Kurahashi, K.2    Matsunaga, M.3
  • 34
    • 0034956740 scopus 로고    scopus 로고
    • Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without Cu/Zn superoxide dismutase mutations
    • Jacobsson J, Jonsson A, Andersen PM et al. Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without Cu/Zn superoxide dismutase mutations. Brain 2001; 124: 1461-1466.
    • (2001) Brain , vol.124 , pp. 1461-1466
    • Jacobsson, J.1    Jonsson, A.2    Andersen, P.M.3
  • 35
    • 0029010496 scopus 로고
    • Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn superoxide dismutase
    • Andersen PM, Nilsson P, Ala-Hurula V et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn superoxide dismutase. Nat Genet 1995; 10: 61-66.
    • (1995) Nat. Genet. , vol.10 , pp. 61-66
    • Andersen, P.M.1    Nilsson, P.2    Ala-Hurula, V.3
  • 36
    • 0031949024 scopus 로고    scopus 로고
    • A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS
    • Morita M, Abe K, Takahashi M et al. A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS. Eur J Neurol 1998; 5: 389-392.
    • (1998) Eur. J. Neurol. , vol.5 , pp. 389-392
    • Morita, M.1    Abe, K.2    Takahashi, M.3
  • 37
    • 0028123297 scopus 로고
    • Identification of a new missense mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD1) gene in a family with amyotrophic lateral sclerosis
    • Elshafey A, Lanyon WG, Connor JM. Identification of a new missense mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD1) gene in a family with amyotrophic lateral sclerosis. Hum Mol Genet 1994; 2: 363-364.
    • (1994) Hum. Mol. Genet. , vol.2 , pp. 363-364
    • Elshafey, A.1    Lanyon, W.G.2    Connor, J.M.3
  • 38
    • 0031458389 scopus 로고    scopus 로고
    • Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene
    • Kawata A, Kato S, Hayashi H, Hirai S. Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene. J Neurol Sci 1997; 153: 82-85.
    • (1997) J. Neurol. Sci. , vol.153 , pp. 82-85
    • Kawata, A.1    Kato, S.2    Hayashi, H.3    Hirai, S.4
  • 39
    • 0343537868 scopus 로고    scopus 로고
    • Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis
    • Hosler BA, Nicholson GA, Sapp PC et al. Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis. Neuromusc Disord 1996; 6: 361-366.
    • (1996) Neuromusc. Disord. , vol.6 , pp. 361-366
    • Hosler, B.A.1    Nicholson, G.A.2    Sapp, P.C.3
  • 40
    • 4244025717 scopus 로고    scopus 로고
    • Cu/Zn superoxide dismutase 1 and ALS: A population analysis
    • Traynor BJ, Corr B, Frost E et al. Cu/Zn superoxide dismutase 1 and ALS: a population analysis. J Neurology 1999; 246 Suppl. 1: S60.
    • (1999) J. Neurology , vol.246 , Issue.SUPPL. 1
    • Traynor, B.J.1    Corr, B.2    Frost, E.3
  • 41
    • 0035136084 scopus 로고    scopus 로고
    • Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family
    • Hand CK, Mayeux-Portas V, Khoris J et al. Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann Neurol 2001; 49: 267-271.
    • (2001) Ann. Neurol. , vol.49 , pp. 267-271
    • Hand, C.K.1    Mayeux-Portas, V.2    Khoris, J.3
  • 43
    • 0029036463 scopus 로고
    • An improved protocol for the analysis of SOD1 mutations, and a new mutation in exon 4
    • Yulug IG, Katsanis N, de Belleroche J et al. An improved protocol for the analysis of SOD1 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
  • 44
    • 0027944708 scopus 로고
    • Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient
    • Jones CT, Shaw PJ, Chari G, Brock DJH. Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. Mol Cellul Probes 1994; 8: 329-330.
    • (1994) Mol. Cellul. Probes , vol.8 , pp. 329-330
    • Jones, C.T.1    Shaw, P.J.2    Chari, G.3    Brock, D.J.H.4
  • 45
    • 0029983886 scopus 로고    scopus 로고
    • Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations
    • Abe K, Aoki M, Ikeda M et al. Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations. J Neurol Sci 1996; 136: 108-116.
    • (1996) J. Neurol. Sci. , vol.136 , pp. 108-116
    • Abe, K.1    Aoki, M.2    Ikeda, M.3
  • 46
    • 0037971088 scopus 로고    scopus 로고
    • personal communication
    • Andersen PM, personal communication, 2000.
    • (2000)
    • Andersen, P.M.1
  • 47
    • 0031027733 scopus 로고    scopus 로고
    • A novel mutation of SOD1 (Gly108Val) in familial amyotrophic lateral sclerosis
    • Orrell RW, Jabgood JJ, Shepherd DI et al. A novel mutation of SOD1 (Gly108Val) in familial amyotrophic lateral sclerosis. Eur J Neurol 1997; 4: 48-51.
    • (1997) Eur. J. Neurol. , vol.4 , pp. 48-51
    • Orrell, R.W.1    Jabgood, J.J.2    Shepherd, D.I.3
  • 48
    • 0028601342 scopus 로고
    • Autosomal dominant amyotrophic lateral sclerosis: A novel mutation in the Cu/Zn superoxide dismutase-1 gene
    • Kostrzewa M, Burck-Lehmann U, Müller U. Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. Hum Mol Genet 1994; 3: 2261-2262.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 2261-2262
    • Kostrzewa, M.1    Burck-Lehmann, U.2    Müller, U.3
  • 49
    • 0034636120 scopus 로고    scopus 로고
    • Autonomic failure in ALS with novel SOD1 gene mutation
    • Shimizu T, Kawata A, Kato S et al. Autonomic failure in ALS with novel SOD1 gene mutation. Neurology 2000; 54: 1534-1537.
    • (2000) Neurology , vol.54 , pp. 1534-1537
    • Shimizu, T.1    Kawata, A.2    Kato, S.3
  • 50
    • 0028067985 scopus 로고
    • A two basepair deletion in the SOD1 gene causes familial amyotrophic lateral sclerosis
    • Pramatarova A, Goto J, Nanba E et al. A two basepair deletion in the SOD1 gene causes familial amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 2061-2062.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 2061-2062
    • Pramatarova, A.1    Goto, J.2    Nanba, E.3
  • 51
    • 0035881980 scopus 로고    scopus 로고
    • A novel SOD1 gene mutation in familial ALS with low penetrance in females
    • Murakami T, Warita H, Hayashi T et al. A novel SOD1 gene mutation in familial ALS with low penetrance in females. J Neurol Sci 2001; 189: 45-47.
    • (2001) J. Neurol. Sci. , vol.189 , pp. 45-47
    • Murakami, T.1    Warita, H.2    Hayashi, T.3
  • 52
    • 0031128772 scopus 로고    scopus 로고
    • Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: Identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis
    • Zu JS, Deng H-X, Lo TP et al. Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis. Neurogenetics 1997; 1: 65-71.
    • (1997) Neurogenetics , vol.1 , pp. 65-71
    • Zu, J.S.1    Deng, H.-X.2    Lo, T.P.3
  • 53
    • 23544462828 scopus 로고    scopus 로고
    • Novel 4-bp insertion in the Cu/Zn superoxide dismutase (SOD1) gene associated with familial amyotrophic lateral sclerosis
    • Hansen C, Gredal O, Werdelin L et al. Novel 4-bp insertion in the Cu/Zn superoxide dismutase (SOD1) gene associated with familial amyotrophic lateral sclerosis. Hum Mutation 1998 Suppl. 1: S327-8.
    • (1998) Hum. Mutation , Issue.SUPPL. 1
    • Hansen, C.1    Gredal, O.2    Werdelin, L.3
  • 54
    • 0030945491 scopus 로고    scopus 로고
    • Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for Cu/Zn superoxide dismutase in UK families with amyotrophic lateral sclerosis
    • Orrell RW, Habgood JJ, Gardiner I et al. Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for Cu/Zn superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology 1997; 48: 746-751.
    • (1997) Neurology , vol.48 , pp. 746-751
    • Orrell, R.W.1    Habgood, J.J.2    Gardiner, I.3
  • 55
    • 16944364061 scopus 로고    scopus 로고
    • A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease
    • Watanabe M, Aoki M, Abe K et al. A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease. Hum Mutation 1997; 9: 69-71.
    • (1997) Hum. Mutation , vol.9 , pp. 69-71
    • Watanabe, M.1    Aoki, M.2    Abe, K.3
  • 56
    • 0038308360 scopus 로고    scopus 로고
    • Les anomalies du gène superoxyde dismutase 1 dans la sclérose latérale amyotrophique familiale: Corrélations phénotype-génotype et implications pratiques
    • (in press)
    • Jafari-Schluep HF, Khoris J, Mayeux-Portas V et al. Les anomalies du gène superoxyde dismutase 1 dans la sclérose latérale amyotrophique familiale: corrélations phénotype-génotype et implications pratiques. Rev Neurol 2003. (in press).
    • (2003) Rev. Neurol.
    • Jafari-Schluep, H.F.1    Khoris, J.2    Mayeux-Portas, V.3
  • 57
    • 0028918944 scopus 로고
    • Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
    • Pramatarova A, Figlewicz DA, Krizus 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    Figlewicz, D.A.2    Krizus, A.3
  • 58
    • 0037098621 scopus 로고    scopus 로고
    • Identification of a novel mutation in Cu/Zn SOD gene associated with familial ALS
    • Naini A, Musumeci O, Hayes L, et al. Identification of a novel mutation in Cu/Zn SOD gene associated with familial ALS. J Neurol Sci 2002; 198: 17-19.
    • (2002) J. Neurol. Sci. , vol.198 , pp. 17-19
    • Naini, A.1    Musumeci, O.2    Hayes, L.3
  • 59
    • 0029048169 scopus 로고
    • Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis
    • Sapp PC, Rosen DR, Hosler BA et al. Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. Neuromuscular Disord 1995; 5: 353-357.
    • (1995) Neuromuscular Disord. , vol.5 , pp. 353-357
    • Sapp, P.C.1    Rosen, D.R.2    Hosler, B.A.3
  • 60
    • 0037971084 scopus 로고    scopus 로고
    • Personal communication
    • DP Keckarevic. Personal communication, 2001.
    • (2001)
    • Keckarevic, D.P.1
  • 61
    • 0028956222 scopus 로고
    • A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis
    • Ikeda M, Abe K, Aoki M et al. A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 491-492.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 491-492
    • Ikeda, M.1    Abe, K.2    Aoki, M.3
  • 62
    • 0029977273 scopus 로고    scopus 로고
    • Superoxide dismutase 1: Identification of a novel mutation in a case of familial amyotrophic lateral sclerosis
    • Kostrzewa M, Damian MS, Müller U. Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis. Hum Genet 1996; 98: 48-50.
    • (1996) Hum. Genet. , vol.98 , pp. 48-50
    • Kostrzewa, M.1    Damian, M.S.2    Müller, U.3
  • 63
    • 0028987929 scopus 로고
    • Superoxide dismutase (Glu100Gly) in a family with inherited motor neuron disease: Detection of mutant superoxide dismutase activity and the presence of heterodimers
    • Calder VL, Domigan NM, George PM et al. Superoxide dismutase (Glu100Gly) in a family with inherited motor neuron disease: detection of mutant superoxide dismutase activity and the presence of heterodimers. Neurosci Lett 1995; 189: 143-146.
    • (1995) Neurosci. Lett. , vol.189 , pp. 143-146
    • Calder, V.L.1    Domigan, N.M.2    George, P.M.3
  • 64
    • 9544236295 scopus 로고    scopus 로고
    • Autosomal recessive adult-onset ALS associated with homozygosity for Asp90Ala Cu/Zn superoxide dismutase mutation. A clinical and genealogical study of 36 patients
    • Andersen PM, Forsgren L, Binzer M et al. Autosomal recessive adult-onset ALS associated with homozygosity for Asp90Ala Cu/Zn 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    Forsgren, L.2    Binzer, M.3
  • 65
    • 33746534237 scopus 로고
    • Maladies du système nerveux (moelle épinière)
    • chapter 23. Paris: Octave Doin
    • Vulpian A. Maladies du système nerveux (moelle épinière). Vol 2, chapter 23. Paris: Octave Doin, 1886: 436.
    • (1886) , vol.2 , pp. 436
    • Vulpian, A.1
  • 67
    • 0036885011 scopus 로고    scopus 로고
    • D90A-SOD1 mediated amyotrophic lateral Sclerosis: A single founder for all cases with evidence for a Cis-acting disease modifer in the recessive haplotype
    • Parton MJ, Broom W, Andersen PM et al. D90A-SOD1 mediated amyotrophic lateral Sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifer in the recessive haplotype. Human Mutation 2002; 20: 473.
    • (2002) Human Mutation , vol.20 , pp. 473
    • Parton, M.J.1    Broom, W.2    Andersen, P.M.3
  • 68
    • 0028815433 scopus 로고
    • Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons
    • Pardo CA, Xu Z, Borchelt DR et al. Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons. Proc Natl Acad Sci USA 1995; 92: 954-958.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 954-958
    • Pardo, C.A.1    Xu, Z.2    Borchelt, D.R.3
  • 69
    • 0035516124 scopus 로고    scopus 로고
    • From Charcot to Lougehrig: Deciphering selective motor neuron death in ALS
    • Cleveland DW, Rothstein JD. From Charcot to Lougehrig: deciphering selective motor neuron death in ALS. Nat Rev Neurosci 2001; 2: 806-819.
    • (2001) Nat. Rev. Neurosci. , vol.2 , pp. 806-819
    • Cleveland, D.W.1    Rothstein, J.D.2
  • 70
    • 0030900245 scopus 로고    scopus 로고
    • A familial amyotrophic lateral sclerosis-associated A4V Cu/Zn superoxide dismutase mutant has a lower Km for hydrogen peroxide. Correlation between clinical severity and the Km value
    • Yim HS, Kang JH, Chock PB et al. A familial amyotrophic lateral sclerosis-associated A4V Cu/Zn superoxide dismutase mutant has a lower Km for hydrogen peroxide. Correlation between clinical severity and the Km value. J Biol Chem 1997; 272: 8861-8863.
    • (1997) J. Biol. Chem. , vol.272 , pp. 8861-8863
    • Yim, H.S.1    Kang, J.H.2    Chock, P.B.3
  • 72
    • 0034763797 scopus 로고    scopus 로고
    • Oxidative inactivation of calcineurin by Cu/Zn superoxide dismutase G93A, a mutant typical of familial amyotrophic lateral sclerosis
    • Ferri A, Gabbianelli R, Casciati A et al. Oxidative inactivation of calcineurin by Cu/Zn superoxide dismutase G93A, a mutant typical of familial amyotrophic lateral sclerosis. J Neurochem 2001; 79: 531-538.
    • (2001) J. Neurochem. , vol.79 , pp. 531-538
    • Ferri, A.1    Gabbianelli, R.2    Casciati, A.3
  • 73
    • 0029053881 scopus 로고
    • An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria
    • Wong PC, Pardo CA, Borchelt DR et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 1995; 14: 1105-1116.
    • (1995) Neuron , vol.14 , pp. 1105-1116
    • Wong, P.C.1    Pardo, C.A.2    Borchelt, D.R.3
  • 74
    • 0031012304 scopus 로고    scopus 로고
    • Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions
    • Kunst CB, Mezey E, Brownstein MJ, Patterson D. Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions. Nat Genet 1997; 15: 91-94.
    • (1997) Nat. Genet. , vol.15 , pp. 91-94
    • Kunst, C.B.1    Mezey, E.2    Brownstein, M.J.3    Patterson, D.4
  • 76
    • 0030777650 scopus 로고    scopus 로고
    • Aggregation of mutant Cu/Zn superoxide dismutase proteins in a culture model of ALS
    • Durham HD, Roy J, Deng L, Figlewicz DA. Aggregation of mutant Cu/Zn superoxide dismutase proteins in a culture model of ALS. J Neuropathol Exp Neurol 1997; 56: 523-530.
    • (1997) J. Neuropathol. Exp. Neurol. , vol.56 , pp. 523-530
    • Durham, H.D.1    Roy, J.2    Deng, L.3    Figlewicz, D.A.4
  • 77
    • 0037168643 scopus 로고    scopus 로고
    • Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: Decreased stability of the apostate
    • Lindberg MJ, Tibell L, Oliveberg M. Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: decreased stability of the apostate. Proc Natl Acad Sci USA 2002; 99: 16607-16612.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 16607-16612
    • Lindberg, M.J.1    Tibell, L.2    Oliveberg, M.3
  • 78
    • 0037458564 scopus 로고    scopus 로고
    • Familial ALS mutants of Cu/Zn superoxide dismutase are susceptible to disulfide reduction
    • Tiwari A, Hayward LJ. Familial ALS mutants of Cu/Zn superoxide dismutase are susceptible to disulfide reduction. J Biol Chem 2003; 278: 5984-5992.
    • (2003) J. Biol. Chem. , vol.278 , pp. 5984-5992
    • Tiwari, A.1    Hayward, L.J.2
  • 79
    • 0036212119 scopus 로고    scopus 로고
    • Mutant SOD1 causes motor neuron disease independent of copper chaperone-mediated copper loading
    • Subramaniam JR, Lyons WE, Liu J et al. Mutant SOD1 causes motor neuron disease independent of copper chaperone-mediated copper loading. Nat Neurosci 2002; 5: 301-307.
    • (2002) Nat. Neurosci. , vol.5 , pp. 301-307
    • Subramaniam, J.R.1    Lyons, W.E.2    Liu, J.3
  • 80
    • 0035085455 scopus 로고    scopus 로고
    • Differential expression of 14 genes in ALS spinal cord detected using gridded cDNA arrays
    • Malaspina A, Kaushik N, Belleroche J de. Differential expression of 14 genes in ALS spinal cord detected using gridded cDNA arrays. J Neurochemistry 2001; 77: 132-145.
    • (2001) J. Neurochemistry , vol.77 , pp. 132-145
    • Malaspina, A.1    Kaushik, N.2    de Belleroche, J.3
  • 81
    • 0031577722 scopus 로고    scopus 로고
    • Stability of mutant superoxide dismutase1 associated with familial ALS determines the manner of copper release and induction of thioredoxin in erythrocytes
    • Ogawa Y, Kosaka H, Nakanishi T et al. Stability of mutant superoxide dismutase1 associated with familial ALS determines the manner of copper release and induction of thioredoxin in erythrocytes. Biochem Biophys Res Commun 1997; 241: 251-257.
    • (1997) Biochem. Biophys. Res. Commun. , vol.241 , pp. 251-257
    • Ogawa, Y.1    Kosaka, H.2    Nakanishi, T.3
  • 82
    • 0034785483 scopus 로고    scopus 로고
    • A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
    • Hadano S, Hand CK, Osuga H et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001; 29: 166-173.
    • (2001) Nat. Genet. , vol.29 , pp. 166-173
    • Hadano, S.1    Hand, C.K.2    Osuga, H.3
  • 83
    • 0034785509 scopus 로고    scopus 로고
    • The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
    • Yang Y, Hentati A, Deng HX et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001; 29: 160-165.
    • (2001) Nat. Genet. , vol.29 , pp. 160-165
    • Yang, Y.1    Hentati, A.2    Deng, H.X.3
  • 84
    • 0023836298 scopus 로고
    • Hexosaminidase A activity and amyotrophic lateral sclerosis
    • Gudesblatt M, Ludman MD, Cohen JA et al. Hexosaminidase A activity and amyotrophic lateral sclerosis. Muscle Nerve 1988; 11: 227-230.
    • (1988) Muscle Nerve , vol.11 , pp. 227-230
    • Gudesblatt, M.1    Ludman, M.D.2    Cohen, J.A.3
  • 85
    • 0033009789 scopus 로고    scopus 로고
    • Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis
    • Hayward C, Colville S, Swingler RJ, Brock DJ. Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis. Neurology 1999; 52: 1899-1901.
    • (1999) Neurology , vol.52 , pp. 1899-1901
    • Hayward, C.1    Colville, S.2    Swingler, R.J.3    Brock, D.J.4
  • 86
    • 0032779847 scopus 로고    scopus 로고
    • Manganese-containing superoxide dismutase signal sequence polymorphism associated with sporadic motor neuron disease
    • van Landeghem GF, Tabatabie P, Beckman G et al. Manganese-containing superoxide dismutase signal sequence polymorphism associated with sporadic motor neuron disease. Eur J Neurol 1999; 6: 639-644.
    • (1999) Eur. J. Neurol. , vol.6 , pp. 639-644
    • van Landeghem, G.F.1    Tabatabie, P.2    Beckman, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.