메뉴 건너뛰기




Volumn 47, Issue 4 SUPPL., 1996, Pages

Molecular genetic basis of familial ALS

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

EID: 0029808008     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.47.4_suppl_2.27s     Document Type: Review
Times cited : (96)

References (66)
  • 1
    • 0020392683 scopus 로고
    • Familial motor neuron disease
    • Rowland LP, ed. New York: Raven Press
    • Emery AEH, Holloway S. Familial motor neuron disease. In: Rowland LP, ed. Human motor neuron diseases. New York: Raven Press, 1982:139-147.
    • (1982) Human Motor Neuron Diseases , pp. 139-147
    • Emery, A.E.H.1    Holloway, S.2
  • 2
    • 0024334904 scopus 로고
    • Linkage analysis in familial amyotrophic lateral sclerosis
    • Siddique T, Pericak-Vance MA, Brooks BR, et al. Linkage analysis in familial amyotrophic lateral sclerosis. Neurology 1989;39:919-925.
    • (1989) Neurology , vol.39 , pp. 919-925
    • Siddique, T.1    Pericak-Vance, M.A.2    Brooks, B.R.3
  • 3
    • 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
  • 5
    • 0026655942 scopus 로고
    • Intrafamilial heterogeneity in hereditary motor neuron disease
    • Applebaum JS, Roos RP, Salazar-Grueso EF, et al. Intrafamilial heterogeneity in hereditary motor neuron disease. Neurology 1992;42:1488-1492.
    • (1992) Neurology , vol.42 , pp. 1488-1492
    • Applebaum, J.S.1    Roos, R.P.2    Salazar-Grueso, E.F.3
  • 6
    • 12044249765 scopus 로고
    • Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity
    • Siddique T, Figlewicz DA, Pericak-Vance MA, 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    Figlewicz, D.A.2    Pericak-Vance, M.A.3
  • 7
    • 0027401203 scopus 로고
    • Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    • Published erratum appears in Nature 1993;364:362
    • 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. [Published erratum appears in Nature 1993;364:362.]
    • (1993) Nature , vol.362 , pp. 59-62
    • Rosen, D.R.1    Siddique, T.2    Patterson, D.3
  • 8
    • 0027426169 scopus 로고
    • Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase
    • Deng HX, 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
  • 9
    • 0025237394 scopus 로고
    • Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis): Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy
    • Ben Hamida M, Hentati F, Ben Hamida C. Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis): conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. Brain 1990;113:347-363.
    • (1990) Brain , vol.113 , pp. 347-363
    • Ben Hamida, M.1    Hentati, F.2    Ben Hamida, C.3
  • 11
    • 0028334717 scopus 로고
    • Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35
    • Hentati A, Bejaoui K, Pericak-Vance MA, 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    Bejaoui, K.2    Pericak-Vance, M.A.3
  • 12
    • 10244262296 scopus 로고
    • Genetic locus heterogeneity in autosomal recessive familial amyotrophic lateral sclerosis
    • Nijhawan D, Hentati A, Hentati F, et al. Genetic locus heterogeneity in autosomal recessive familial amyotrophic lateral sclerosis [abstract]. Am J Hum Genet 1995;57(suppl):A199.
    • (1995) Am J Hum Genet , vol.57 , Issue.SUPPL.
    • Nijhawan, D.1    Hentati, A.2    Hentati, F.3
  • 13
    • 0007546114 scopus 로고
    • The human Cu/Zn superoxide dismutase gene family: Architecture and expression of the chromosome 21-encoded functional gene and its processed pseudogenes
    • Rotilis G, ed. Amsterdam: Elsevier Science Publishers, Biochemical Division
    • Groner Y, Gieman-Hurwitz J, Dafri N, et al. The human Cu/Zn superoxide dismutase gene family: architecture and expression of the chromosome 21-encoded functional gene and its processed pseudogenes. In: Rotilis G, ed. Superoxide and superoxide dismutase in chemistry, biology and medicine. Amsterdam: Elsevier Science Publishers, Biochemical Division, 1986:247-255.
    • (1986) Superoxide and Superoxide Dismutase in Chemistry, Biology and Medicine , pp. 247-255
    • Groner, Y.1    Gieman-Hurwitz, J.2    Dafri, N.3
  • 15
    • 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, Price DL, Sisodia SS, Cleveland DW. 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    Price, D.L.4    Sisodia, S.S.5    Cleveland, D.W.6
  • 16
    • 0024411652 scopus 로고
    • Evolution of Cu, Zn superoxide dismutase and the Greek key 8-Barrel structural motif
    • Getzoff ED, Tainer JA, Stempien MM, Bell GI, Hallewell RA. Evolution of Cu, Zn superoxide dismutase and the Greek key 8-Barrel structural motif. Proteins 1989;5:322-336.
    • (1989) Proteins , vol.5 , pp. 322-336
    • Getzoff, E.D.1    Tainer, J.A.2    Stempien, M.M.3    Bell, G.I.4    Hallewell, R.A.5
  • 17
    • 10244271415 scopus 로고
    • Probing enzyme-substrate recognition and catalytic mechanism
    • Simic MG, Taylor KA, Ward JF, Sontag CV, eds. New York: Plenum Press
    • Tainer JA, Hallewell RA, Roberts VR, et al. Probing enzyme-substrate recognition and catalytic mechanism. In: Simic MG, Taylor KA, Ward JF, Sontag CV, eds. Oxygen radicals in biology and medicine. New York: Plenum Press, 1989.
    • (1989) Oxygen Radicals in Biology and Medicine
    • Tainer, J.A.1    Hallewell, R.A.2    Roberts, V.R.3
  • 18
    • 0015501473 scopus 로고
    • A direct demonstration of the catalytic action of superoxide dismutase through the use of pulse radiolysis
    • Klug D, Rabani J, Fridovich I. A direct demonstration of the catalytic action of superoxide dismutase through the use of pulse radiolysis. J Biol Chem 1972;247:4839.
    • (1972) J Biol Chem , vol.247 , pp. 4839
    • Klug, D.1    Rabani, J.2    Fridovich, I.3
  • 19
    • 0016816804 scopus 로고
    • The interaction of bovine erythrocyte superoxide dismutase with hydrogen peroxide: Inactivation of the enzyme
    • Hodgson EK, Fridovich I. The interaction of bovine erythrocyte superoxide dismutase with hydrogen peroxide: inactivation of the enzyme. Biochemistry 1975;14:5299-5303.
    • (1975) Biochemistry , vol.14 , pp. 5299-5303
    • Hodgson, E.K.1    Fridovich, I.2
  • 20
    • 0015511160 scopus 로고
    • Interaction of hydrogen peroxide with superoxide dismutase from erythrocytes
    • Symonyan MA, Nalbandyan RM. Interaction of hydrogen peroxide with superoxide dismutase from erythrocytes. FEBS Lett 1972;28:22-24.
    • (1972) FEBS Lett , vol.28 , pp. 22-24
    • Symonyan, M.A.1    Nalbandyan, R.M.2
  • 21
    • 0027456505 scopus 로고
    • Enzyme function of copper, zinc superoxide dismutase as a free radical generator
    • Yim MB, Chock PB, Stadtman ER. Enzyme function of copper, zinc superoxide dismutase as a free radical generator. J Biol Chem 1993;286:4099-4105.
    • (1993) J Biol Chem , vol.286 , pp. 4099-4105
    • Yim, M.B.1    Chock, P.B.2    Stadtman, E.R.3
  • 22
    • 0028813380 scopus 로고
    • Superoxide dismutase 1 subunits with mutations linked to familial amyotrophic lateral sclerosis do not affect wild type subunit function
    • Borchelt DR, Guarnieri M, Wong PC, et al. Superoxide dismutase 1 subunits with mutations linked to familial amyotrophic lateral sclerosis do not affect wild type subunit function. J Biol Chem 1995;270:3234-3238.
    • (1995) J Biol Chem , vol.270 , pp. 3234-3238
    • Borchelt, D.R.1    Guarnieri, M.2    Wong, P.C.3
  • 23
    • 0029050058 scopus 로고
    • Subunit-destabilizing mutations in Drosophila copper/zinc superoxide dismutase: Neuropathology and a model of dimer dysequilibrium
    • Phillips JP, Tainer JA, Getzoff ED, Boulianne G, Kirby K, Hilliker AJ. Subunit-destabilizing mutations in Drosophila copper/zinc superoxide dismutase: neuropathology and a model of dimer dysequilibrium. Proc Natl Acad Sci USA 1995; 92:8533-8534.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 8533-8534
    • Phillips, J.P.1    Tainer, J.A.2    Getzoff, E.D.3    Boulianne, G.4    Kirby, K.5    Hilliker, A.J.6
  • 24
    • 0027965073 scopus 로고
    • Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity
    • Borchelt DR, Lee MK, Slunt HS, et al. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. Proc Natl Acad Sci USA 1994;91:8292-8296.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 8292-8296
    • Borchelt, D.R.1    Lee, M.K.2    Slunt, H.S.3
  • 25
    • 0029671220 scopus 로고    scopus 로고
    • Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis
    • Wiedau-Pazos M, Goto JJ, Rabizadeh S, et al. Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis. Science 1996;271:515-518.
    • (1996) Science , vol.271 , pp. 515-518
    • Wiedau-Pazos, M.1    Goto, J.J.2    Rabizadeh, S.3
  • 28
    • 0029020394 scopus 로고
    • Abnormality of Cu/Zn superoxide dismutase (SOD1) activity in Japanese familial amyotrophic lateral sclerosis with two base pair deletion in the SOD1 gene
    • Nakashima K, Watanabe Y, Kuno N, Nanba E, Takahashi K. Abnormality of Cu/Zn superoxide dismutase (SOD1) activity in Japanese familial amyotrophic lateral sclerosis with two base pair deletion in the SOD1 gene [letter]. Neurology 1995; 45:1019-1020.
    • (1995) Neurology , vol.45 , pp. 1019-1020
    • Nakashima, K.1    Watanabe, Y.2    Kuno, N.3    Nanba, E.4    Takahashi, K.5
  • 29
    • 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. Neuromuscul Disord 1994;5:353-357.
    • (1994) Neuromuscul Disord , vol.5 , pp. 353-357
    • Sapp, P.C.1    Rosen, D.R.2    Hosler, B.A.3
  • 30
    • 0029003428 scopus 로고
    • Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis
    • Deng HX, 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
  • 31
    • 0029066863 scopus 로고
    • The D90A mutation results in a polymorphism of Cu, Zn superoxide dismutase that is prevalent in northern Sweden and Finland
    • Själander A, Beckman G, Deng HX, Iqbal Z, Tainer JA, Siddique T. The D90A mutation results in a polymorphism of Cu, Zn superoxide dismutase that is prevalent in northern Sweden and Finland. Hum Mol Genet 1995;4:1105-1108.
    • (1995) Hum Mol Genet , vol.4 , pp. 1105-1108
    • Själander, A.1    Beckman, G.2    Deng, H.X.3    Iqbal, Z.4    Tainer, J.A.5    Siddique, T.6
  • 32
    • 0028172052 scopus 로고
    • Impaired copper binding by the H46R mutant of human Cu, Zn superoxide dismutase, involved in amyotrophic lateral sclerosis
    • Carri MT, Battistoni A, Polizio F, Desideri A, Rotilio G. Impaired copper binding by the H46R mutant of human Cu, Zn superoxide dismutase, involved in amyotrophic lateral sclerosis. FEBS Lett 1994;356:314-316.
    • (1994) FEBS Lett , vol.356 , pp. 314-316
    • Carri, M.T.1    Battistoni, A.2    Polizio, F.3    Desideri, A.4    Rotilio, G.5
  • 33
    • 0027997236 scopus 로고
    • Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis
    • Tsuda T, Munthasser S, Fraser PE, et al. Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis. Neuron 1994;13:727-736.
    • (1994) Neuron , vol.13 , pp. 727-736
    • Tsuda, T.1    Munthasser, S.2    Fraser, P.E.3
  • 34
    • 0028940996 scopus 로고
    • Superoxide dismutase concentration and activity in familial amyotrophic lateral sclerosis
    • Bowling AC, Barkowski EE, McKenna-Yasek D, et al. Superoxide dismutase concentration and activity in familial amyotrophic lateral sclerosis. J Neurochem 1995;64:2366-2369.
    • (1995) J Neurochem , vol.64 , pp. 2366-2369
    • Bowling, A.C.1    Barkowski, E.E.2    McKenna-Yasek, D.3
  • 35
    • 0027359334 scopus 로고
    • Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis
    • Bowling AC, Schulz JB, Brown RH Jr, Beal MF. Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis. J Neurochem 1993;61:2322-2325.
    • (1993) J Neurochem , vol.61 , pp. 2322-2325
    • Bowling, A.C.1    Schulz, J.B.2    Brown Jr., R.H.3    Beal, M.F.4
  • 36
    • 0028915976 scopus 로고
    • Mutations associated with amyotrophic lateral sclerosis convert superoxide dismutase from an antiapoptotic gene to a proapoptotic gene: Studies in yeast and neural cells
    • Rabizadeh S, Gralla EB, Borchelt DR, et al. Mutations associated with amyotrophic lateral sclerosis convert superoxide dismutase from an antiapoptotic gene to a proapoptotic gene: studies in yeast and neural cells. Proc Natl Acad Sci USA 1995;92:3024-3028.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 3024-3028
    • Rabizadeh, S.1    Gralla, E.B.2    Borchelt, D.R.3
  • 38
    • 10244248468 scopus 로고    scopus 로고
    • Familial motor neuron disease
    • Appel SH, ed. Chicago: Mosby-Year Book, Inc., in press
    • Siddique T, Hentati A. Familial motor neuron disease. In: Appel SH, ed. Current neurology. Chicago: Mosby-Year Book, Inc., 1996 (in press).
    • (1996) Current Neurology
    • Siddique, T.1    Hentati, A.2
  • 39
    • 0029010496 scopus 로고
    • Amyotrophic lateral sclerosis associated with homozygosity for an Asp90 Ala mutation in Cu, Zn-superoxide dismutase
    • Andersen PM, Nilsson P, Ala-Hurula V, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90 Ala 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
  • 40
    • 0028846906 scopus 로고
    • Summary of 'superoxide dismutase (SOD) and free radicals in amyotrophic lateral sclerosis and neurodegeneration' conference
    • Roos RR, Siddique T, Tainer JA. Summary of 'superoxide dismutase (SOD) and free radicals in amyotrophic lateral sclerosis and neurodegeneration' conference. Neurology 1995;45: 1779-1780.
    • (1995) Neurology , vol.45 , pp. 1779-1780
    • Roos, R.R.1    Siddique, T.2    Tainer, J.A.3
  • 41
    • 0028284779 scopus 로고
    • Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation
    • Gurney ME, Pu H, Chiu AY, 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    Pu, H.2    Chiu, A.Y.3
  • 42
    • 9544235102 scopus 로고    scopus 로고
    • Prognosis in familial ALS: Progression and survival in patients with E100G and A4V mutations in Cu, Zn superoxide dismutase
    • in press
    • Juneja T, Pericak-Vance M, Laing NG, Dave S, Siddique T. Prognosis in familial ALS: progression and survival in patients with E100G and A4V mutations in Cu, Zn superoxide dismutase. Neurology 1996 (in press).
    • (1996) Neurology
    • Juneja, T.1    Pericak-Vance, M.2    Laing, N.G.3    Dave, S.4    Siddique, T.5
  • 43
    • 0028168971 scopus 로고
    • Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: A possible new subtype of familial ALS
    • Aoki M, Ogasawara M, Matsubara Y, et al. Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS. J Neurol Sci 1994;126:77-83.
    • (1994) J Neurol Sci , vol.126 , pp. 77-83
    • Aoki, M.1    Ogasawara, M.2    Matsubara, Y.3
  • 44
    • 0027952571 scopus 로고
    • Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis
    • Robbertecht W, Sapp P, Viaene MK, et al. Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis. J Neurochem 1994;62:384-387.
    • (1994) J Neurochem , vol.62 , pp. 384-387
    • Robbertecht, W.1    Sapp, P.2    Viaene, M.K.3
  • 45
    • 0028131699 scopus 로고
    • Red blood cell Cu/Zn superoxide dismutase activity in sporadic amyotrophic lateral sclerosis
    • Puymirat J, Cossette L, Gosselin F, Bouchard JP. Red blood cell Cu/Zn superoxide dismutase activity in sporadic amyotrophic lateral sclerosis. J Neurol Sci 1994;127:121-123.
    • (1994) J Neurol Sci , vol.127 , pp. 121-123
    • Puymirat, J.1    Cossette, L.2    Gosselin, F.3    Bouchard, J.P.4
  • 46
    • 0028915631 scopus 로고
    • Motor neuron-astrocyte interactions and levels of Cu, Zn superoxide dismutase in sporadic amyotrophic lateral sclerosis
    • O'Reilly SA, Roedica J, Nagy D, et al. Motor neuron-astrocyte interactions and levels of Cu, Zn superoxide dismutase in sporadic amyotrophic lateral sclerosis. Exp Neurol 1995;131: 203-210.
    • (1995) Exp Neurol , vol.131 , pp. 203-210
    • O'Reilly, S.A.1    Roedica, J.2    Nagy, D.3
  • 47
    • 0028022870 scopus 로고
    • Copper/zinc superoxide dismutase mRNA levels are increased in sporadic amyotrophic lateral sclerosis motor neurons
    • Bergeron C, Muntasser S, Somerville MJ, Weyer L, Percy ME. Copper/zinc superoxide dismutase mRNA levels are increased in sporadic amyotrophic lateral sclerosis motor neurons. Brain Res 1994;659:272-276.
    • (1994) Brain Res , vol.659 , pp. 272-276
    • Bergeron, C.1    Muntasser, S.2    Somerville, M.J.3    Weyer, L.4    Percy, M.E.5
  • 48
    • 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
  • 49
    • 0028888945 scopus 로고
    • Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis
    • Ripps ME, Huntley GW, Hof PR, Morrison JH, Gordon JW. Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 1995;92:689-693.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 689-693
    • Ripps, M.E.1    Huntley, G.W.2    Hof, P.R.3    Morrison, J.H.4    Gordon, J.W.5
  • 50
    • 0028933344 scopus 로고
    • Neuropathological changes in two lines of mice carrying a transgene for mutant human Cu, Zn SOD, and in mice overexpressing wild type human SOD: A model of familial amyotrophic lateral sclerosis (FALS)
    • Dal Canto MC, Gurney ME. Neuropathological changes in two lines of mice carrying a transgene for mutant human Cu, Zn SOD, and in mice overexpressing wild type human SOD: a model of familial amyotrophic lateral sclerosis (FALS). Brain Res 1995;676:25-40.
    • (1995) Brain Res , vol.676 , pp. 25-40
    • Dal Canto, M.C.1    Gurney, M.E.2
  • 51
    • 0027946294 scopus 로고
    • Development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis
    • Dal Canto MC, Gurney ME. Development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis. Am J Pathol 1994;145:1271-1279.
    • (1994) Am J Pathol , vol.145 , pp. 1271-1279
    • Dal Canto, M.C.1    Gurney, M.E.2
  • 53
    • 0346693234 scopus 로고
    • Functional and structural correlates of 12 superoxide dismutase-1 mutations in UK families with amyotrophic lateral sclerosis
    • Dublin, Ireland
    • De Belleroche J, Orrell R, Marklund S, et al. Functional and structural correlates of 12 superoxide dismutase-1 mutations in UK families with amyotrophic lateral sclerosis [abstract]. Sixth International Symposium on ALS/MND; 1995; Dublin, Ireland.
    • (1995) Sixth International Symposium on ALS/MND
    • De Belleroche, J.1    Orrell, R.2    Marklund, S.3
  • 54
    • 0028123297 scopus 로고
    • Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis
    • Elshafey A, Lanyon WG, Connor JM. Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis. Hum Mol Genet 1994;3:363-364.
    • (1994) Hum Mol Genet , vol.3 , pp. 363-364
    • Elshafey, A.1    Lanyon, W.G.2    Connor, J.M.3
  • 55
    • 0028244477 scopus 로고
    • Identification of two novel 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 novel 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
  • 56
    • 0028132231 scopus 로고
    • A new variant Cu/Zn superoxide dismutase (Va17Glu) 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 (Va17Glu) 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
  • 57
    • 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
  • 58
    • 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, Swinger 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    Swinger, R.J.2    Brock, D.J.H.3
  • 59
    • 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 DJ. Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. Mol Cell Probes 1994;8:329-330.
    • (1994) Mol Cell Probes , vol.8 , pp. 329-330
    • Jones, C.T.1    Shaw, P.J.2    Chari, G.3    Brock, D.J.4
  • 60
    • 0028771134 scopus 로고
    • Leu106→Val (CTC→GTC) mutation of superoxide dismutase-1 gene in patient with familial amyotrophic lateral sclerosis in Japan
    • Kawamata J, Hasegawa H, Shimohama S, Kimura J, Tanaka S, Ueda K. Leu106→Val (CTC→GTC) mutation of superoxide dismutase-1 gene in patient with familial amyotrophic lateral sclerosis in Japan [letter]. Lancet 1994;343:1501.
    • (1994) Lancet , vol.343 , pp. 1501
    • Kawamata, J.1    Hasegawa, H.2    Shimohama, S.3    Kimura, J.4    Tanaka, S.5    Ueda, K.6
  • 62
    • 0028601342 scopus 로고
    • Autosomal dominant amyotrophic lateral sclerosis: A novel mutation in the Cu/Zn superoxide dismutase-1 gene
    • Kostrzewa M, Burch-Lehmann U, Muller 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    Burch-Lehmann, U.2    Muller, U.3
  • 63
    • 0347664546 scopus 로고
    • A previously undescribed mutation in the SOD1 gene in a French family with atypical ALS
    • Dublin, Ireland
    • Moulard B, Camu W, Brice A, et al. A previously undescribed mutation in the SOD1 gene in a French family with atypical ALS [abstract]. Sixth International Symposium on ALS/MND; 1995; Dublin, Ireland.
    • (1995) Sixth International Symposium on ALS/MND
    • Moulard, B.1    Camu, W.2    Brice, A.3
  • 64
    • 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. Biochem Biophys Res Commun 1994; 200:695-703.
    • (1994) Biochem Biophys Res Commun , vol.200 , pp. 695-703
    • Nakano, R.1    Sato, S.2    Inuzuka, T.3
  • 65
    • 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
  • 66
    • 0347853405 scopus 로고
    • A novel missense mutation (S134N) of the SOD1 gene in a patient with familial motor neuron disease
    • Tokyo, Japan
    • Watanabe M, Aoki M, Abe K, et al. A novel missense mutation (S134N) of the SOD1 gene in a patient with familial motor neuron disease [abstract]. XIth TMIN International Symposium; 1995; Tokyo, Japan.
    • (1995) XIth TMIN International Symposium
    • Watanabe, M.1    Aoki, M.2    Abe, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.