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Volumn 36, Issue 1, 2007, Pages 111-114

Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS

Author keywords

Amyotrophic lateral sclerosis; Mutation; Phenotype; Prognosis; SOD1

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; DISEASE ACTIVITY; DISEASE COURSE; FAMILIAL DISEASE; FAMILY HISTORY; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; PRIORITY JOURNAL; SOD1 GENE;

EID: 34347354304     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20756     Document Type: Article
Times cited : (5)

References (15)
  • 1
    • 0242643434 scopus 로고    scopus 로고
    • Relevance of oxidative injury in the pathogenesis of motor neuron diseases
    • Agar J, Durham H. Relevance of oxidative injury in the pathogenesis of motor neuron diseases. Amyotroph Lateral Scler Other Motor Neuron Disord 2003;4:232-242.
    • (2003) Amyotroph Lateral Scler Other Motor Neuron Disord , vol.4 , pp. 232-242
    • Agar, J.1    Durham, H.2
  • 2
    • 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, Ogasawara M, Matsubara Y, Kobayashi T, 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    Ogasawara, M.4    Matsubara, Y.5    Kobayashi, T.6
  • 3
    • 0032424925 scopus 로고    scopus 로고
    • Molecular analysis of the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS) in Japan
    • Aoki M, Abe K, Itoyama Y. Molecular analysis of the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS) in Japan. Cell Mol Neurobiol 1998;18:639-647.
    • (1998) Cell Mol Neurobiol , vol.18 , pp. 639-647
    • Aoki, M.1    Abe, K.2    Itoyama, Y.3
  • 5
    • 3943102116 scopus 로고    scopus 로고
    • Unraveling the mechanisms involved in motor neuron degeneration in ALS
    • Bruijn LI, Miller TM, Cleveland DW. Unraveling the mechanisms involved in motor neuron degeneration in ALS. Annu Rev Neurosci 2004;27:723-749.
    • (2004) Annu Rev Neurosci , vol.27 , pp. 723-749
    • Bruijn, L.I.1    Miller, T.M.2    Cleveland, D.W.3
  • 6
    • 0031960868 scopus 로고    scopus 로고
    • Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis
    • Hayward C, Brock DJ, Minns RA, Swingler RJ. Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis. J Med Genet 1998;35:174.
    • (1998) J Med Genet , vol.35 , pp. 174
    • Hayward, C.1    Brock, D.J.2    Minns, R.A.3    Swingler, R.J.4
  • 7
    • 0036062628 scopus 로고    scopus 로고
    • Temporal patterns of cytokine and apoptosis-related gene expression in spinal cords of the G93A-SOD1 mouse model of amyotrophic lateral sclerosis
    • Hensley K, Floyd RA, Gordon B, Mou S, Pye QN, Stewart C, et al. Temporal patterns of cytokine and apoptosis-related gene expression in spinal cords of the G93A-SOD1 mouse model of amyotrophic lateral sclerosis. J Neurochem 2002;82:365-374.
    • (2002) J Neurochem , vol.82 , pp. 365-374
    • Hensley, K.1    Floyd, R.A.2    Gordon, B.3    Mou, S.4    Pye, Q.N.5    Stewart, C.6
  • 8
    • 0031015422 scopus 로고    scopus 로고
    • Prognosis in familial amyotrophic lateral sclerosis: Progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase
    • Juneja T, Pericak-Vance MA, Laing NG, Dave S, Siddique T. Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase. Neurology 1997;48:55-57.
    • (1997) Neurology , vol.48 , pp. 55-57
    • Juneja, T.1    Pericak-Vance, M.A.2    Laing, N.G.3    Dave, S.4    Siddique, T.5
  • 9
    • 0036234975 scopus 로고    scopus 로고
    • Disease progression in amyotrophic lateral sclerosis: Predictors of survival
    • Magnus T, Beck M, Giess R, Puls I, Naumann M, Toyka KV. Disease progression in amyotrophic lateral sclerosis: predictors of survival. Muscle Nerve 2002;25:709-714.
    • (2002) Muscle Nerve , vol.25 , pp. 709-714
    • Magnus, T.1    Beck, M.2    Giess, R.3    Puls, I.4    Naumann, M.5    Toyka, K.V.6
  • 10
    • 12144286381 scopus 로고    scopus 로고
    • NEDL1, a novel ubiqutin-protein isopeptide ligase for dishevelled-1, targets mutant superoxide dismutase-1
    • Miyazaki K, Fujita T, Ozaki T, Kato C, Kurose Y, Sakamoto M, et al. NEDL1, a novel ubiqutin-protein isopeptide ligase for dishevelled-1, targets mutant superoxide dismutase-1. J Biol Chem 2004;279:11327-11335.
    • (2004) J Biol Chem , vol.279 , pp. 11327-11335
    • Miyazaki, K.1    Fujita, T.2    Ozaki, T.3    Kato, C.4    Kurose, Y.5    Sakamoto, M.6
  • 11
    • 0242577280 scopus 로고    scopus 로고
    • Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with an H43R mutation in Cu/Zn superoxide dismutase
    • Mochizuki Y, Mizutani T, Nakano R, Fukushima T, Honma T, Nemoto N, et al. Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with an H43R mutation in Cu/Zn superoxide dismutase. Rinsho Shinkeigaku 2003;43:491-495.
    • (2003) Rinsho Shinkeigaku , vol.43 , pp. 491-495
    • Mochizuki, Y.1    Mizutani, T.2    Nakano, R.3    Fukushima, T.4    Honma, T.5    Nemoto, N.6
  • 12
    • 23144448320 scopus 로고    scopus 로고
    • Molecular and cellular pathways of neurodegeneration in motor neuron disease
    • Shaw PJ. Molecular and cellular pathways of neurodegeneration in motor neuron disease. J Neurol Neurosurg Psychiatry 2005;76:1046-1057.
    • (2005) J Neurol Neurosurg Psychiatry , vol.76 , pp. 1046-1057
    • Shaw, P.J.1
  • 13
    • 1642528556 scopus 로고    scopus 로고
    • Disruption of the structure of the Golgi apparatus and function of the secretory pathway by mutants G93A and G85R of Cu,Zn superoxide dismutase (SOD1) of familial amyotrophic lateral sclerosis
    • Stieber A, Gonatas JO, Moore JS, Bantly A, Yim HS, Yim MB, et al. Disruption of the structure of the Golgi apparatus and function of the secretory pathway by mutants G93A and G85R of Cu,Zn superoxide dismutase (SOD1) of familial amyotrophic lateral sclerosis. J Neurol Sci 2004;219:45-53.
    • (2004) J Neurol Sci , vol.219 , pp. 45-53
    • Stieber, A.1    Gonatas, J.O.2    Moore, J.S.3    Bantly, A.4    Yim, H.S.5    Yim, M.B.6
  • 14
    • 0037388067 scopus 로고    scopus 로고
    • Misfolded CuZnSOD and amyotrophic lateral sclerosis
    • Valentine JS, Hart PJ. Misfolded CuZnSOD and amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 2003;100:3617-3622.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 3617-3622
    • Valentine, J.S.1    Hart, P.J.2
  • 15
    • 22244479388 scopus 로고    scopus 로고
    • Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis
    • Valentine JS, Doucette PA, Potter SZ. Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis. Annu Rev Biochem 2005;74:563-593.
    • (2005) Annu Rev Biochem , vol.74 , pp. 563-593
    • Valentine, J.S.1    Doucette, P.A.2    Potter, S.Z.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.