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Volumn 3, Issue 6, 2008, Pages

TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; TAR DNA BINDING PROTEIN 43; PROTEIN TDP 43; PROTEIN TDP-43;

EID: 48749087900     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0002450     Document Type: Article
Times cited : (59)

References (30)
  • 1
    • 23144445291 scopus 로고    scopus 로고
    • Incidence of amyotrophic lateral sclerosis in southern Italy: A population based study
    • Logroscino G, et al. (2005) Incidence of amyotrophic lateral sclerosis in southern Italy: a population based study. Journal of neurology, neurosurgery, and pychiatry 76: 1094-8.
    • (2005) Journal of neurology, neurosurgery, and pychiatry , vol.76 , pp. 1094-1098
    • Logroscino, G.1
  • 2
    • 40349102131 scopus 로고    scopus 로고
    • Prevalence of SOD1 mutations in the Italian ALS population
    • February 12
    • Chiò A, Traynor BJ, Lombardo F, Fimognari M, Calvo A, et al. (February 12, 2008) Prevalence of SOD1 mutations in the Italian ALS population. Neurology 70: 533-7.
    • (2008) Neurology , vol.70 , pp. 533-537
    • Chiò, A.1    Traynor, B.J.2    Lombardo, F.3    Fimognari, M.4    Calvo, A.5
  • 3
    • 0027401203 scopus 로고    scopus 로고
    • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, et al. (March 4, 1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59-6210.1038/ 362059a0.
    • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, et al. (March 4, 1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59-6210.1038/ 362059a0.
  • 5
    • 4143084861 scopus 로고    scopus 로고
    • Point mutations of the p150 subunit or dynactin (DCTN1) gene ALS
    • Münch C, Sedlmeier R, Meyer T, Homberg V, Sperfeld A, et al. (2004) Point mutations of the p150 subunit or dynactin (DCTN1) gene ALS. Neurology 63: 724-726.
    • (2004) Neurology , vol.63 , pp. 724-726
    • Münch, C.1    Sedlmeier, R.2    Meyer, T.3    Homberg, V.4    Sperfeld, A.5
  • 6
    • 0034785483 scopus 로고    scopus 로고
    • A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
    • October, 10.1038/ng1001-166
    • Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, et. al. (October 2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 29: 166-17310.1038/ng1001-166.
    • (2001) Nat Genet , vol.29 , pp. 166-173
    • Hadano, S.1    Hand, C.K.2    Osuga, H.3    Yanagisawa, Y.4    Otomo, A.5    et., al.6
  • 7
    • 2442658908 scopus 로고    scopus 로고
    • Chen Y, Bennett CL, Huytth HM, Blair rP, Puls I, et al. (June 2004) DNA/ RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4). The American Journal of Human Genetics 74: 1128-113510.1086/421054.
    • Chen Y, Bennett CL, Huytth HM, Blair rP, Puls I, et al. (June 2004) DNA/ RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4). The American Journal of Human Genetics 74: 1128-113510.1086/421054.
  • 8
    • 6344257200 scopus 로고    scopus 로고
    • Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, et al. (November 2004) A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis. The American Journal of Human Genetics 75: 822-83110.1086/ 425287.
    • Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, et al. (November 2004) A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis. The American Journal of Human Genetics 75: 822-83110.1086/ 425287.
  • 9
    • 33847622526 scopus 로고    scopus 로고
    • Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: First stage analysis and public release of data
    • April
    • Schymick JC, Scholz SW, Fung H, Britton A, Arepalli S, et al. (April 2007) Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 322-8.
    • (2007) Lancet Neurol , pp. 322-328
    • Schymick, J.C.1    Scholz, S.W.2    Fung, H.3    Britton, A.4    Arepalli, S.5
  • 10
    • 0025729489 scopus 로고
    • Ubiquitin-immunoreactive intrancuronal inclusions in amyotrophic lateral sclerosis
    • April, Brain
    • Leigh PN, Whitwell H, Garofalo O, Buller J, Swash M, et al. (April 1991) Ubiquitin-immunoreactive intrancuronal inclusions in amyotrophic lateral sclerosis. Morphology, distribution, and specificity. Brain 114 (Pt 2): 775-88.
    • (1991) Morphology, distribution, and specificity , vol.114 , Issue.PART 2 , pp. 775-788
    • Leigh, P.N.1    Whitwell, H.2    Garofalo, O.3    Buller, J.4    Swash, M.5
  • 11
    • 33749632259 scopus 로고    scopus 로고
    • Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • October
    • Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, et al. (October 2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 6 314: 130-3.
    • (2006) Science , vol.6 , Issue.314 , pp. 130-133
    • Neumann, M.1    Sampathu, D.M.2    Kwong, L.K.3    Truax, A.C.4    Micsenyi, M.C.5
  • 12
    • 34249946466 scopus 로고    scopus 로고
    • Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
    • May
    • Mackenzie IRA, Bigio EH, Ince PG, Geser F, Neumann M, et al. (May 2007) Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 61: 427-34.
    • (2007) Ann Neurol , vol.61 , pp. 427-434
    • Mackenzie, I.R.A.1    Bigio, E.H.2    Ince, P.G.3    Geser, F.4    Neumann, M.5
  • 13
    • 34249313704 scopus 로고    scopus 로고
    • Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALS
    • June 13
    • Robertson J, Sanelli T, Xiao S, Yang W, Horne P, et al. (June 13, 2007) Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALS. Neurosci Lett 420: 128-32.
    • (2007) Neurosci Lett , vol.420 , pp. 128-132
    • Robertson, J.1    Sanelli, T.2    Xiao, S.3    Yang, W.4    Horne, P.5
  • 14
    • 0344256486 scopus 로고    scopus 로고
    • Structural diversity and functional implications of the eukaryotic TDP gene family
    • January
    • Wang H, Wang I, Bose J, Shen CJ (January 2004) Structural diversity and functional implications of the eukaryotic TDP gene family. Genomics 83: 130-9.
    • (2004) Genomics , vol.83 , pp. 130-139
    • Wang, H.1    Wang, I.2    Bose, J.3    Shen, C.J.4
  • 15
    • 0029066110 scopus 로고
    • Cloning and characterization of a novel cellular protein, TDPA 3, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs
    • June
    • Ou SH, Wu F, Harrich D, García-Martínez LF, Gaynor RB (June 1995) Cloning and characterization of a novel cellular protein, TDPA 3, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. J Virol 69: 3584-96.
    • (1995) J Virol , vol.69 , pp. 3584-3596
    • Ou, S.H.1    Wu, F.2    Harrich, D.3    García-Martínez, L.F.4    Gaynor, R.B.5
  • 16
    • 27844514227 scopus 로고    scopus 로고
    • TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: An important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing
    • November 11
    • Buratti E, Brindisi A, Giombi M, Tisminetzky S, Ayala YM, et al. (November 11, 2005) TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J Biol Chem 280: 37572-84.
    • (2005) J Biol Chem , vol.280 , pp. 37572-37584
    • Buratti, E.1    Brindisi, A.2    Giombi, M.3    Tisminetzky, S.4    Ayala, Y.M.5
  • 17
    • 41149180753 scopus 로고    scopus 로고
    • TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
    • March 21
    • Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, et al. (March 21, 2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319: 1668-72.
    • (2008) Science , vol.319 , pp. 1668-1672
    • Sreedharan, J.1    Blair, I.P.2    Tripathi, V.B.3    Hu, X.4    Vance, C.5
  • 18
    • 41949119043 scopus 로고    scopus 로고
    • Gitcho MA, Baloh R.H, Chakraverty S, Mayo K, NortonjB, et al. (February 20, 2008) TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol.
    • Gitcho MA, Baloh R.H, Chakraverty S, Mayo K, NortonjB, et al. (February 20, 2008) TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol.
  • 22
    • 0037066430 scopus 로고    scopus 로고
    • A human genome diversity cell fine panel
    • April 12
    • Cann HM, de Toma C, Cazes L, Legrand M, Morel V, et al. (April 12, 2002) A human genome diversity cell fine panel. Science 296: 261-2.
    • (2002) Science , vol.296 , pp. 261-262
    • Cann, H.M.1    de Toma, C.2    Cazes, L.3    Legrand, M.4    Morel, V.5
  • 23
    • 33749667345 scopus 로고    scopus 로고
    • Genome-wide genotyping in Parkinson's disease and neurologically normal controls: First stage analysis and public release of data
    • November
    • Fung H, Scholz S, Matarin M, Simón-Sánchez J, Hernandez D, et al. (November 2006) Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurcil 5: 911-6.
    • (2006) Lancet Neurcil , vol.5 , pp. 911-916
    • Fung, H.1    Scholz, S.2    Matarin, M.3    Simón-Sánchez, J.4    Hernandez, D.5
  • 24
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • September
    • Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, et al. (September 2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-75.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3    Thomas, L.4    Ferreira, M.A.R.5
  • 25
    • 34247606414 scopus 로고    scopus 로고
    • TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation
    • May
    • Tan C, Eguchi H, Tagawa A, Onodera O, Iwasaki T, et al. (May 2007) TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation. Acta Neuropathol 113: 535-42.
    • (2007) Acta Neuropathol , vol.113 , pp. 535-542
    • Tan, C.1    Eguchi, H.2    Tagawa, A.3    Onodera, O.4    Iwasaki, T.5
  • 27
    • 33750716074 scopus 로고    scopus 로고
    • TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • February 22
    • Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, et al. (February 22, 2008) TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 351: 602-11.
    • (2008) Biochem Biophys Res Commun , vol.351 , pp. 602-611
    • Arai, T.1    Hasegawa, M.2    Akiyama, H.3    Ikeda, K.4    Nonaka, T.5
  • 30
    • 0038148221 scopus 로고    scopus 로고
    • Genetic variation among world populations: Inferences from 100 Alu insertion polymorphisms
    • July
    • Watkins WS, Rogers AR, Ostler CT, Wooding S, Barrishad MJ, et al. (July 2003) Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms. Genome Res 13: 1607-18.
    • (2003) Genome Res , vol.13 , pp. 1607-1618
    • Watkins, W.S.1    Rogers, A.R.2    Ostler, C.T.3    Wooding, S.4    Barrishad, M.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.