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Volumn 15, Issue 2, 2008, Pages 156-161

The tau S305S mutation causes frontotemporal dementia with parkinsonism

Author keywords

Frontotemporal dementia; FTDP 17; Progressive supranuclear palsy; Tau; Tauopathy

Indexed keywords

DNA; TAU PROTEIN;

EID: 38349113827     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2007.02017.x     Document Type: Article
Times cited : (23)

References (20)
  • 1
    • 0032543684 scopus 로고    scopus 로고
    • Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
    • Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998 393 : 702 705.
    • (1998) Nature , vol.393 , pp. 702-705
    • Hutton, M.1    Lendon, C.L.2    Rizzu, P.3
  • 2
    • 14444284106 scopus 로고    scopus 로고
    • Tau is a candidate gene for chromosome 17 frontotemporal dementia
    • Poorkaj P, Bird TD, Wijsman E, et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Annals of Neurology 1998 43 : 815 825.
    • (1998) Annals of Neurology , vol.43 , pp. 815-825
    • Poorkaj, P.1    Bird, T.D.2    Wijsman, E.3
  • 4
    • 5044235577 scopus 로고    scopus 로고
    • The role of tau (MAPT) in frontotemporal dementia and related tauopathies
    • Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Human Mutation 2004 24 : 277 295.
    • (2004) Human Mutation , vol.24 , pp. 277-295
    • Rademakers, R.1    Cruts, M.2    Van Broeckhoven, C.3
  • 5
    • 0034093228 scopus 로고    scopus 로고
    • Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: Expansion of the disease phenotype caused by tau gene mutations
    • Stanford PM, Halliday GM, Brooks WS, et al. Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. Brain 2000 123 (Pt 5 880 893.
    • (2000) Brain , vol.123 , Issue.5 , pp. 880-893
    • Stanford, P.M.1    Halliday, G.M.2    Brooks, W.S.3
  • 7
    • 38349177574 scopus 로고    scopus 로고
    • Familial frontotemporal dementia with a novel tau exon-10 splice site mutation: Nature confirms a theoretical construct
    • Dickson DW, Le TV, Nacharaju P, Yen S-H, Baker M, Hutton ML. Familial frontotemporal dementia with a novel tau exon-10 splice site mutation: nature confirms a theoretical construct. Neurobiology of Ageing 2000 21 : S65.
    • (2000) Neurobiology of Ageing , vol.21
    • Dickson, D.W.1    Le, T.V.2    Nacharaju, P.3    Yen, S.-H.4    Baker, M.5    Hutton, M.L.6
  • 8
    • 0034907406 scopus 로고    scopus 로고
    • Progressive supranuclear palsy as a disease phenotype caused by the S305S tau gene mutation
    • Wszolek ZK, Tsuboi Y, Uitti RJ, Reed L, Hutton ML, Dickson DW. Progressive supranuclear palsy as a disease phenotype caused by the S305S tau gene mutation. Brain 2001 124 : 1666 1670.
    • (2001) Brain , vol.124 , pp. 1666-1670
    • Wszolek, Z.K.1    Tsuboi, Y.2    Uitti, R.J.3    Reed, L.4    Hutton, M.L.5    Dickson, D.W.6
  • 9
    • 0026595846 scopus 로고
    • Tau proteins of Alzheimer paired helical filaments: Abnormal phosphorylation of all six brain isoforms
    • Goedert M, Spillantini MG, Cairns NJ, Crowther RA. Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all six brain isoforms. Neuron 1992 8 : 159 168.
    • (1992) Neuron , vol.8 , pp. 159-168
    • Goedert, M.1    Spillantini, M.G.2    Cairns, N.J.3    Crowther, R.A.4
  • 10
    • 0014082977 scopus 로고
    • Parkinsonism: Onset, progression and mortality
    • Hoehn MM, Yahr MD. Parkinsonism: onset, progression and mortality. Neurology 1967 17 : 427 442.
    • (1967) Neurology , vol.17 , pp. 427-442
    • Hoehn, M.M.1    Yahr, M.D.2
  • 11
    • 0033591225 scopus 로고    scopus 로고
    • 5′ splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10
    • Grover A, Houlden H, Baker M, et al. 5′ splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10. Journal of Biological Chemistry 1999 274 : 15134 15143.
    • (1999) Journal of Biological Chemistry , vol.274 , pp. 15134-15143
    • Grover, A.1    Houlden, H.2    Baker, M.3
  • 12
    • 0028175215 scopus 로고
    • Identification of a novel microtubule binding and assembly domain in the developmentally regulated inter-repeat region of tau
    • Goode BL, Feinstein SC. Identification of a novel microtubule binding and assembly domain in the developmentally regulated inter-repeat region of tau. Journal of Cell Biology 1994 124 : 769 782.
    • (1994) Journal of Cell Biology , vol.124 , pp. 769-782
    • Goode, B.L.1    Feinstein, S.C.2
  • 13
    • 0032976201 scopus 로고    scopus 로고
    • From genotype to phenotype: A clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation
    • Nasreddine ZS, Loginov M, Clark LN, et al. From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation. Annals of Neurology 1999 45 : 704 715.
    • (1999) Annals of Neurology , vol.45 , pp. 704-715
    • Nasreddine, Z.S.1    Loginov, M.2    Clark, L.N.3
  • 14
    • 0032897924 scopus 로고    scopus 로고
    • A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
    • Bird TD, Nochlin D, Poorkaj P, et al. A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L). Brain 1999 122 (Pt 4 741 756.
    • (1999) Brain , vol.122 , Issue.4 , pp. 741-756
    • Bird, T.D.1    Nochlin, D.2    Poorkaj, P.3
  • 15
    • 0036771837 scopus 로고    scopus 로고
    • An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype
    • Poorkaj P, Muma NA, Zhukareva V, et al. An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Annals of Neurology 2002 52 : 511 516.
    • (2002) Annals of Neurology , vol.52 , pp. 511-516
    • Poorkaj, P.1    Muma, N.A.2    Zhukareva, V.3
  • 16
    • 0033002879 scopus 로고    scopus 로고
    • A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy
    • Delisle MB, Murrell JR, Richardson R, et al. A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. Acta Neuropathologica (Berl) 1999 98 : 62 77.
    • (1999) Acta Neuropathologica (Berl) , vol.98 , pp. 62-77
    • Delisle, M.B.1    Murrell, J.R.2    Richardson, R.3
  • 17
    • 0035134195 scopus 로고    scopus 로고
    • Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene
    • Pastor P, Pastor E, Carnero C, et al. Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. Annals of Neurology 2001 49 : 263 267.
    • (2001) Annals of Neurology , vol.49 , pp. 263-267
    • Pastor, P.1    Pastor, E.2    Carnero, C.3
  • 18
    • 0038353463 scopus 로고    scopus 로고
    • Tau exon 10 + 16 mutation FTDP-17 presenting clinically as sporadic young onset PSP
    • Morris HR, Osaki Y, Holton J, et al. Tau exon 10 + 16 mutation FTDP-17 presenting clinically as sporadic young onset PSP. Neurology 2003 61 : 102 104.
    • (2003) Neurology , vol.61 , pp. 102-104
    • Morris, H.R.1    Osaki, Y.2    Holton, J.3
  • 19
    • 0033663879 scopus 로고    scopus 로고
    • A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies
    • Spillantini MG, Yoshida H, Rizzini C, et al. A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies. Annals of Neurology 2000 48 : 939 943.
    • (2000) Annals of Neurology , vol.48 , pp. 939-943
    • Spillantini, M.G.1    Yoshida, H.2    Rizzini, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.