메뉴 건너뛰기




Volumn 109, Issue 6, 2009, Pages 1596-1609

TorsinA and dystonia: From nuclear envelope to synapse

Author keywords

AAA+ chaperone; Dopaminergic pathway; Dystonia; DYT1; TorsinA

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CARRIER PROTEIN; PROTEIN TORSINA; UNCLASSIFIED DRUG;

EID: 65949083775     PISSN: 00223042     EISSN: 14714159     Source Type: Journal    
DOI: 10.1111/j.1471-4159.2009.06095.x     Document Type: Review
Times cited : (49)

References (117)
  • 1
    • 0035341592 scopus 로고    scopus 로고
    • The dynein heavy chain: Structure, mechanics and evolution
    • DOI 10.1016/S0962-8924(01)01970-5, PII S0962892401019705
    • Asai D. J. Koonce M. P. (2001) The dynein heavy chain: structure, mechanics and evolution. Trends Cell Biol. 11, 196 202. (Pubitemid 32367876)
    • (2001) Trends in Cell Biology , vol.11 , Issue.5 , pp. 196-202
    • Asai, D.J.1    Koonce, M.P.2
  • 4
    • 0032754787 scopus 로고    scopus 로고
    • Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain
    • DOI 10.1002/1531-8249(199911)46:5<761::AID-ANA12>3.0.CO;2-Z
    • Augood S. J., Martin D. M., Ozelius L. J., Breakefield X. O., Penney Jr J. B. Standaert D. G. (1999) Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain. Ann. Neurol. 46, 761 769. (Pubitemid 29518138)
    • (1999) Annals of Neurology , vol.46 , Issue.5 , pp. 761-769
    • Augood, S.J.1    Martin, D.M.2    Ozelius, L.J.3    Breakefield, X.O.4    Penney Jr., J.B.5    Standaert, D.G.6
  • 9
    • 0033571036 scopus 로고    scopus 로고
    • Mutations in ooc-5 and ooc-3 disrupt oocyte formation and the reestablishment of asymmetric PAR protein localization in two-cell Caenorhabditis elegans embryos
    • Basham S. E. Rose L. S. (1999) Mutations in ooc-5 and ooc-3 disrupt oocyte formation and the reestablishment of asymmetric PAR protein localization in two-cell Caenorhabditis elegans embryos. Dev. Biol. 215, 253 263.
    • (1999) Dev. Biol. , vol.215 , pp. 253-263
    • Basham, S.E.1    Rose, L.S.2
  • 10
    • 0035202870 scopus 로고    scopus 로고
    • The Caenorhabditis elegans polarity gene ooc-5 encodes a Torsin-related protein of the AAA ATPase superfamily
    • Basham S. E. Rose L. S. (2001) The Caenorhabditis elegans polarity gene ooc-5 encodes a Torsin-related protein of the AAA ATPase superfamily. Development 128, 4645 4656. (Pubitemid 33130444)
    • (2001) Development , vol.128 , Issue.22 , pp. 4645-4656
    • Basham, S.E.1    Rose, L.S.2
  • 12
    • 0027978063 scopus 로고
    • The behavioural and motor consequences of focal lesions of the basal ganglia in man
    • Bhatia K. P. Marsden C. D. (1994) The behavioural and motor consequences of focal lesions of the basal ganglia in man. Brain 117, 859 876. (Pubitemid 24281846)
    • (1994) Brain , vol.117 , Issue.4 , pp. 859-876
    • Bhatia, K.P.1    Marsden, C.D.2
  • 13
    • 0030910350 scopus 로고    scopus 로고
    • 2 receptor-mediated changes in striatopallidal function
    • Black K. J., Gado M. H. Perlmutter J. S. (1997) PET measurement of dopamine D2 receptor-mediated changes in striatopallidal function. J. Neurosci. 17, 3168 3177. (Pubitemid 27175829)
    • (1997) Journal of Neuroscience , vol.17 , Issue.9 , pp. 3168-3177
    • Black, K.J.1    Gado, M.H.2    Perlmutter, J.S.3
  • 14
    • 0030780536 scopus 로고    scopus 로고
    • The maternal par genes and the segregation of cell fate specification activities in early Caenorhabditis elegans embryos
    • Bowerman B., Ingram M. K. Hunter C. P. (1997) The maternal par genes and the segregation of cell fate specification activities in early Caenorhabditis elegans embryos. Development 124, 3815 3826. (Pubitemid 27482978)
    • (1997) Development , vol.124 , Issue.19 , pp. 3815-3826
    • Bowerman, B.1    Ingram, M.K.2    Hunter, C.P.3
  • 15
    • 1942489014 scopus 로고    scopus 로고
    • Perinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors
    • DOI 10.1016/j.neuroscience.2004.01.053, PII S0306452204000922
    • Bragg D. C., Camp S. M., Kaufman C. A., Wilbur J. D., Boston H., Schuback D. E., Hanson P. I., Sena-Esteves M. Breakefield X. O. (2004a) Perinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors. Neuroscience 125, 651 661. (Pubitemid 38510175)
    • (2004) Neuroscience , vol.125 , Issue.3 , pp. 651-661
    • Bragg, D.C.1    Camp, S.M.2    Kaufman, C.A.3    Wilbur, J.D.4    Boston, H.5    Schuback, D.E.6    Hanson, P.I.7    Sena-Esteves, M.8    Breakefield, X.O.9
  • 16
    • 9144246259 scopus 로고    scopus 로고
    • Inhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinA
    • DOI 10.1016/j.mcn.2004.07.009, PII S104474310400168X
    • Bragg D. C., Kaufman C. A., Kock N. Breakefield X. O. (2004b) Inhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinA. Mol. Cell. Neurosci. 27, 417 426. (Pubitemid 39539996)
    • (2004) Molecular and Cellular Neuroscience , vol.27 , Issue.4 , pp. 417-426
    • Bragg, D.C.1    Kaufman, C.A.2    Kock, N.3    Breakefield, X.O.4
  • 17
    • 0032929472 scopus 로고    scopus 로고
    • PET imaging of the pre-synaptic dopamine uptake sites in rapid-onset dystonia-parkinsonism (RDP)
    • DOI 10.1002/1531-8257(199901)14:1<132::AID-MDS1022>3.0.CO;2-J
    • Brashear A., Mulholland G. K., Zheng Q. H., Farlow M. R., Siemers E. R. Hutchins G. D. (1999) PET imaging of the pre-synaptic dopamine uptake sites in rapid-onset dystonia-parkinsonism (RDP). Mov. Disord. 14, 132 137. (Pubitemid 29224688)
    • (1999) Movement Disorders , vol.14 , Issue.1 , pp. 132-137
    • Brashear, A.1    Mulholland, G.K.2    Zheng, Q.-H.3    Farlow, M.R.4    Siemers, E.R.5    Hutchins, G.D.6
  • 18
    • 0034879921 scopus 로고    scopus 로고
    • TorsinA: Movement at many levels
    • DOI 10.1016/S0896-6273(01)00350-6
    • Breakefield X. O., Kamm C. Hanson P. I. (2001) TorsinA: movement at many levels. Neuron 31, 9 12. (Pubitemid 32757083)
    • (2001) Neuron , vol.31 , Issue.1 , pp. 9-12
    • Breakefield, X.O.1    Kamm, C.2    Hanson, P.I.3
  • 19
    • 0142040246 scopus 로고    scopus 로고
    • Dystonia genotypes, phenotypes, and classification
    • Bressman S. B. (2004) Dystonia genotypes, phenotypes, and classification. Adv. Neurol. 94, 101 107.
    • (2004) Adv. Neurol. , vol.94 , pp. 101-107
    • Bressman, S.B.1
  • 20
    • 0022947003 scopus 로고
    • The relative selectivity of anticholinergic drugs for the M1 and M2 muscarinic receptor subtypes
    • Burke R. E. (1986) The relative selectivity of anticholinergic drugs for the M1 and M2 muscarinic receptor subtypes. Mov. Disord. 1, 135 144.
    • (1986) Mov. Disord. , vol.1 , pp. 135-144
    • Burke, R.E.1
  • 21
    • 0037319121 scopus 로고    scopus 로고
    • Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins
    • DOI 10.1093/hmg/ddg027
    • Caldwell G. A., Cao S., Sexton E. G., Gelwix C. C., Bevel J. P. Caldwell K. A. (2003) Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins. Hum. Mol. Genet. 12, 307 319. (Pubitemid 36204427)
    • (2003) Human Molecular Genetics , vol.12 , Issue.3 , pp. 307-319
    • Caldwell, G.A.1    Cao, S.2    Sexton, E.G.3    Gelwix, C.C.4    Bevel, J.P.5    Caldwell, K.A.6
  • 22
    • 33846548556 scopus 로고    scopus 로고
    • + ATPase torsinA at the endoplasmic reticulum
    • DOI 10.1042/BJ20061313
    • Callan A. C., Bunning S., Jones O. T., High S. Swanton E. (2007) Biosynthesis of the dystonia-associated AAA+ ATPase torsinA at the endoplasmic reticulum. Biochem. J. 401, 607 612. (Pubitemid 46166442)
    • (2007) Biochemical Journal , vol.401 , Issue.2 , pp. 607-612
    • Callan, A.C.1    Bunning, S.2    Jones, O.T.3    High, S.4    Swanton, E.5
  • 23
    • 17644392138 scopus 로고    scopus 로고
    • Torsin-mediated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans
    • DOI 10.1523/JNEUROSCI.5157-04.2005
    • Cao S., Gelwix C. C., Caldwell K. A. Caldwell G. A. (2005) Torsin-mediated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans. J. Neurosci. 25, 3801 3812. (Pubitemid 40570413)
    • (2005) Journal of Neuroscience , vol.25 , Issue.15 , pp. 3801-3812
    • Cao, S.1    Gelwix, C.C.2    Caldwell, K.A.3    Caldwell, G.A.4
  • 24
  • 25
    • 27744567561 scopus 로고    scopus 로고
    • Generation and characterization of Dyt1 ΔgAG knock-in mouse as a model for early-onset dystonia
    • DOI 10.1016/j.expneurol.2005.08.025, PII S0014488605003201
    • Dang M. T., Yokoi F., McNaught K. S., Jengelley T. A., Jackson T., Li J. Li Y. (2005) Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. Exp. Neurol. 196, 452 463. (Pubitemid 41607834)
    • (2005) Experimental Neurology , vol.196 , Issue.2 , pp. 452-463
    • Dang, M.T.1    Yokoi, F.2    McNaught, K.S.P.3    Jengelley, T.-A.4    Jackson, T.5    Li, J.6    Li, Y.7
  • 26
    • 33751019482 scopus 로고    scopus 로고
    • Motor deficits and hyperactivity in Dyt1 knockdown mice
    • Dang M. T., Yokoi F., Pence M. A. Li Y. (2006) Motor deficits and hyperactivity in Dyt1 knockdown mice. Neurosci. Res. 56, 470 474.
    • (2006) Neurosci. Res. , vol.56 , pp. 470-474
    • Dang, M.T.1    Yokoi, F.2    Pence, M.A.3    Li, Y.4
  • 28
    • 33847322639 scopus 로고    scopus 로고
    • SGCE missense mutations that cause myoclonus-dystonia syndrome impair ε-sarcoglycan trafficking to the plasma membrane: Modulation by ubiquitination and torsinA
    • DOI 10.1093/hmg/ddl472
    • Esapa C. T., Waite A., Locke M., Benson M. A., Kraus M., McIlhinney R. A., Sillitoe R. V., Beesley P. W. Blake D. J. (2007) SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Hum. Mol. Genet. 16, 327 342. (Pubitemid 46323188)
    • (2007) Human Molecular Genetics , vol.16 , Issue.3 , pp. 327-342
    • Esapa, C.T.1    Waite, A.2    Locke, M.3    Benson, M.A.4    Kraus, M.5    McIlhinney, R.A.J.6    Sillitoe, R.V.7    Beesley, P.W.8    Blake, D.J.9
  • 29
    • 0020518739 scopus 로고
    • High dosage anticholinergic therapy in dystonia
    • Fahn S. (1983) High dosage anticholinergic therapy in dystonia. Neurology 33, 1255 1261.
    • (1983) Neurology , vol.33 , pp. 1255-1261
    • Fahn, S.1
  • 31
  • 32
    • 2442449012 scopus 로고    scopus 로고
    • TorsinA negatively controls neurite outgrowth of SH-SY5Y human neuronal cell line
    • DOI 10.1016/j.brainres.2004.02.080, PII S0006899304004998
    • Ferrari-Toninelli G., Paccioretti S., Francisconi S., Uberti D. Memo M. (2004) TorsinA negatively controls neurite outgrowth of SH-SY5Y human neuronal cell line. Brain Res. 1012, 75 81. (Pubitemid 38648901)
    • (2004) Brain Research , vol.1012 , Issue.1-2 , pp. 75-81
    • Ferrari-Toninelli, G.1    Paccioretti, S.2    Francisconi, S.3    Uberti, D.4    Memo, M.5
  • 33
    • 0025370389 scopus 로고
    • The genetics of idiopathic torsion dystonia
    • Fletcher N. A. (1990) The genetics of idiopathic torsion dystonia. J. Med. Genet. 27, 409 412. (Pubitemid 20219471)
    • (1990) Journal of Medical Genetics , vol.27 , Issue.7 , pp. 409-412
    • Fletcher, N.A.1
  • 35
    • 33746957321 scopus 로고    scopus 로고
    • The diagnosis of dystonia
    • DOI 10.1016/S1474-4422(06)70547-6, PII S1474442206705476
    • Geyer H. L. Bressman S. B. (2006) The diagnosis of dystonia. Lancet Neurol. 5, 780 790. (Pubitemid 44205514)
    • (2006) Lancet Neurology , vol.5 , Issue.9 , pp. 780-790
    • Geyer, H.L.1    Bressman, S.B.2
  • 37
    • 49649120229 scopus 로고    scopus 로고
    • Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope
    • Giles L. M., Chen J., Li L. Chin L. S. (2008) Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope. Hum. Mol. Genet. 17, 2712 2722.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 2712-2722
    • Giles, L.M.1    Chen, J.2    Li, L.3    Chin, L.S.4
  • 38
    • 1642290757 scopus 로고    scopus 로고
    • Aberrant Cellular Behavior of Mutant TorsinA Implicates Nuclear Envelope Dysfunction in DYT1 Dystonia
    • DOI 10.1523/JNEUROSCI.4461-03.2004
    • Gonzalez-Alegre P. Paulson H. L. (2004) Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J. Neurosci. 24, 2593 2601. (Pubitemid 38380935)
    • (2004) Journal of Neuroscience , vol.24 , Issue.11 , pp. 2593-2601
    • Gonzalez-Alegre, P.1    Paulson, H.L.2
  • 40
    • 15444374750 scopus 로고    scopus 로고
    • The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein
    • DOI 10.1083/jcb.200411026
    • Goodchild R. E. Dauer W. T. (2005) The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. J. Cell Biol. 168, 855 862. (Pubitemid 40397000)
    • (2005) Journal of Cell Biology , vol.168 , Issue.6 , pp. 855-862
    • Goodchild, R.E.1    Dauer, W.T.2
  • 41
    • 29144460260 scopus 로고    scopus 로고
    • Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope
    • DOI 10.1016/j.neuron.2005.11.010, PII S0896627305009529
    • Goodchild R. E., Kim C. E. Dauer W. T. (2005) Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron 48, 923 932. (Pubitemid 41814697)
    • (2005) Neuron , vol.48 , Issue.6 , pp. 923-932
    • Goodchild, R.E.1    Kim, C.E.2    Dauer, W.T.3
  • 42
    • 43149106506 scopus 로고    scopus 로고
    • The dystonia-associated protein torsinA modulates synaptic vesicle recycling
    • Granata A., Watson R., Collinson L. M., Schiavo G. Warner T. T. (2008) The dystonia-associated protein torsinA modulates synaptic vesicle recycling. J. Biol. Chem. 283, 7568 7579.
    • (2008) J. Biol. Chem. , vol.283 , pp. 7568-7579
    • Granata, A.1    Watson, R.2    Collinson, L.M.3    Schiavo, G.4    Warner, T.T.5
  • 44
    • 0030740252 scopus 로고    scopus 로고
    • Structure and conformational changes in NSF and its membrane receptor complexes visualized by quick-freeze/deep-etch electron microscopy
    • DOI 10.1016/S0092-8674(00)80512-7
    • Hanson P. I., Roth R., Morisaki H., Jahn R. Heuser J. E. (1997) Structure and conformational changes in NSF and its membrane receptor complexes visualized by quick-freeze/deep-etch electron microscopy. Cell 90, 523 535. (Pubitemid 27347242)
    • (1997) Cell , vol.90 , Issue.3 , pp. 523-535
    • Hanson, P.I.1    Roth, R.2    Morisaki, H.3    Jahn, R.4    Heuser, J.E.5
  • 48
    • 33645078104 scopus 로고    scopus 로고
    • Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics
    • Hewett J. W., Zeng J., Niland B. P., Bragg D. C. Breakefield X. O. (2006) Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics. Neurobiol. Dis. 22, 98 111.
    • (2006) Neurobiol. Dis. , vol.22 , pp. 98-111
    • Hewett, J.W.1    Zeng, J.2    Niland, B.P.3    Bragg, D.C.4    Breakefield, X.O.5
  • 52
    • 0033366466 scopus 로고    scopus 로고
    • Snapin: A SNARE-associated protein implicated in synaptic transmission
    • DOI 10.1038/5673
    • Ilardi J. M., Mochida S. Sheng Z. H. (1999) Snapin: a SNARE-associated protein implicated in synaptic transmission. Nat. Neurosci. 2, 119 124. (Pubitemid 30491310)
    • (1999) Nature Neuroscience , vol.2 , Issue.2 , pp. 119-124
    • Ilardi, J.M.1    Mochida, S.2    Sheng, Z.-H.3
  • 53
    • 1642325936 scopus 로고    scopus 로고
    • Evolutionary history and higher order classification of AAA+ ATPases
    • DOI 10.1016/j.jsb.2003.10.010, PII S1047847703002235
    • Iyer L. M., Leipe D. D., Koonin E. V. Aravind L. (2004) Evolutionary history and higher order classification of AAA+ ATPases. J. Struct. Biol. 146, 11 31. (Pubitemid 38369015)
    • (2004) Journal of Structural Biology , vol.146 , Issue.1-2 , pp. 11-31
    • Iyer, L.M.1    Leipe, D.D.2    Koonin, E.V.3    Aravind, L.4
  • 54
    • 0032576605 scopus 로고    scopus 로고
    • Aggresomes: A cellular response to misfolded proteins
    • DOI 10.1083/jcb.143.7.1883
    • Johnston J. A., Ward C. L. Kopito R. R. (1998) Aggresomes: a cellular response to misfolded proteins. J. Cell Biol. 143, 1883 1898. (Pubitemid 29022611)
    • (1998) Journal of Cell Biology , vol.143 , Issue.7 , pp. 1883-1898
    • Johnston, J.A.1    Ward, C.L.2    Kopito, R.R.3
  • 56
    • 44949188596 scopus 로고    scopus 로고
    • Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism
    • Kamm C., Fischer H., Garavaglia B. et al. (2008) Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology 70, 2261 2262.
    • (2008) Neurology , vol.70 , pp. 2261-2262
    • Kamm, C.1    Fischer, H.2    Garavaglia, B.3
  • 57
    • 0034640089 scopus 로고    scopus 로고
    • PARsing embryonic polarity
    • Kemphues K. (2000) PARsing embryonic polarity. Cell 101, 345 348.
    • (2000) Cell , vol.101 , pp. 345-348
    • Kemphues, K.1
  • 59
    • 33645814863 scopus 로고    scopus 로고
    • Effects of genetic variations in the dystonia protein torsinA: Identification of polymorphism at residue 216 as protein modifier
    • Kock N., Naismith T. V., Boston H. E., Ozelius L. J., Corey D. P., Breakefield X. O. Hanson P. I. (2006) Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum. Mol. Genet. 15, 1355 1364.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 1355-1364
    • Kock, N.1    Naismith, T.V.2    Boston, H.E.3    Ozelius, L.J.4    Corey, D.P.5    Breakefield, X.O.6    Hanson, P.I.7
  • 60
    • 5744240629 scopus 로고    scopus 로고
    • A Drosophila model of early onset torsion dystonia suggests impairment in TGF-β signaling
    • DOI 10.1093/hmg/ddh208
    • Koh Y. H., Rehfeld K. Ganetzky B. (2004) A Drosophila model of early onset torsion dystonia suggests impairment in TGF-beta signaling. Hum. Mol. Genet. 13, 2019 2030. (Pubitemid 39377826)
    • (2004) Human Molecular Genetics , vol.13 , Issue.18 , pp. 2019-2030
    • Koh, Y.-H.1    Rehfeld, K.2    Ganetzky, B.3
  • 61
    • 0035856869 scopus 로고    scopus 로고
    • Immunocytochemical characterization of torsin proteins in mouse brain
    • DOI 10.1016/S0006-8993(01)03014-1, PII S0006899301030141
    • Konakova M. Pulst S. M. (2001) Immunocytochemical characterization of torsin proteins in mouse brain. Brain Res. 922, 1 8. (Pubitemid 33152839)
    • (2001) Brain Research , vol.922 , Issue.1 , pp. 1-8
    • Konakova, M.1    Pulst, S.M.2
  • 62
    • 25144442749 scopus 로고    scopus 로고
    • Dystonia-associated forms of TorsinA are deficient in ATPase activity
    • DOI 10.1385/JMN:25:1:105
    • Konakova M. Pulst S. M. (2005) Dystonia-associated forms of torsinA are deficient in ATPase activity. J. Mol. Neurosci. 25, 105 117. (Pubitemid 41389370)
    • (2005) Journal of Molecular Neuroscience , vol.25 , Issue.1 , pp. 105-117
    • Konakova, M.1    Pulst, S.M.2
  • 63
    • 0034970023 scopus 로고    scopus 로고
    • Cellular distribution of torsin A and torsin B in normal human brain
    • Konakova M., Huynh D. P., Yong W. Pulst S. M. (2001) Cellular distribution of torsin A and torsin B in normal human brain. Arch. Neurol. 58, 921 927. (Pubitemid 32537467)
    • (2001) Archives of Neurology , vol.58 , Issue.6 , pp. 921-927
    • Konakova, M.1    Huynh, D.P.2    Yong, W.3    Pulst, S.M.4
  • 65
    • 0347284276 scopus 로고    scopus 로고
    • TorsinA, the gene linked to early-onset dystonia, is upregulated by the dopaminergic toxin MPTP in mice
    • DOI 10.1016/j.neulet.2003.10.069
    • Kuner R., Teismann P., Trutzel A., Naim J., Richter A., Schmidt N., Bach A., Ferger B. Schneider A. (2004) TorsinA, the gene linked to early-onset dystonia, is upregulated by the dopaminergic toxin MPTP in mice. Neurosci. Lett. 355, 126 130. (Pubitemid 38077201)
    • (2004) Neuroscience Letters , vol.355 , Issue.1-2 , pp. 126-130
    • Kuner, R.1    Teismann, P.2    Trutzel, A.3    Naim, J.4    Richter, A.5    Schmidt, N.6    Bach, A.7    Ferger, B.8    Schneider, A.9
  • 66
    • 0346333303 scopus 로고    scopus 로고
    • Recombinant Expression, Purification, and Comparative Characterization of TorsinA and Its Torsion Dystonia-Associated Variant ΔE-TorsinA
    • DOI 10.1021/bi0349569
    • Kustedjo K., Deechongkit S., Kelly J. W. Cravatt B. F. (2003) Recombinant expression, purification, and comparative characterization of torsinA and its torsion dystonia-associated variant Delta E-torsinA. Biochemistry 42, 15333 15341. (Pubitemid 38031732)
    • (2003) Biochemistry , vol.42 , Issue.51 , pp. 15333-15341
    • Kustedjo, K.1    Deechongkit, S.2    Kelly, J.W.3    Cravatt, B.F.4
  • 69
    • 38549119467 scopus 로고    scopus 로고
    • Chaperones in control of protein disaggregation
    • Liberek K., Lewandowska A. Zietkiewicz S. (2008) Chaperones in control of protein disaggregation. EMBO J. 27, 328 335.
    • (2008) EMBO J. , vol.27 , pp. 328-335
    • Liberek, K.1    Lewandowska, A.2    Zietkiewicz, S.3
  • 70
    • 0042326841 scopus 로고    scopus 로고
    • Characterization of human torsinA and its dystonia-associated mutant form
    • DOI 10.1042/BJ20030258
    • Liu Z., Zolkiewska A. Zolkiewski M. (2003) Characterization of human torsinA and its dystonia-associated mutant form. Biochem. J. 374, 117 122. (Pubitemid 37046935)
    • (2003) Biochemical Journal , vol.374 , Issue.1 , pp. 117-122
    • Liu, Z.1    Zolkiewska, A.2    Zolkiewski, M.3
  • 71
    • 1242283848 scopus 로고    scopus 로고
    • Protein Binding and Disruption by Clp/Hsp100 Chaperones
    • DOI 10.1016/S0969-2126(04)00027-9
    • Maurizi M. R. Xia D. (2004) Protein binding and disruption by Clp/Hsp100 chaperones. Structure 12, 175 183. (Pubitemid 38224541)
    • (2004) Structure , vol.12 , Issue.2 , pp. 175-183
    • Maurizi, M.R.1    Xia, D.2
  • 74
    • 20344404225 scopus 로고    scopus 로고
    • Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells
    • DOI 10.1002/mds.20351
    • Misbahuddin A., Placzek M. R., Taanman J. W., Gschmeissner S., Schiavo G., Cooper J. M. Warner T. T. (2005) Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells. Mov. Disord. 20, 432 440. (Pubitemid 40779018)
    • (2005) Movement Disorders , vol.20 , Issue.4 , pp. 432-440
    • Misbahuddin, A.1    Placzek, M.R.2    Taanman, J.-W.3    Gschmeissner, S.4    Schiavo, G.5    Cooper, J.M.6    Warner, T.T.7
  • 75
    • 0033799538 scopus 로고    scopus 로고
    • Distinct requirements for the AP-3 adaptor complex in pigment granule and synaptic vesicle biogenesis in Drosophila melanogaster
    • Mullins C., Hartnell L. M. Bonifacino J. S. (2000) Distinct requirements for the AP-3 adaptor complex in pigment granule and synaptic vesicle biogenesis in Drosophila melanogaster. Mol. Gen. Genet. 263, 1003 1014.
    • (2000) Mol. Gen. Genet. , vol.263 , pp. 1003-1014
    • Mullins, C.1    Hartnell, L.M.2    Bonifacino, J.S.3
  • 76
    • 0033807580 scopus 로고    scopus 로고
    • Unilateral lesions of the globus pallidus: Report of four patients presenting with focal or segmental dystonia
    • Munchau A., Mathen D., Cox T., Quinn N. P., Marsden C. D. Bhatia K. P. (2000) Unilateral lesions of the globus pallidus: report of four patients presenting with focal or segmental dystonia. J. Neurol. Neurosurg. Psychiatry 69, 494 498.
    • (2000) J. Neurol. Neurosurg. Psychiatry , vol.69 , pp. 494-498
    • Munchau, A.1    Mathen, D.2    Cox, T.3    Quinn, N.P.4    Marsden, C.D.5    Bhatia, K.P.6
  • 77
    • 33750818947 scopus 로고    scopus 로고
    • Down-regulation of torp4a, encoding the Drosophila homologue of torsinA, results in increased neuronal degeneration
    • Muraro N. I. Moffat K. G. (2006) Down-regulation of torp4a, encoding the Drosophila homologue of torsinA, results in increased neuronal degeneration. J. Neurobiol. 66, 1338 1353.
    • (2006) J. Neurobiol. , vol.66 , pp. 1338-1353
    • Muraro, N.I.1    Moffat, K.G.2
  • 79
    • 0031905651 scopus 로고    scopus 로고
    • 123I] β-CIT
    • DOI 10.1002/mds.870130219
    • Naumann M., Pirker W., Reiners K., Lange K. W., Becker G. Brucke T. (1998) Imaging the pre- and postsynaptic side of striatal dopaminergic synapses in idiopathic cervical dystonia: a SPECT study using [123I] epidepride and [123I] beta-CIT. Mov. Disord. 13, 319 323. (Pubitemid 28127809)
    • (1998) Movement Disorders , vol.13 , Issue.2 , pp. 319-323
    • Naumann, M.1    Pirker, W.2    Reiners, K.3    Lange, K.W.4    Becker, G.5    Brucke, T.6
  • 80
    • 0032969563 scopus 로고    scopus 로고
    • +: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes
    • Neuwald A. F., Aravind L., Spouge J. L. Koonin E. V. (1999) AAA+: a class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes. Genome Res. 9, 27 43. (Pubitemid 29095146)
    • (1999) Genome Research , vol.9 , Issue.1 , pp. 27-43
    • Neuwald, A.F.1    Aravind, L.2    Spouge, J.L.3    Koonin, E.V.4
  • 81
    • 33947317259 scopus 로고    scopus 로고
    • Neuronal and non-neuronal functions of the AP-3 sorting machinery
    • DOI 10.1242/jcs.03365
    • Newell-Litwa K., Seong E., Burmeister M. Faundez V. (2007) Neuronal and non-neuronal functions of the AP-3 sorting machinery. J. Cell Sci. 120, 531 541. (Pubitemid 46437888)
    • (2007) Journal of Cell Science , vol.120 , Issue.4 , pp. 531-541
    • Newell-Liwa, K.1    Seong, E.2    Burmeister, M.3    Faundez, V.4
  • 82
    • 0027354029 scopus 로고
    • Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis
    • Nygaard T. G. (1993) Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis. Adv. Neurol. 60, 577 585.
    • (1993) Adv. Neurol. , vol.60 , pp. 577-585
    • Nygaard, T.G.1
  • 83
    • 0037134974 scopus 로고    scopus 로고
    • Normal localization of ΔF323-Y328 mutant torsinA in transfected human cells
    • DOI 10.1016/S0304-3940(02)00400-7, PII S0304394002004007
    • O'Farrell C., Hernandez D. G., Evey C., Singleton A. B. Cookson M. R. (2002) Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells. Neurosci. Lett. 327, 75 78. (Pubitemid 34722411)
    • (2002) Neuroscience Letters , vol.327 , Issue.2 , pp. 75-78
    • O'Farrell, C.1    Hernandez, D.G.2    Evey, C.3    Singleton, A.B.4    Cookson, M.R.5
  • 84
    • 0032404443 scopus 로고    scopus 로고
    • The AP-3 complex: A coat of many colours
    • DOI 10.1016/S0962-8924(98)01295-1, PII S0962892498012951
    • Odorizzi G., Cowles C. R. Emr S. D. (1998) The AP-3 complex: a coat of many colours. Trends Cell Biol. 8, 282 288. (Pubitemid 28310226)
    • (1998) Trends in Cell Biology , vol.8 , Issue.7 , pp. 282-288
    • Odorizzi, G.1    Cowles, C.R.2    Emr, S.D.3
  • 85
    • 0034885052 scopus 로고    scopus 로고
    • + superfamily ATPases: Common structure-diverse function
    • DOI 10.1046/j.1365-2443.2001.00447.x
    • Ogura T. Wilkinson A. J. (2001) AAA+ superfamily ATPases: common structure-diverse function. Genes Cells 6, 575 597. (Pubitemid 32747198)
    • (2001) Genes to Cells , vol.6 , Issue.7 , pp. 575-597
    • Ogura, T.1    Wilkinson, A.J.2
  • 87
    • 0031609551 scopus 로고    scopus 로고
    • The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family
    • Ozelius L. J., Hewett J. W., Page C. E. et al. (1998) The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. Adv. Neurol. 78, 93 105.
    • (1998) Adv. Neurol. , vol.78 , pp. 93-105
    • Ozelius, L.J.1    Hewett, J.W.2    Page, C.E.3
  • 89
    • 0142072112 scopus 로고    scopus 로고
    • Dysfunction of dopaminergic pathways in dystonia
    • Perlmutter J. S. Mink J. W. (2004) Dysfunction of dopaminergic pathways in dystonia. Adv. Neurol. 94, 163 170.
    • (2004) Adv. Neurol. , vol.94 , pp. 163-170
    • Perlmutter, J.S.1    Mink, J.W.2
  • 91
    • 0030659028 scopus 로고    scopus 로고
    • MPTP induces dystonia and parkinsonism: Clues to the pathophysiology of dystonia
    • Perlmutter J. S., Tempel L. W., Black K. J., Parkinson D. Todd R. D. (1997b) MPTP induces dystonia and parkinsonism. Clues to the pathophysiology of dystonia. Neurology 49, 1432 1438. (Pubitemid 27495655)
    • (1997) Neurology , vol.49 , Issue.5 , pp. 1432-1438
    • Perlmutter, J.S.1    Tempel, L.W.2    Black, K.J.3    Parkinson, D.4    Todd, R.D.5
  • 92
    • 33750285137 scopus 로고    scopus 로고
    • Molecular defects of the dystonia-causing torsinA mutation
    • DOI 10.1097/WNR.0b013e3280101220, PII 0000175620061106000013
    • Pham P., Frei K. P., Woo W. Truong D. D. (2006) Molecular defects of the dystonia-causing torsinA mutation. Neuroreport 17, 1725 1728. (Pubitemid 44621572)
    • (2006) NeuroReport , vol.17 , Issue.16 , pp. 1725-1728
    • Pham, P.1    Frei, K.P.2    Woo, W.3    Truong, D.D.4
  • 93
    • 33749984203 scopus 로고    scopus 로고
    • Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia
    • DOI 10.1016/j.nbd.2006.07.006, PII S0969996106001689
    • Pisani A., Martella G., Tscherter A., Bonsi P., Sharma N., Bernardi G. Standaert D. G. (2006) Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia. Neurobiol. Dis. 24, 318 325. (Pubitemid 44572750)
    • (2006) Neurobiology of Disease , vol.24 , Issue.2 , pp. 318-325
    • Pisani, A.1    Martella, G.2    Tscherter, A.3    Bonsi, P.4    Sharma, N.5    Bernardi, G.6    Standaert, D.G.7
  • 94
    • 0027381833 scopus 로고
    • 18F]dopa uptake in familial idiopathic dystonia
    • Playford E. D., Fletcher N. A., Sawle G. V., Marsden C. D. Brooks D. J. (1993) Striatal [18F]dopa uptake in familial idiopathic dystonia. Brain 116, 1191 1199. (Pubitemid 23329889)
    • (1993) Brain , vol.116 , Issue.5 , pp. 1191-1199
    • Playford, E.D.1    Fletcher, N.A.2    Sawle, G.V.3    Marsden, C.D.4    Brooks, D.J.5
  • 95
    • 0028819262 scopus 로고
    • Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
    • Risch N., de Leon D., Ozelius L., Kramer P., Almasy L., Singer B., Fahn S., Breakefield X. Bressman S. (1995) Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat. Genet. 9, 152 159.
    • (1995) Nat. Genet. , vol.9 , pp. 152-159
    • Risch, N.1    De Leon, D.2    Ozelius, L.3    Kramer, P.4    Almasy, L.5    Singer, B.6    Fahn, S.7    Breakefield, X.8    Bressman, S.9
  • 96
    • 34250872219 scopus 로고    scopus 로고
    • Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
    • DOI 10.1086/518427
    • Risch N. J., Bressman S. B., Senthil G. Ozelius L. J. (2007) Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am. J. Hum. Genet. 80, 1188 1193. (Pubitemid 47579354)
    • (2007) American Journal of Human Genetics , vol.80 , Issue.6 , pp. 1188-1193
    • Risch, N.J.1    Bressman, S.B.2    Senthil, G.3    Ozelius, L.J.4
  • 102
    • 0033987354 scopus 로고    scopus 로고
    • Immunohistochemical localization and distribution of torsinA in normal human and rat brain
    • DOI 10.1016/S0006-8993(99)02232-5, PII S0006899399022325
    • Shashidharan P., Kramer B. C., Walker R. H., Olanow C. W. Brin M. F. (2000b) Immunohistochemical localization and distribution of torsinA in normal human and rat brain. Brain Res. 853, 197 206. (Pubitemid 30035219)
    • (2000) Brain Research , vol.853 , Issue.2 , pp. 197-206
    • Shashidharan, P.1    Kramer, B.C.2    Walker, R.H.3    Olanow, C.W.4    Brin, M.F.5
  • 104
    • 0035800729 scopus 로고    scopus 로고
    • Functional Domains of the ClpA and ClpX Molecular Chaperones Identified by Limited Proteolysis and Deletion Analysis
    • DOI 10.1074/jbc.M103489200
    • Singh S. K., Rozycki J., Ortega J., Ishikawa T., Lo J., Steven A. C. Maurizi M. R. (2001) Functional domains of the ClpA and ClpX molecular chaperones identified by limited proteolysis and deletion analysis. J. Biol. Chem. 276, 29420 29429. (Pubitemid 37452037)
    • (2001) Journal of Biological Chemistry , vol.276 , Issue.31 , pp. 29420-29429
    • Singh, S.K.1    Rozycki, J.2    Ortega, J.3    Ishikawa, T.4    Lo, J.5    Steven, A.C.6    Maurizi, M.R.7
  • 105
    • 0034926292 scopus 로고    scopus 로고
    • Sequential organization of multiple movements: Involvement of cortical motor areas
    • DOI 10.1146/annurev.neuro.24.1.631
    • Tanji J. (2001) Sequential organization of multiple movements: involvement of cortical motor areas. Annu. Rev. Neurosci. 24, 631 651. (Pubitemid 32695241)
    • (2001) Annual Review of Neuroscience , vol.24 , pp. 631-651
    • Tanji, J.1
  • 107
    • 0027479150 scopus 로고
    • Altered tau and neurofilament proteins in neurodegenerative diseases: Diagnostic implications for Alzheimer's disease and Lewy body dementias
    • Trojanowski J. Q., Schmidt M. L., Shin R. W., Bramblett G. T., Rao D. Lee V. M. (1993) Altered tau and neurofilament proteins in neuro-degenerative diseases: diagnostic implications for Alzheimer's disease and Lewy body dementias. Brain Pathol. 3, 45 54. (Pubitemid 23046375)
    • (1993) Brain Pathology , vol.3 , Issue.1 , pp. 45-54
    • Trojanowski, J.Q.1    Schmidt, M.L.2    Shin, R.-W.3    Bramblett, G.T.4    Rao, D.5    Lee, V.M.-Y.6
  • 108
    • 0034632063 scopus 로고    scopus 로고
    • AAA proteins: Lords of the ring
    • Vale R. D. (2000) AAA proteins. Lords of the ring. J. Cell Biol. 150, F13 F19. (Pubitemid 30480221)
    • (2000) Journal of Cell Biology , vol.150 , Issue.1
    • Vale, R.D.1
  • 109
    • 33644963223 scopus 로고    scopus 로고
    • Developmental patterns of torsinA and torsinB expression
    • Vasudevan A., Breakefield X. O. Bhide P. G. (2006) Developmental patterns of torsinA and torsinB expression. Brain Res. 1073-1074, 139 145.
    • (2006) Brain Res. , pp. 139-145
    • Vasudevan, A.1    Breakefield, X.O.2    Bhide, P.G.3
  • 110
    • 0037039217 scopus 로고    scopus 로고
    • TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia
    • Walker R. H., Brin M. F., Sandu D., Good P. F. Shashidharan P. (2002) TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia. Neurology 58, 120 124. (Pubitemid 34041948)
    • (2002) Neurology , vol.58 , Issue.1 , pp. 120-124
    • Walker, R.H.1    Brin, M.F.2    Sandu, D.3    Good, P.F.4    Shashidharan, P.5
  • 111
    • 0141836952 scopus 로고    scopus 로고
    • Torsin A immunoreactivity in inclusion bodies in trinucleotide repeat diseases
    • DOI 10.1002/mds.10487
    • Walker R. H., Good P. F. Shashidharan P. (2003) TorsinA immunoreactivity in inclusion bodies in trinucleotide repeat diseases. Mov. Disord. 18, 1041 1044. (Pubitemid 37185212)
    • (2003) Movement Disorders , vol.18 , Issue.9 , pp. 1041-1044
    • Walker, R.H.1    Good, P.F.2    Shashidharan, P.3
  • 112
    • 3343026533 scopus 로고    scopus 로고
    • Developmental expression of rat torsinA transcript and protein
    • DOI 10.1016/j.devbrainres.2004.05.012, PII S0165380604001737
    • Xiao J., Gong S., Zhao Y. LeDoux M. S. (2004) Developmental expression of rat torsinA transcript and protein. Brain Res. Dev. Brain Res. 152, 47 60. (Pubitemid 38993287)
    • (2004) Developmental Brain Research , vol.152 , Issue.1 , pp. 47-60
    • Xiao, J.1    Gong, S.2    Zhao, Y.3    LeDoux, M.S.4
  • 113
    • 38849083925 scopus 로고    scopus 로고
    • Motor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout mice
    • Yokoi F., Dang M. T., Mitsui S., Li J. Li Y. (2008) Motor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout mice. J. Biochem. 143, 39 47.
    • (2008) J. Biochem. , vol.143 , pp. 39-47
    • Yokoi, F.1    Dang, M.T.2    Mitsui, S.3    Li, J.4    Li, Y.5
  • 114
    • 41149160099 scopus 로고    scopus 로고
    • Abnormal motor function and dopamine neurotransmission in DYT1 DeltaGAG transgenic mice
    • Zhao Y., DeCuypere M. LeDoux M. S. (2008a) Abnormal motor function and dopamine neurotransmission in DYT1 DeltaGAG transgenic mice. Exp. Neurol. 210, 719 730.
    • (2008) Exp. Neurol. , vol.210 , pp. 719-730
    • Zhao, Y.1    Decuypere, M.2    Ledoux, M.S.3
  • 115
    • 49349115805 scopus 로고    scopus 로고
    • Glial elements contribute to stress-induced torsinA expression in the CNS and peripheral nervous system
    • Zhao Y., Xiao J., Ueda M., Wang Y., Hines M., Nowak Jr T. S. LeDoux M. S. (2008b) Glial elements contribute to stress-induced torsinA expression in the CNS and peripheral nervous system. Neuroscience 155, 439 453.
    • (2008) Neuroscience , vol.155 , pp. 439-453
    • Zhao, Y.1    Xiao, J.2    Ueda, M.3    Wang, Y.4    Hines, M.5    Nowak Jr, T.S.6    Ledoux, M.S.7
  • 117
    • 0035400710 scopus 로고    scopus 로고
    • Molecular chaperones and the regulation of neurotransmitter exocytosis
    • DOI 10.1016/S0006-2952(01)00648-7, PII S0006295201006487
    • Zinsmaier K. E. Bronk P. (2001) Molecular chaperones and the regulation of neurotransmitter exocytosis. Biochem. Pharmacol. 62, 1 11. (Pubitemid 32488972)
    • (2001) Biochemical Pharmacology , vol.62 , Issue.1 , pp. 1-11
    • Zinsmaier, K.E.1    Bronk, P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.