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Volumn 60, Issue 1, 2003, Pages 97-103

A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product

Author keywords

[No Author keywords available]

Indexed keywords

CAGA PROTEIN; GENE PRODUCT; POLYGLUTAMINE;

EID: 0037230091     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.60.1.97     Document Type: Article
Times cited : (9)

References (38)
  • 1
    • 0035393427 scopus 로고    scopus 로고
    • SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
    • Nakamura K, Jeong SY, Uchihara T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet. 2001;10:1441-1448.
    • (2001) Hum Mol Genet , vol.10 , pp. 1441-1448
    • Nakamura, K.1    Jeong, S.Y.2    Uchihara, T.3
  • 2
    • 0034094873 scopus 로고    scopus 로고
    • Glutamine repeats and neurodegeneration
    • Zoghbi HY, Orr HT. Glutamine repeats and neurodegeneration. Ann Rev Neurosci. 2000;23:217-247.
    • (2000) Ann Rev Neurosci , vol.23 , pp. 217-247
    • Zoghbi, H.Y.1    Orr, H.T.2
  • 3
    • 0035067438 scopus 로고    scopus 로고
    • The selective vulnerability of nerve cells in Huntington's disease
    • Sieradzan KA, Mann DM. The selective vulnerability of nerve cells in Huntington's disease. Neuropathol Appl Neurobiol. 2001;27:1-21.
    • (2001) Neuropathol Appl Neurobiol , vol.27 , pp. 1-21
    • Sieradzan, K.A.1    Mann, D.M.2
  • 4
  • 5
    • 0033995175 scopus 로고    scopus 로고
    • Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1
    • Lin X, Antalffy B, Kang D, Orr HT, Zoghbi HY. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci. 2000;3:157-163.
    • (2000) Nat Neurosci , vol.3 , pp. 157-163
    • Lin, X.1    Antalffy, B.2    Kang, D.3    Orr, H.T.4    Zoghbi, H.Y.5
  • 6
    • 14344276400 scopus 로고    scopus 로고
    • Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions
    • Lebre AS, Jamot L, Takahashi J, et al. Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions. Hum Mol Genet. 2001;10:1201-1213.
    • (2001) Hum Mol Genet , vol.10 , pp. 1201-1213
    • Lebre, A.S.1    Jamot, L.2    Takahashi, J.3
  • 7
    • 0032191848 scopus 로고    scopus 로고
    • Neuronal intranuclear inclusions in polyglutamine diseases: Nuclear weapons or nuclear fallout?
    • Kim TW, Tanzi RE. Neuronal intranuclear inclusions in polyglutamine diseases: nuclear weapons or nuclear fallout? Neuron. 1998;21:657-659.
    • (1998) Neuron , vol.21 , pp. 657-659
    • Kim, T.W.1    Tanzi, R.E.2
  • 8
    • 0034906754 scopus 로고    scopus 로고
    • Alternative RNA splicing in the nervous system
    • Grabowski PJ, Black DL. Alternative RNA splicing in the nervous system. Prog Neurobiol. 2001;65:289-308.
    • (2001) Prog Neurobiol , vol.65 , pp. 289-308
    • Grabowski, P.J.1    Black, D.L.2
  • 9
    • 0036337915 scopus 로고    scopus 로고
    • A genomic view of alternative splicing
    • Modrek B, Lee C. A genomic view of alternative splicing. Nat Genet. 2002;30:13-19.
    • (2002) Nat Genet , vol.30 , pp. 13-19
    • Modrek, B.1    Lee, C.2
  • 10
    • 0028017992 scopus 로고
    • Identification and characterization of the gene causing type 1 spinocerebellar ataxia
    • Banfi S, Servadio A, Chung MY, et al. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 1994;7:513-520.
    • (1994) Nat Genet , vol.7 , pp. 513-520
    • Banfi, S.1    Servadio, A.2    Chung, M.Y.3
  • 11
    • 0035804675 scopus 로고    scopus 로고
    • Identification of alternative splicing of spinocerebellar ataxia type 2 gene
    • Affaitati A, de Cristofaro T, Feliciello A, Varrone S. Identification of alternative splicing of spinocerebellar ataxia type 2 gene. Gene. 2001;267:89-93.
    • (2001) Gene , vol.267 , pp. 89-93
    • Affaitati, A.1    De Cristofaro, T.2    Feliciello, A.3    Varrone, S.4
  • 12
    • 0034279182 scopus 로고    scopus 로고
    • The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes
    • Restituito S, Thompson RM, Eliet J, et al. The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes. J Neurosci. 2000;20:6394-6403.
    • (2000) J Neurosci , vol.20 , pp. 6394-6403
    • Restituito, S.1    Thompson, R.M.2    Eliet, J.3
  • 13
    • 7344234800 scopus 로고    scopus 로고
    • An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients
    • Schmidt T, Landwehrmeyer GB, Schmitt I, et al. An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients. Brain Pathol. 1998;8:669-679.
    • (1998) Brain Pathol , vol.8 , pp. 669-679
    • Schmidt, T.1    Landwehrmeyer, G.B.2    Schmitt, I.3
  • 14
    • 0032425541 scopus 로고    scopus 로고
    • Heterogeneous intracellular localization and expression of ataxin-3
    • Trottier Y, Cancel G, An-Gourfinkel I, et al. Heterogeneous intracellular localization and expression of ataxin-3. Neurobiol Dis. 1998;5:335-347.
    • (1998) Neurobiol Dis , vol.5 , pp. 335-347
    • Trottier, Y.1    Cancel, G.2    An-Gourfinkel, I.3
  • 15
    • 0027370252 scopus 로고
    • Differential 3′ polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression
    • Restituito S, Thompson RM, Eliet J, et al. Differential 3′ polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression. Hum Mol Genet. 1993;2:1541-1545.
    • (1993) Hum Mol Genet , vol.2 , pp. 1541-1545
    • Restituito, S.1    Thompson, R.M.2    Eliet, J.3
  • 16
    • 0028169646 scopus 로고
    • Autosomal dominant cerebellar ataxia with retinal degeneration: Clinical, neuropathologic, and genetic analysis of a large kindred
    • Gouw LG, Digre KB, Harris CP, Haines JH, Ptacek LJ. Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. Neurology. 1994;44:1441-1447.
    • (1994) Neurology , vol.44 , pp. 1441-1447
    • Gouw, L.G.1    Digre, K.B.2    Harris, C.P.3    Haines, J.H.4    Ptacek, L.J.5
  • 17
    • 16944364511 scopus 로고    scopus 로고
    • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
    • David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 1997;17:65-70.
    • (1997) Nat Genet , vol.17 , pp. 65-70
    • David, G.1    Abbas, N.2    Stevanin, G.3
  • 19
    • 0027249595 scopus 로고
    • dbEST - Database for "expressed sequence tags."
    • Boguski MS, Lowe TM, Tolstoshev CM. dbEST - database for "expressed sequence tags." Nat Genet. 1993;4:332-333.
    • (1993) Nat Genet , vol.4 , pp. 332-333
    • Boguski, M.S.1    Lowe, T.M.2    Tolstoshev, C.M.3
  • 21
    • 0035288035 scopus 로고    scopus 로고
    • Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients
    • Einum DD, Townsend JJ, Ptacek LJ, Fu YH. Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients. Neurogenetics. 2001;3:83-90.
    • (2001) Neurogenetics , vol.3 , pp. 83-90
    • Einum, D.D.1    Townsend, J.J.2    Ptacek, L.J.3    Fu, Y.H.4
  • 23
    • 0034326362 scopus 로고    scopus 로고
    • Analysis of canonical and non-canonical splice sites in mammalian genomes
    • Burset M, Seledtsov IA, Solovyev VV. Analysis of canonical and non-canonical splice sites in mammalian genomes. Nucleic Acids Res. 2000;28:4364-4375.
    • (2000) Nucleic Acids Res , vol.28 , pp. 4364-4375
    • Burset, M.1    Seledtsov, I.A.2    Solovyev, V.V.3
  • 24
    • 0034643861 scopus 로고    scopus 로고
    • Conserved phosphoprotein interaction motif is functionally interchangeable between ataxin-7 and arrestins
    • Mushegian AR, Vishnivetskiy SA, Gurevich VV. Conserved phosphoprotein interaction motif is functionally interchangeable between ataxin-7 and arrestins. Biochemistry. 2000;39:6809-6813.
    • (2000) Biochemistry , vol.39 , pp. 6809-6813
    • Mushegian, A.R.1    Vishnivetskiy, S.A.2    Gurevich, V.V.3
  • 25
    • 7144229376 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions
    • Holmberg M, Duyckaerts C, Durr A, et al. Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. Hum Mol Genet. 1998;7:913-918.
    • (1998) Hum Mol Genet , vol.7 , pp. 913-918
    • Holmberg, M.1    Duyckaerts, C.2    Durr, A.3
  • 26
    • 0033679283 scopus 로고    scopus 로고
    • Polyglutamine expansions: Proteolysis, chaperones, and the dangers of promiscuity
    • Ferrigno P, Silver PA. Polyglutamine expansions: proteolysis, chaperones, and the dangers of promiscuity. Neuron. 2000;26:9-12.
    • (2000) Neuron , vol.26 , pp. 9-12
    • Ferrigno, P.1    Silver, P.A.2
  • 27
    • 0032475877 scopus 로고    scopus 로고
    • Nuclear inclusions in glutamine repeat disorders: Are they pernicious, coincidental, or beneficial?
    • Sisodia SS. Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial? Cell. 1998;95:1-4.
    • (1998) Cell , vol.95 , pp. 1-4
    • Sisodia, S.S.1
  • 28
    • 0031056478 scopus 로고    scopus 로고
    • HIP-I: A huntingtin interacting protein isolated by the yeast two-hybrid system
    • Wanker EE, Rovira C, Scherzinger E, et al. HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system. Hum Mol Genet. 1997;6:487-495.
    • (1997) Hum Mol Genet , vol.6 , pp. 487-495
    • Wanker, E.E.1    Rovira, C.2    Scherzinger, E.3
  • 29
    • 0028283985 scopus 로고
    • Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases
    • Perutz MF, Johnson T, Suzuki M, Finch JT. Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc Natl Acad Sci U S A. 1994;91:5355-5358.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 5355-5358
    • Perutz, M.F.1    Johnson, T.2    Suzuki, M.3    Finch, J.T.4
  • 30
    • 23444458415 scopus 로고
    • Transcriptional activation modulated by homopolymeric glutamine and proline stretches
    • Gerber HP, Seipel K, Georgiev O, et al. Transcriptional activation modulated by homopolymeric glutamine and proline stretches. Science. 1994;263:808-811.
    • (1994) Science , vol.263 , pp. 808-811
    • Gerber, H.P.1    Seipel, K.2    Georgiev, O.3
  • 31
    • 0031714729 scopus 로고    scopus 로고
    • Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
    • Benton CS, de Silva R, Rutledge SL, Bohlega S, Ashizawa T, Zoghbi HY. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology. 1998;51:1081-1086.
    • (1998) Neurology , vol.51 , pp. 1081-1086
    • Benton, C.S.1    De Silva, R.2    Rutledge, S.L.3    Bohlega, S.4    Ashizawa, T.5    Zoghbi, H.Y.6
  • 32
    • 0030471959 scopus 로고    scopus 로고
    • Muscle morphology and mitochondrial investigations of a family with autosomal dominant cerebellar ataxia and retinal degeneration mapped to chromosome 3p12-p21.1
    • Forsgren L, Libelius R, Holmberg M, et al. Muscle morphology and mitochondrial investigations of a family with autosomal dominant cerebellar ataxia and retinal degeneration mapped to chromosome 3p12-p21.1. J Neurol Sci. 1996;144:91-98.
    • (1996) J Neurol Sci , vol.144 , pp. 91-98
    • Forsgren, L.1    Libelius, R.2    Holmberg, M.3
  • 33
    • 0032475941 scopus 로고    scopus 로고
    • Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
    • Klement IA, Skinner PJ, Kaytor MD, et al. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell. 1998;95:41-53.
    • (1998) Cell , vol.95 , pp. 41-53
    • Klement, I.A.1    Skinner, P.J.2    Kaytor, M.D.3
  • 34
    • 0032946228 scopus 로고    scopus 로고
    • In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease
    • Hackam AS, Singaraja R, Zhang T, Gan L, Hayden MR. In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease. Hum Mol Genet. 1999;8:25-33.
    • (1999) Hum Mol Genet , vol.8 , pp. 25-33
    • Hackam, A.S.1    Singaraja, R.2    Zhang, T.3    Gan, L.4    Hayden, M.R.5
  • 35
    • 17944370599 scopus 로고    scopus 로고
    • SCA7 transgenic mice show a cone-rod dystrophy type of retinal degeneration and a neurological phenotype
    • La Spada AR, Fu YH, Sopher BL, et al. SCA7 transgenic mice show a cone-rod dystrophy type of retinal degeneration and a neurological phenotype. Neuron. 2001;31:913-927.
    • (2001) Neuron , vol.31 , pp. 913-927
    • La Spada, A.R.1    Fu, Y.H.2    Sopher, B.L.3
  • 36
    • 0034641891 scopus 로고    scopus 로고
    • Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice
    • Yvert G, Lindenberg KS, Picaud S, Landwehrmeyer GB, Sahel JA, Mandel JL. Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. Hum Mol Genet. 2000;9:2491-2506.
    • (2000) Hum Mol Genet , vol.9 , pp. 2491-2506
    • Yvert, G.1    Lindenberg, K.S.2    Picaud, S.3    Landwehrmeyer, G.B.4    Sahel, J.A.5    Mandel, J.L.6
  • 37
    • 0032733624 scopus 로고    scopus 로고
    • Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration
    • Michalik A, Del-Favero J, Mauger C, Lofgren A, Van Broeckhoven C. Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration. Hum Genet. 1999;105:410-417.
    • (1999) Hum Genet , vol.105 , pp. 410-417
    • Michalik, A.1    Del-Favero, J.2    Mauger, C.3    Lofgren, A.4    Van Broeckhoven, C.5
  • 38
    • 6844239536 scopus 로고    scopus 로고
    • Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion
    • Del-Favero J, Krols L, Michalik A, et al. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum Mol Genet. 1998;7:177-186.
    • (1998) Hum Mol Genet , vol.7 , pp. 177-186
    • Del-Favero, J.1    Krols, L.2    Michalik, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.