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Volumn 56, Issue 3, 2004, Pages 448-452

Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 7; BRAIN PROTEIN; GLUTAMINE; POLYGLUTAMINE; UNCLASSIFIED DRUG;

EID: 4444292910     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20230     Document Type: Article
Times cited : (48)

References (20)
  • 1
    • 0842345576 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy
    • Michalik A, Martin JJ, Van Broeckhoven C. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet 2004;12:2-15.
    • (2004) Eur J Hum Genet , vol.12 , pp. 2-15
    • Michalik, A.1    Martin, J.J.2    Van Broeckhoven, C.3
  • 2
    • 0031963416 scopus 로고    scopus 로고
    • Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: Effect of CAG repeat length on the clinical manifestation
    • Johansson J, Forsgren L, Sandgren O, et al. Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum Mol Genet 1998;7:171-176.
    • (1998) Hum Mol Genet , vol.7 , pp. 171-176
    • Johansson, J.1    Forsgren, L.2    Sandgren, O.3
  • 3
    • 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, et al. 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
  • 4
    • 0034798064 scopus 로고    scopus 로고
    • Striking anticipation in spinocerebellar ataxia type 7: The infantile phenotype
    • van de Warrenburg BP, Frenken CW, Ausems MG, et al. Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype. J Neurol 2001;248:911-914.
    • (2001) J Neurol , vol.248 , pp. 911-914
    • Van De Warrenburg, B.P.1    Frenken, C.W.2    Ausems, M.G.3
  • 5
    • 18444386197 scopus 로고    scopus 로고
    • A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration
    • Watase K, Weeber EJ, Xu B, et al. A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron 2002;34:905-919.
    • (2002) Neuron , vol.34 , pp. 905-919
    • Watase, K.1    Weeber, E.J.2    Xu, B.3
  • 6
    • 0037421691 scopus 로고    scopus 로고
    • SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity
    • Yoo SY, Pennesi ME, Weeber EJ, et al. SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron 2003;37:383-401.
    • (2003) Neuron , vol.37 , pp. 383-401
    • Yoo, S.Y.1    Pennesi, M.E.2    Weeber, E.J.3
  • 7
    • 0004799163 scopus 로고    scopus 로고
    • Molecular and clinical study of 18 families with ADCA type II: Evidence for genetic heterogeneity and de novo mutation
    • Giunti P, Stevanin G, Worth PF, et al. Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. Am J Hum Genet 1999;64:1594-1603.
    • (1999) Am J Hum Genet , vol.64 , pp. 1594-1603
    • Giunti, P.1    Stevanin, G.2    Worth, P.F.3
  • 8
    • 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
  • 9
    • 0033392351 scopus 로고    scopus 로고
    • Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody
    • Mauger C, Del Favero J, Ceuterick C, et al. Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody. Brain Res Mol Brain Res 1999;74:35-43.
    • (1999) Brain Res Mol Brain Res , vol.74 , pp. 35-43
    • Mauger, C.1    Del Favero, J.2    Ceuterick, C.3
  • 10
    • 0036951266 scopus 로고    scopus 로고
    • Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals
    • Jonasson J, Strom AL, Hart P, et al. Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals. Acta Neuropathol (Berl) 2002;104:29-37.
    • (2002) Acta Neuropathol (Berl) , vol.104 , pp. 29-37
    • Jonasson, J.1    Strom, A.L.2    Hart, P.3
  • 11
    • 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
  • 12
    • 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
  • 13
    • 0141891215 scopus 로고    scopus 로고
    • Pathogenesis of polyglutamine disorders: Aggregation revisited
    • Michalik A, Van Broeckhoven C. Pathogenesis of polyglutamine disorders: aggregation revisited. Hum Mol Genet 2003;12(suppl 21:R173-R186.
    • (2003) Hum Mol Genet , vol.12 , Issue.SUPPL. 21
    • Michalik, A.1    Van Broeckhoven, C.2
  • 14
    • 0036798685 scopus 로고    scopus 로고
    • Intranuclear ataxinl inclusions contain both fast- and slow-exchanging components
    • Stenoien DL, Mielke M, Mancini MA. Intranuclear ataxinl inclusions contain both fast- and slow-exchanging components. Nat Cell Biol 2002;4:806-810.
    • (2002) Nat Cell Biol , vol.4 , pp. 806-810
    • Stenoien, D.L.1    Mielke, M.2    Mancini, M.A.3
  • 15
    • 18544392423 scopus 로고    scopus 로고
    • Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila
    • Warrick JM, Paulson HL, Gray Board GL, et al. Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila. Cell 1998;93:939-949.
    • (1998) Cell , vol.93 , pp. 939-949
    • Warrick, J.M.1    Paulson, H.L.2    Gray Board, G.L.3
  • 16
    • 0035947372 scopus 로고    scopus 로고
    • Impairment of the ubiquitin-proteasome system by protein aggregation
    • Bence NF, Sampat RM, Kopito RR. Impairment of the ubiquitin-proteasome system by protein aggregation. Science 2001;292:1552-1555.
    • (2001) Science , vol.292 , pp. 1552-1555
    • Bence, N.F.1    Sampat, R.M.2    Kopito, R.R.3
  • 17
    • 0033119123 scopus 로고    scopus 로고
    • Nuclear and neuropil aggregares in Huntington's disease: Relationship to neuroparhology
    • Gutekunst CA, Li SH, Yi H, et al. Nuclear and neuropil aggregares in Huntington's disease: relationship to neuroparhology. J Neurosci 1999;19:2522-2534.
    • (1999) J Neurosci , vol.19 , pp. 2522-2534
    • Gutekunst, C.A.1    Li, S.H.2    Yi, H.3
  • 18
    • 0035869544 scopus 로고    scopus 로고
    • Tissue-specific proteolysis of Huntingtin (htt) in human brain: Evidence of enhanced levels of N- and C-terminal htt fragments in Huntington's disease striatum
    • Mende-Mueller LM, Toneff T, Hwang SR, et al. Tissue-specific proteolysis of Huntingtin (htt) in human brain: evidence of enhanced levels of N- and C-terminal htt fragments in Huntington's disease striatum. J Neurosci 2001;21:1830-1837.
    • (2001) J Neurosci , vol.21 , pp. 1830-1837
    • Mende-Mueller, L.M.1    Toneff, T.2    Hwang, S.R.3
  • 19
    • 0034951251 scopus 로고    scopus 로고
    • Damage control - A possible non-proteolytic role for ubiquitin in limiting neurodegeneration
    • Gray DA. Damage control - a possible non-proteolytic role for ubiquitin in limiting neurodegeneration. Neuropathol Appl Neurobiol 2001;27:89-94.
    • (2001) Neuropathol Appl Neurobiol , vol.27 , pp. 89-94
    • Gray, D.A.1
  • 20
    • 0035293622 scopus 로고    scopus 로고
    • Protein regulation by monoubiquitin
    • Hicke L. Protein regulation by monoubiquitin. Nat Rev Mol Cell Biol 2001;2:195-201.
    • (2001) Nat Rev Mol Cell Biol , vol.2 , pp. 195-201
    • Hicke, L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.