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Volumn , Issue , 2010, Pages 123-136

Animal models for FXTAS

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EID: 84919847156     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4419-5805-1_8     Document Type: Chapter
Times cited : (1)

References (53)
  • 1
    • 2542507386 scopus 로고    scopus 로고
    • A study of the distributional characteristics of FMR1 transcript levels in 238 individuals
    • Allen, E. G. et al. 2004. A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum Genet 114:439-447.
    • (2004) Hum Genet , vol.114 , pp. 439-447
    • Allen, E.G.1
  • 2
    • 32244440359 scopus 로고    scopus 로고
    • Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: Newly described fronto-subcortical dementia
    • Bacalman, S. et al. 2006. Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry 67:87.94.
    • (2006) J Clin Psychiatry , vol.67 , pp. 8794
    • Bacalman, S.1
  • 3
    • 33747166728 scopus 로고    scopus 로고
    • The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair
    • Bergink, S. et al. 2006. The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair. Neurobiol Dis 23:708.716.
    • (2006) Neurobiol Dis , vol.23 , pp. 708716
    • Bergink, S.1
  • 4
    • 29444455075 scopus 로고    scopus 로고
    • Drosophila as a model for human neurodegenerative disease
    • Bilen, J., Bonini, N. M. 2005. Drosophila as a model for human neurodegenerative disease. Annu Rev Genet 39:153.171.
    • (2005) Annu Rev Genet , vol.39 , pp. 153171
    • Bilen, J.1    Bonini, N.M.2
  • 5
    • 0030733023 scopus 로고    scopus 로고
    • FMR1 premutation allele is stable in mice
    • Bontekoe, C. J. M. et al. 1997. FMR1 premutation allele is stable in mice. Eur J Hum Genet 5:293.298.
    • (1997) Eur J Hum Genet , vol.5 , pp. 293298
    • Bontekoe, C.J.M.1
  • 6
    • 0035423079 scopus 로고    scopus 로고
    • Instability of a (CGG) (98) repeat in the Fmr1 promoter
    • Bontekoe, C. J. et al. 2001. Instability of a (CGG) (98) repeat in the Fmr1 promoter. Hum Mol Genet 10:1693.1699.
    • (2001) Hum Mol Genet , vol.10 , pp. 16931699
    • Bontekoe, C.J.1
  • 7
    • 34250750659 scopus 로고    scopus 로고
    • Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome
    • Bourgeois, J. A. et al. 2007. Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. Gen Hosp Psychiatry 29:349.356.
    • (2007) Gen Hosp Psychiatry , vol.29 , pp. 349356
    • Bourgeois, J.A.1
  • 8
    • 33846002696 scopus 로고    scopus 로고
    • Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated fragile X full mutation
    • Brouwer, J. R. et al. 2007. Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated fragile X full mutation. Exp Cell Res 313:244.253.
    • (2007) Exp Cell Res , vol.313 , pp. 244253
    • Brouwer, J.R.1
  • 9
    • 46249101217 scopus 로고    scopus 로고
    • Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome
    • Brouwer, J. R. et al. 2008a. Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. Psychoneuroendocrinology 33:863.873.
    • (2008) Psychoneuroendocrinology , vol.33 , pp. 863873
    • Brouwer, J.R.1
  • 10
    • 56749165180 scopus 로고    scopus 로고
    • CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome
    • Brouwer, J. R. et al. 2008b. CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem 107:1671.1682.
    • (2008) J Neurochem , vol.107 , pp. 16711682
    • Brouwer, J.R.1
  • 11
    • 0036850456 scopus 로고    scopus 로고
    • Genetic modulation of polyglutamine toxicity by protein conjugation pathways in drosophila
    • Chan, H. Y. et al. 2002. Genetic modulation of polyglutamine toxicity by protein conjugation pathways in drosophila. Hum Mol Genet 11:2895.2904.
    • (2002) Hum Mol Genet , vol.11 , pp. 28952904
    • Chan, H.Y.1
  • 12
    • 77649301567 scopus 로고    scopus 로고
    • Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration
    • Jan 1
    • Chen, Y., Tassone, F., Berman, R. F., Hagerman, P. J., Hagerman, R. J., Willemsen, R., Pessah, I. N. 2010 Jan 1. Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet 19(1):196.208.
    • (2010) Hum Mol Genet , vol.19 , Issue.1 , pp. 196208
    • Chen, Y.1    Tassone, F.2    Berman, R.F.3    Hagerman, P.J.4    Hagerman, R.J.5    Willemsen, R.6    Pessah, I.N.7
  • 13
    • 44249106115 scopus 로고    scopus 로고
    • Age-dependent cognitive changes in carriers of the fragile X syndrome
    • Cornish, K. M. et al. 2008. Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex 44:628.636.
    • (2008) Cortex , vol.44 , pp. 628636
    • Cornish, K.M.1
  • 14
    • 0035394668 scopus 로고    scopus 로고
    • Over-expression of inducible Hsp70 chaperone suppresses neuropathology and improves motor function in SCA1 mice
    • Cummings, C. J. et al. 2001. Over-expression of inducible Hsp70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum Mol Genet 10:1511.1518.
    • (2001) Hum Mol Genet , vol.10 , pp. 15111518
    • Cummings, C.J.1
  • 15
    • 34447559636 scopus 로고    scopus 로고
    • Interfering with disease: A progress report on siRNA-based therapeutics
    • De Fougerolles, A. et al. 2007. Interfering with disease: a progress report on siRNA-based therapeutics. Nat Rev Drug Discov 6:443.453.
    • (2007) Nat Rev Drug Discov , vol.6 , pp. 443453
    • De Fougerolles, A.1
  • 16
    • 34247637636 scopus 로고    scopus 로고
    • Regional FMRP deficits and large repeat expansions into the full mutation range in a new fragile X premutation mouse model
    • Entezam, A. et al. 2007. Regional FMRP deficits and large repeat expansions into the full mutation range in a new fragile X premutation mouse model. Gene 395:125.134.
    • (2007) Gene , vol.395 , pp. 125134
    • Entezam, A.1
  • 17
    • 39549086548 scopus 로고    scopus 로고
    • ATR protects the genome against CGG. CGG-repeat expansion in fragile X premutation mice
    • Entezam, A., Usdin, K. 2007. ATR protects the genome against CGG. CGG-repeat expansion in fragile X premutation mice. Nucleic Acids Res 36:1050.1056.
    • (2007) Nucleic Acids Res , vol.36 , pp. 10501056
    • Entezam, A.1    Usdin, K.2
  • 18
    • 0034597833 scopus 로고    scopus 로고
    • Identification of genes that modify ataxin-1-induced neurodegeneration
    • Fernandez-Funez, P. et al. 2000. Identification of genes that modify ataxin-1-induced neurodegeneration. Nature 408:101.106.
    • (2000) Nature , vol.408 , pp. 101106
    • Fernandez-Funez, P.1
  • 19
    • 0036345801 scopus 로고    scopus 로고
    • Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
    • Greco, C. M. et al. 2002. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125:1760.1771.
    • (2002) Brain , vol.125 , pp. 17601771
    • Greco, C.M.1
  • 20
    • 30344473617 scopus 로고    scopus 로고
    • Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
    • Greco, C. M. et al. 2006. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 129:243.255.
    • (2006) Brain , vol.129 , pp. 243255
    • Greco, C.M.1
  • 21
    • 33947268037 scopus 로고    scopus 로고
    • Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome
    • Greco, C. M. et al. 2007. Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. J Urol 177:1434.1437.
    • (2007) J Urol , vol.177 , pp. 14341437
    • Greco, C.M.1
  • 22
    • 39049106972 scopus 로고    scopus 로고
    • Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome
    • Grigsby, J. et al. 2008. Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology 22:48.60.
    • (2008) Neuropsychology , vol.22 , pp. 4860
    • Grigsby, J.1
  • 23
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
    • Hagerman, R. J. et al. 2001. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127.130.
    • (2001) Neurology , vol.57 , pp. 127130
    • Hagerman, R.J.1
  • 25
    • 0344442391 scopus 로고    scopus 로고
    • The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by dicer
    • Handa, V. et al. 2003. The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by dicer. Nucleic Acids Res 31:6243.6248.
    • (2003) Nucleic Acids Res , vol.31 , pp. 62436248
    • Handa, V.1
  • 26
    • 27644483475 scopus 로고    scopus 로고
    • Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
    • Hessl, D. et al. 2005. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet 139B:115-121.
    • (2005) Am J Med Genet B Neuropsychiatr Genet , vol.139 B , pp. 115-121
    • Hessl, D.1
  • 27
    • 33846648486 scopus 로고    scopus 로고
    • Amygdala dysfunction in men with the fragile X premutation
    • Hessl, D. et al. 2006. Amygdala dysfunction in men with the fragile X premutation. Brain 130(2):404-416.
    • (2006) Brain , vol.130 , Issue.2 , pp. 404-416
    • Hessl, D.1
  • 28
    • 52549133808 scopus 로고    scopus 로고
    • Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers
    • Hunter, J. E. et al. 2008. Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers. Behav Genet 38(5):493-502.
    • (2008) Behav Genet , vol.38 , Issue.5 , pp. 493-502
    • Hunter, J.E.1
  • 29
    • 30344441794 scopus 로고    scopus 로고
    • Protein composition of the intranuclear inclusions of FXTAS
    • Iwahashi, C. et al. 2006. Protein composition of the intranuclear inclusions of FXTAS. Brain 129:256-271.
    • (2006) Brain , vol.129 , pp. 256-271
    • Iwahashi, C.1
  • 30
    • 0034695575 scopus 로고    scopus 로고
    • DNA polymerase III proofreading mutants enhance the expansion and deletion of triplet repeat sequences in Escherichia coli
    • Iyer, R. R. et al. 2000. DNA polymerase III proofreading mutants enhance the expansion and deletion of triplet repeat sequences in Escherichia coli. J Biol Chem 275:2174-2184.
    • (2000) J Biol Chem , vol.275 , pp. 2174-2184
    • Iyer, R.R.1
  • 31
    • 12144289389 scopus 로고    scopus 로고
    • Aging in individuals with the FMR1 mutation
    • Jacquemont, S. et al. 2004. Aging in individuals with the FMR1 mutation. Am J Ment Retard 109:154-164.
    • (2004) Am J Ment Retard , vol.109 , pp. 154-164
    • Jacquemont, S.1
  • 32
    • 0033551777 scopus 로고    scopus 로고
    • Genetic instabilities in (CTG. CAG) repeats occur by recombination
    • Jakupciak, J. P., Wells, R. D. 1999. Genetic instabilities in (CTG. CAG) repeats occur by recombination. J Biol Chem 274:23468-23479.
    • (1999) J Biol Chem , vol.274 , pp. 23468-23479
    • Jakupciak, J.P.1    Wells, R.D.2
  • 33
    • 0041880131 scopus 로고    scopus 로고
    • RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in drosophila
    • Jin, P. et al. 2003. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in drosophila. Neuron 39:739-747.
    • (2003) Neuron , vol.39 , pp. 739-747
    • Jin, P.1
  • 34
    • 34547681603 scopus 로고    scopus 로고
    • Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a drosophila model of fragile X tremor/ataxia syndrome
    • Jin, P. et al. 2007. Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a drosophila model of fragile X tremor/ataxia syndrome. Neuron 55:556-564.
    • (2007) Neuron , vol.55 , pp. 556-564
    • Jin, P.1
  • 35
    • 0037333288 scopus 로고    scopus 로고
    • New insights into fragile X syndrome: From molecules to neurobehaviors
    • Jin, P., Warren, S. T. 2003. New insights into fragile X syndrome: from molecules to neurobehaviors. Trends Biochem Sci 28:152-158.
    • (2003) Trends Biochem Sci , vol.28 , pp. 152-158
    • Jin, P.1    Warren, S.T.2
  • 36
    • 0034629073 scopus 로고    scopus 로고
    • Genetic suppression of polyglutamine toxicity in drosophila
    • Kazemi-Esfarjani, P., Benzer, S. 2000. Genetic suppression of polyglutamine toxicity in drosophila. Science 287:1837-1840.
    • (2000) Science , vol.287 , pp. 1837-1840
    • Kazemi-Esfarjani, P.1    Benzer, S.2
  • 37
    • 0035394437 scopus 로고    scopus 로고
    • Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
    • Kenneson, A. et al. 2001. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 10:1449-1454.
    • (2001) Hum Mol Genet , vol.10 , pp. 1449-1454
    • Kenneson, A.1
  • 38
    • 0141557777 scopus 로고    scopus 로고
    • Pur alpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse
    • Khalili, K. et al. 2003. Pur alpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse. Mol Cell Biol 23:6857-6875.
    • (2003) Mol Cell Biol , vol.23 , pp. 6857-6875
    • Khalili, K.1
  • 39
    • 33847077134 scopus 로고    scopus 로고
    • Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets
    • Krol, J. et al. 2007. Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets. Mol Cell 25:575-586.
    • (2007) Mol Cell , vol.25 , pp. 575-586
    • Krol, J.1
  • 40
    • 36248967098 scopus 로고    scopus 로고
    • An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals
    • Ladd, P. D. et al. 2007. An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet 16:3174-3187.
    • (2007) Hum Mol Genet , vol.16 , pp. 3174-3187
    • Ladd, P.D.1
  • 41
    • 0030931869 scopus 로고    scopus 로고
    • Trinucleotide repeats (CGG) 22TGG (CGG) 43TGG (CGG) 21 from the fragile X gene remain stable in transgenic mice
    • Lavedan, C. N. et al. 1997. Trinucleotide repeats (CGG) 22TGG (CGG) 43TGG (CGG) 21 from the fragile X gene remain stable in transgenic mice. Hum Genet 100:407-414.
    • (1997) Hum Genet , vol.100 , pp. 407-414
    • Lavedan, C.N.1
  • 42
    • 0032104278 scopus 로고    scopus 로고
    • Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice
    • Lavedan, C. et al. 1998. Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice. Genomics 50:229-240.
    • (1998) Genomics , vol.50 , pp. 229-240
    • Lavedan, C.1
  • 43
    • 46249116571 scopus 로고    scopus 로고
    • Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: A clinical-pathological study
    • Louis, E. et al. 2006. Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study. Mov Disord 27:193-201.
    • (2006) Mov Disord , vol.27 , pp. 193-201
    • Louis, E.1
  • 44
    • 0036417439 scopus 로고    scopus 로고
    • Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice
    • Peier, A., Nelson, D. 2002. Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice. Genomics 80:423-432.
    • (2002) Genomics , vol.80 , pp. 423-432
    • Peier, A.1    Nelson, D.2
  • 45
    • 0036918690 scopus 로고    scopus 로고
    • Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
    • Primerano, B. et al. 2002. Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA 8:1-7.
    • (2002) RNA , vol.8 , pp. 1-7
    • Primerano, B.1
  • 46
    • 34548724996 scopus 로고    scopus 로고
    • Argonaute-2 dependent rescue of a drosophila model of FXTAS by FRAXE premutation repeat
    • Sofola, O. A. et al. 2007a. Argonaute-2 dependent rescue of a drosophila model of FXTAS by FRAXE premutation repeat. Hum Mol Genet 16:2326-2332.
    • (2007) Hum Mol Genet , vol.16 , pp. 2326-2332
    • Sofola, O.A.1
  • 47
    • 34547697173 scopus 로고    scopus 로고
    • RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a drosophila model of FXTAS
    • Sofola, O. A. et al. 2007b. RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a drosophila model of FXTAS. Neuron 55:565-571.
    • (2007) Neuron , vol.55 , pp. 565-571
    • Sofola, O.A.1
  • 48
    • 0033940157 scopus 로고    scopus 로고
    • Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the Fragile-X syndrome
    • Tassone, F. et al. 2000. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the Fragile-X syndrome. Am J Hum Genet 66:6-15.
    • (2000) Am J Hum Genet , vol.66 , pp. 6-15
    • Tassone, F.1
  • 49
    • 2342578152 scopus 로고    scopus 로고
    • Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome
    • Tassone, F. et al. 2004. Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet 41:E43.
    • (2004) J Med Genet , vol.41 , pp. E43
    • Tassone, F.1
  • 50
    • 20444447397 scopus 로고    scopus 로고
    • Cognitive decline, neuromotor and behavioural disturbances in a mouse model for Fragile-X-associated tremor/ataxia syndrome (FXTAS)
    • Van Dam, D. et al. 2005. Cognitive decline, neuromotor and behavioural disturbances in a mouse model for Fragile-X-associated tremor/ataxia syndrome (FXTAS). Behav Brain Res 162:233-239.
    • (2005) Behav Brain Res , vol.162 , pp. 233-239
    • Van Dam, D.1
  • 51
    • 18544392423 scopus 로고    scopus 로고
    • Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in drosophila
    • Warrick, J. M. et al. 1998. Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in drosophila. Cell 93:939-949.
    • (1998) Cell , vol.93 , pp. 939-949
    • Warrick, J.M.1
  • 52
    • 0032771002 scopus 로고    scopus 로고
    • Stability of the human fragile X (CGG) (n) triplet repeat array in saccharomyces cerevisiae deficient in aspects of DNA metabolism
    • White, P. J. et al. 1999. Stability of the human fragile X (CGG) (n) triplet repeat array in saccharomyces cerevisiae deficient in aspects of DNA metabolism. Mol Cell Biol 19:5675-5684.
    • (1999) Mol Cell Biol , vol.19 , pp. 5675-5684
    • White, P.J.1
  • 53
    • 0038025990 scopus 로고    scopus 로고
    • The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome
    • Willemsen, R. et al. 2003. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet 12:949-959.
    • (2003) Hum Mol Genet , vol.12 , pp. 949-959
    • Willemsen, R.1


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