메뉴 건너뛰기




Volumn 32, Issue 2, 2006, Pages 147-158

Mouse models of triplet repeat diseases

Author keywords

Fragile X syndrome; Friedreich's ataxia; Mouse models; Myotonic dystrophy; Polyglutamine disease; Triplet repeat expansion

Indexed keywords

COGNITIVE SYSTEMS; DISEASES; MOLECULAR BIOLOGY; NEUROLOGY;

EID: 31644449783     PISSN: 10736085     EISSN: None     Source Type: Journal    
DOI: 10.1385/MB:32:2:147     Document Type: Review
Times cited : (21)

References (136)
  • 1
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk, A. J., Pieretti, M., Sutcliffe, J. S., et al. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 2
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada, A. R., Wilson, E. M., Lubahn, D. B., Harding, A. E., and Fischbeck, K. H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 3
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano, V., Montermini, L., Molto, M. D., et al. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423-1427.
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3
  • 4
    • 0034329159 scopus 로고    scopus 로고
    • Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
    • Gusella, J. F. and MacDonald, M. E. (2000) Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nat. Rev. Neurosci. 1, 109-115.
    • (2000) Nat. Rev. Neurosci. , vol.1 , pp. 109-115
    • Gusella, J.F.1    MacDonald, M.E.2
  • 6
    • 0032900772 scopus 로고    scopus 로고
    • An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
    • Koob, M. D., Moseley, M. L., Schut, L. J., et al. (1999) An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat. Genet. 21, 379-384.
    • (1999) Nat. Genet. , vol.21 , pp. 379-384
    • Koob, M.D.1    Moseley, M.L.2    Schut, L.J.3
  • 7
    • 0036301947 scopus 로고    scopus 로고
    • A decade of molecular studies of fragile X syndrome
    • O'Donnell, W. T. and Warren, S. T. (2002) A decade of molecular studies of fragile X syndrome. Annu. Rev. Neurosci. 25, 315-338.
    • (2002) Annu. Rev. Neurosci. , vol.25 , pp. 315-338
    • O'Donnell, W.T.1    Warren, S.T.2
  • 8
    • 0037333288 scopus 로고    scopus 로고
    • New insights into fragile X syndrome: From molecules to neurobehaviors
    • Jin, P. and 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
  • 9
    • 0028246435 scopus 로고
    • Fmr1 knockout mice: A model to study fragile X mental retardation
    • The Dutch-Belgian Fragile X Consortium (1994) Fmr1 knockout mice: a model to study fragile X mental retardation. Cell 78, 23-33.
    • (1994) Cell , vol.78 , pp. 23-33
  • 10
    • 0037372019 scopus 로고    scopus 로고
    • Of mice and the fragile X syndrome
    • Frank Kooy, R. (2003) Of mice and the fragile X syndrome. Trends Genet. 19, 148-154.
    • (2003) Trends Genet. , vol.19 , pp. 148-154
    • Frank Kooy, R.1
  • 11
    • 2042473496 scopus 로고    scopus 로고
    • Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice
    • Frankland, P. W., Wang, Y., Rosner, B., et al. (2004) Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice. Mol. Psychiatry 9, 417-425.
    • (2004) Mol. Psychiatry , vol.9 , pp. 417-425
    • Frankland, P.W.1    Wang, Y.2    Rosner, B.3
  • 12
    • 85011452600 scopus 로고    scopus 로고
    • Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development
    • Slegtenhorst-Eegdeman, K.E., de Rooij, D.G., Verhoef-Post, M., et al. (1998) Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development. Endocrinology 139, 156-162.
    • (1998) Endocrinology , vol.139 , pp. 156-162
    • Slegtenhorst-1    Eegdeman, K.E.2    De Rooij, D.G.3    Verhoef-Post, M.4
  • 13
    • 0030986183 scopus 로고    scopus 로고
    • Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
    • Comery, T. A., Harris, J. B., Willems, P. J., et al. (1997) Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proc. Natl. Acad. Sci. USA 94, 5401-5404.
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 5401-5404
    • Comery, T.A.1    Harris, J.B.2    Willems, P.J.3
  • 14
    • 0037158482 scopus 로고    scopus 로고
    • Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice
    • Irwin, S. A., Idupulapati, M., Gilbert, M. E., et al. (2002) Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice. Am. J. Med. Genet. 111, 140-146.
    • (2002) Am. J. Med. Genet. , vol.111 , pp. 140-146
    • Irwin, S.A.1    Idupulapati, M.2    Gilbert, M.E.3
  • 15
    • 0347155731 scopus 로고    scopus 로고
    • Somatosensory cortical barrel dendritic abnormalities in a mouse model of the fragile X mental retardation syndrome
    • Galvez, R., Gopal, A. R. and Greenough, W. T. (2003) Somatosensory cortical barrel dendritic abnormalities in a mouse model of the fragile X mental retardation syndrome. Brain Res. 971, 83-89.
    • (2003) Brain Res. , vol.971 , pp. 83-89
    • Galvez, R.1    Gopal, A.R.2    Greenough, W.T.3
  • 16
    • 0035804765 scopus 로고    scopus 로고
    • Fragile X mice develop sensory hyperreactivity to auditory stimuli
    • Chen, L. and Toth, M. (2001) Fragile X mice develop sensory hyperreactivity to auditory stimuli. Neuroscience 103, 1043-1050.
    • (2001) Neuroscience , vol.103 , pp. 1043-1050
    • Chen, L.1    Toth, M.2
  • 17
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
    • Hagerman, R. J., Leehey, M., Heinrichs, W., 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. 127-130
    • Hagerman, R.J.1    Leehey, M.2    Heinrichs, W.3
  • 19
    • 0037384643 scopus 로고    scopus 로고
    • Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
    • Jacquemont, S., Hagerman, R. J., Leehey, M., et al. (2003) Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am. J. Hum. Genet. 72, 869-878.
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 869-878
    • Jacquemont, S.1    Hagerman, R.J.2    Leehey, M.3
  • 20
    • 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., Hagerman, R. J., Taylor, A. K., Gane, L. W., Godfrey, T. E., and Hagerman, P. J. (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    Hagerman, R.J.2    Taylor, A.K.3    Gane, L.W.4    Godfrey, T.E.5    Hagerman, P.J.6
  • 21
    • 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., Zhang, F., Hagedorn, C. H., and Warren, S. T. (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    Zhang, F.2    Hagedorn, C.H.3    Warren, S.T.4
  • 22
    • 0036345801 scopus 로고    scopus 로고
    • Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
    • Greco, C. M., Hagerman, R. J., Tassone, F., 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. 1760-1771
    • Greco, C.M.1    Hagerman, R.J.2    Tassone, F.3
  • 23
    • 0035423079 scopus 로고    scopus 로고
    • Instability of a (CGG)98 repeat in the Fmr1 promoter
    • Bontekoe, C. J., Bakker, C. E., Nieuwenhuizen, I. M., 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. 1693-1699
    • Bontekoe, C.J.1    Bakker, C.E.2    Nieuwenhuizen, I.M.3
  • 24
    • 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., Hoogeveen-Westerveld, M., Reis, S., 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    Hoogeveen-Westerveld, M.2    Reis, S.3
  • 25
    • 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., Errijgers, V., Kooy, R. F., 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    Errijgers, V.2    Kooy, R.F.3
  • 26
    • 0034969491 scopus 로고    scopus 로고
    • Friedreich ataxia: From GAA triplet-repeat expansion to frataxin deficiency
    • Patel, P. I. and Isaya, G. (2001) Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency. Am. J. Hum. Genet. 69, 15-24.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 15-24
    • Patel, P.I.1    Isaya, G.2
  • 27
    • 0036603021 scopus 로고    scopus 로고
    • Friedreich ataxia: A paradigm for mitochondrial diseases
    • Puccio, H. and Koenig, M. (2002) Friedreich ataxia: a paradigm for mitochondrial diseases. Curr. Opin. Genet. Dev. 12, 272-277.
    • (2002) Curr. Opin. Genet. Dev. , vol.12 , pp. 272-277
    • Puccio, H.1    Koenig, M.2
  • 28
    • 0034192352 scopus 로고    scopus 로고
    • Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
    • Cossee, M., Puccio, H., Gansmuller, A., et al. (2000) Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum. Mol. Genet. 9, 1219-1226.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1219-1226
    • Cossee, M.1    Puccio, H.2    Gansmuller, A.3
  • 29
    • 0035138072 scopus 로고    scopus 로고
    • Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
    • Puccio, H., Simon, D., Cossee, M., et al. (2001) Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat. Genet. 27, 181-186.
    • (2001) Nat. Genet. , vol.27 , pp. 181-186
    • Puccio, H.1    Simon, D.2    Cossee, M.3
  • 30
    • 1442324707 scopus 로고    scopus 로고
    • Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia
    • Simon, D., Seznec, H., Gansmuller, A., et al. (2004) Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia. J. Neurosci. 24, 1987-1995.
    • (2004) J. Neurosci. , vol.24 , pp. 1987-1995
    • Simon, D.1    Seznec, H.2    Gansmuller, A.3
  • 32
    • 0035491260 scopus 로고    scopus 로고
    • Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis
    • Pook, M. A., Al-Mahdawi, S., Carroll, C. J., et al. (2001) Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis. Neurogenetics 3, 185-193.
    • (2001) Neurogenetics , vol.3 , pp. 185-193
    • Pook, M.A.1    Al-Mahdawi, S.2    Carroll, C.J.3
  • 33
    • 2342505155 scopus 로고    scopus 로고
    • Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice
    • Sarsero, J. P., Li, L., Holloway, T. P., et al. (2004) Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice. Mamm. Genome 15, 370-382.
    • (2004) Mamm. Genome , vol.15 , pp. 370-382
    • Sarsero, J.P.1    Li, L.2    Holloway, T.P.3
  • 35
    • 0033782822 scopus 로고    scopus 로고
    • Myotonic dystrophies
    • Meola, G. (2000) Myotonic dystrophies. Curr. Opin. Neurol. 13, 519-525.
    • (2000) Curr. Opin. Neurol. , vol.13 , pp. 519-525
    • Meola, G.1
  • 36
    • 0036591663 scopus 로고    scopus 로고
    • Dominantly inherited, non-coding microsatellite expansion disorders
    • Ranum, L. P. and Day, J. W. (2002) Dominantly inherited, non-coding microsatellite expansion disorders. Curr. Opin. Genet. Dev. 12, 266-271.
    • (2002) Curr. Opin. Genet. Dev. , vol.12 , pp. 266-271
    • Ranum, L.P.1    Day, J.W.2
  • 37
    • 8944259903 scopus 로고    scopus 로고
    • Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
    • Reddy, S., Smith, D. B., Rich, M. M., et al. (1996) Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat. Genet. 13, 325-335.
    • (1996) Nat. Genet. , vol.13 , pp. 325-335
    • Reddy, S.1    Smith, D.B.2    Rich, M.M.3
  • 38
    • 8944235350 scopus 로고    scopus 로고
    • Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
    • Jansen, G., Groenen, P. J., Bachner, D., et al. (1996) Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat. Genet. 13, 316-324.
    • (1996) Nat. Genet. , vol.13 , pp. 316-324
    • Jansen, G.1    Groenen, P.J.2    Bachner, D.3
  • 39
    • 0034703395 scopus 로고    scopus 로고
    • Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase
    • Mounsey, J. P., Mistry, D. J., Ai, C. W., Reddy, S. and Moorman, J. R. (2000) Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase. Hum. Mol. Genet. 9, 2313-2320.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2313-2320
    • Mounsey, J.P.1    Mistry, D.J.2    Ai, C.W.3    Reddy, S.4    Moorman, J.R.5
  • 40
    • 0033557293 scopus 로고    scopus 로고
    • DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model
    • Berul, C. I., Maguire, C. T., Aronovitz, M. J., et al. (1999) DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J. Clin. Invest. 103, R1-R7.
    • (1999) J. Clin. Invest. , vol.103
    • Berul, C.I.1    Maguire, C.T.2    Aronovitz, M.J.3
  • 41
    • 0034103010 scopus 로고    scopus 로고
    • Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts
    • Sarkar, P. S., Appukuttan, B., Han, J., et al. (2000) Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat. Genet. 25, 110-114.
    • (2000) Nat. Genet. , vol.25 , pp. 110-114
    • Sarkar, P.S.1    Appukuttan, B.2    Han, J.3
  • 42
    • 0034019306 scopus 로고    scopus 로고
    • Mice deficient in Six5 develop cataracts: Implications for myotonic dystrophy
    • Klesert, T. R., Cho, D. H., Clark, J. I., et al. (2000) Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nat. Genet. 25, 105-109.
    • (2000) Nat. Genet. , vol.25 , pp. 105-109
    • Klesert, T.R.1    Cho, D.H.2    Clark, J.I.3
  • 43
    • 0036817811 scopus 로고    scopus 로고
    • Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene
    • Wakimoto, H., Maguire, C. T., Sherwood, M. C., et al. (2002) Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene. J. Interv. Card. Electrophysiol. 7, 127-135.
    • (2002) J. Interv. Card. Electrophysiol. , vol.7 , pp. 127-135
    • Wakimoto, H.1    Maguire, C.T.2    Sherwood, M.C.3
  • 44
    • 15344351660 scopus 로고    scopus 로고
    • Myotonia and muscle contractile properties in mice with SIX5 deficiency
    • Personius, K. E., Nautiyal, J., and Reddy, S. (2005) Myotonia and muscle contractile properties in mice with SIX5 deficiency. Muscle Nerve 31, 503-505.
    • (2005) Muscle Nerve , vol.31 , pp. 503-505
    • Personius, K.E.1    Nautiyal, J.2    Reddy, S.3
  • 45
    • 0035800434 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    • Liquori, C. L., Ricker, K., Moseley, M. L., et al. (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293, 864-867.
    • (2001) Science , vol.293 , pp. 864-867
    • Liquori, C.L.1    Ricker, K.2    Moseley, M.L.3
  • 46
    • 4444299702 scopus 로고    scopus 로고
    • Pathogenic RNA repeats: An expanding role in genetic disease
    • Ranum, L. P. and Day, J. W. (2004) Pathogenic RNA repeats: an expanding role in genetic disease. Trends Genet. 20, 506-512.
    • (2004) Trends Genet. , vol.20 , pp. 506-512
    • Ranum, L.P.1    Day, J.W.2
  • 47
    • 0034622926 scopus 로고    scopus 로고
    • Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
    • Mankodi, A., Logigian, E., Callahan, L., et al. (2000) Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289, 1769-1773.
    • (2000) Science , vol.289 , pp. 1769-1773
    • Mankodi, A.1    Logigian, E.2    Callahan, L.3
  • 48
    • 0036347525 scopus 로고    scopus 로고
    • Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyper-excitability of skeletal muscle in myotonic dystrophy
    • Mankodi, A., Takahashi, M. P., Jiang, H., et al. (2002) Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyper-excitability of skeletal muscle in myotonic dystrophy. Mol. Cell 10, 35-44.
    • (2002) Mol. Cell , vol.10 , pp. 35-44
    • Mankodi, A.1    Takahashi, M.P.2    Jiang, H.3
  • 49
    • 0035510133 scopus 로고    scopus 로고
    • Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities
    • Seznec, H., Agbulut, O., Sergeant, N., et al. (2001) Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum. Mol. Genet. 10, 2717-2726.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2717-2726
    • Seznec, H.1    Agbulut, O.2    Sergeant, N.3
  • 50
    • 12144288743 scopus 로고    scopus 로고
    • Inhibition of myogenesis in transgenic mice expressing the human DMPK 3′-UTR
    • Storbeck, C. J., Drmanic, S., Daniel, K., et al. (2004) Inhibition of myogenesis in transgenic mice expressing the human DMPK 3′-UTR. Hum. Mol. Genet. 13, 589-600.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 589-600
    • Storbeck, C.J.1    Drmanic, S.2    Daniel, K.3
  • 51
    • 0346243804 scopus 로고    scopus 로고
    • A muscleblind knockout model for myotonic dystrophy
    • Kanadia, R. N., Johnstone, K. A., Mankodi, A., et al. (2003) A muscleblind knockout model for myotonic dystrophy. Science 302, 1978-1980.
    • (2003) Science , vol.302 , pp. 1978-1980
    • Kanadia, R.N.1    Johnstone, K.A.2    Mankodi, A.3
  • 52
    • 20444452898 scopus 로고    scopus 로고
    • Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy
    • Ho, T. H., Bundman, D., Armstrong, D. L., and Cooper, T. A. (2005) Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum. Mol. Genet. 14, 1539-1547.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1539-1547
    • Ho, T.H.1    Bundman, D.2    Armstrong, D.L.3    Cooper, T.A.4
  • 53
    • 16044373842 scopus 로고    scopus 로고
    • Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
    • Mangiarini, L., Sathasivam, K., Seller, M., et al. (1996) Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87, 493-506.
    • (1996) Cell , vol.87 , pp. 493-506
    • Mangiarini, L.1    Sathasivam, K.2    Seller, M.3
  • 54
    • 0033054555 scopus 로고    scopus 로고
    • Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin
    • published erratum appears in Hum. Mol. Genet. 1999;8:943
    • Schilling, G., Becher, M. W., Sharp, A. H., et al. (1999) Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin [published erratum appears in Hum. Mol. Genet. 1999;8:943]. Hum. Mol. Genet. 8, 397-407.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 397-407
    • Schilling, G.1    Becher, M.W.2    Sharp, A.H.3
  • 55
    • 0035575858 scopus 로고    scopus 로고
    • Changes in cortical and striatal neurons predict behavioral and electrophysiological abnormalities in a transgenic murine model of Huntington's disease
    • Laforet, G. A., Sapp, E., Chase, K., et al. (2001) Changes in cortical and striatal neurons predict behavioral and electrophysiological abnormalities in a transgenic murine model of Huntington's disease. J. Neurosci. 21, 9112-9123.
    • (2001) J. Neurosci. , vol.21 , pp. 9112-9123
    • Laforet, G.A.1    Sapp, E.2    Chase, K.3
  • 56
    • 20944431926 scopus 로고    scopus 로고
    • Pathological cell-cell interactions elicited by a neuropathogenic form of mutant Huntingtin contribute to cortical pathogenesis in HD mice
    • Gu, X., Li, C., Wei, W., et al. (2005) Pathological cell-cell interactions elicited by a neuropathogenic form of mutant Huntingtin contribute to cortical pathogenesis in HD mice. Neuron 46, 433-444.
    • (2005) Neuron , vol.46 , pp. 433-444
    • Gu, X.1    Li, C.2    Wei, W.3
  • 57
    • 17344367977 scopus 로고    scopus 로고
    • Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA
    • Reddy, P. H., Williams, M., Charles, V., et al. (1998) Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA. Nat. Genet. 20, 198-202.
    • (1998) Nat. Genet. , vol.20 , pp. 198-202
    • Reddy, P.H.1    Williams, M.2    Charles, V.3
  • 58
    • 0033136692 scopus 로고    scopus 로고
    • A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration
    • Hodgson, J. G., Agopyan, N., Gutekunst, C. A., et al. (1999) A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron 23, 181-192.
    • (1999) Neuron , vol.23 , pp. 181-192
    • Hodgson, J.G.1    Agopyan, N.2    Gutekunst, C.A.3
  • 59
    • 10744227174 scopus 로고    scopus 로고
    • Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease
    • Slow, E. J., van Raamsdonk, J., Rogers, D., et al. (2003) Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease. Hum. Mol. Genet. 12, 1555-1567.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1555-1567
    • Slow, E.J.1    Van Raamsdonk, J.2    Rogers, D.3
  • 60
    • 0032949459 scopus 로고    scopus 로고
    • A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice
    • Shelbourne, P. F., Killeen, N., Hevner, R. F., et al. (1999) A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum. Mol. Genet. 8, 763-774.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 763-774
    • Shelbourne, P.F.1    Killeen, N.2    Hevner, R.F.3
  • 61
    • 0033571743 scopus 로고    scopus 로고
    • Enhanced sensitivity to N-methyl-D-aspartate receptor activation in transgenic and knockin mouse models of Huntington's disease
    • Levine, M. S., Klapstein, G. J., Koppel, A., et al. (1999) Enhanced sensitivity to N-methyl-D-aspartate receptor activation in transgenic and knockin mouse models of Huntington's disease. J. Neurosci. Res. 58, 515-532.
    • (1999) J. Neurosci. Res. , vol.58 , pp. 515-532
    • Levine, M.S.1    Klapstein, G.J.2    Koppel, A.3
  • 62
    • 0034163497 scopus 로고    scopus 로고
    • Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock- in mice
    • Wheeler, V. C., White, J. K., Gutekunst, C. A., et al. (2000) Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock- in mice. Hum. Mol. Genet. 9, 503-513.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 503-513
    • Wheeler, V.C.1    White, J.K.2    Gutekunst, C.A.3
  • 63
    • 0035862896 scopus 로고    scopus 로고
    • Neurological abnormalities in a knockin mouse model of Huntington's disease
    • Lin, C. H., Tallaksen-Greene, S., Chien, W. M., et al. (2001) Neurological abnormalities in a knockin mouse model of Huntington's disease. Hum. Mol. Genet. 10, 137-144.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 137-144
    • Lin, C.H.1    Tallaksen-Greene, S.2    Chien, W.M.3
  • 64
    • 0029163222 scopus 로고
    • SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
    • Burright, E. N., Clark, H. B., Servadio, A., et al. (1995) SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82, 937-948.
    • (1995) Cell , vol.82 , pp. 937-948
    • Burright, E.N.1    Clark, H.B.2    Servadio, A.3
  • 65
    • 0033811788 scopus 로고    scopus 로고
    • Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human
    • Huynh, D. P., Figueroa, K., Hoang, N., and Pulst, S. M. (2000) Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat. Genet. 26, 44-50.
    • (2000) Nat. Genet. , vol.26 , pp. 44-50
    • Huynh, D.P.1    Figueroa, K.2    Hoang, N.3    Pulst, S.M.4
  • 66
    • 0036566229 scopus 로고    scopus 로고
    • YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit
    • Cemal, C. K., Carroll, C. L, Lawrence, L., et al. (2002) YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit. Hum. Mol. Genet. 11, 1075-1094.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1075-1094
    • Cemal, C.K.1    Carroll, C.L.2    Lawrence, L.3
  • 67
    • 0034641891 scopus 로고    scopus 로고
    • Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice
    • Yvert, G., Lindenberg, K. S., Picaud, S., Landwehrmeyer, G. B., Sahel, J. A., and Mandel, J. L. (2000) Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. Hum. Mol. Genet. 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
  • 68
    • 0035421417 scopus 로고    scopus 로고
    • SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types
    • Yvert, G., Lindenberg, K. S., Devys, D., Helmlinger, D., Landwehrmeyer, G. B., and Mandel, J. L. (2001) SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types. Hum. Mol. Genet. 10, 1679-1692.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1679-1692
    • Yvert, G.1    Lindenberg, K.S.2    Devys, D.3    Helmlinger, D.4    Landwehrmeyer, G.B.5    Mandel, J.L.6
  • 69
    • 17944370599 scopus 로고    scopus 로고
    • Polyglutamine-expanded ataxin-7 antagonizes crx function and induces cone-rod dystrophy in a mouse model of sca7
    • La Spada, A. R., Fu, Y., Sopher, B. L., et al. (2001) Polyglutamine-expanded ataxin-7 antagonizes crx function and induces cone-rod dystrophy in a mouse model of sca7. Neuron 31, 913-927.
    • (2001) Neuron , vol.31 , pp. 913-927
    • La Spada, A.R.1    Fu, Y.2    Sopher, B.L.3
  • 70
    • 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, E. J., Xu, B., et al. (2002) A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron 34, 905-919.
    • (2002) Neuron , vol.34 , pp. 905-919
    • Watase, K.1    Weeber, E.J.2    Xu, B.3
  • 71
    • 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, S. Y., Pennesi, M. E., Weeber, E. J., et al. (2003) SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron 37, 383-401.
    • (2003) Neuron , vol.37 , pp. 383-401
    • Yoo, S.Y.1    Pennesi, M.E.2    Weeber, E.J.3
  • 72
    • 0009744392 scopus 로고    scopus 로고
    • Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA
    • Schilling, G., Wood, J. D., Duan, K., et al. (1999) Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA. Neuron 24, 275-286.
    • (1999) Neuron , vol.24 , pp. 275-286
    • Schilling, G.1    Wood, J.D.2    Duan, K.3
  • 73
    • 0032907359 scopus 로고    scopus 로고
    • Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients
    • Sato, T., Oyake, M., Nakamura, K., et al. (1999) Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients. Hum. Mol. Genet. 8, 99-106.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 99-106
    • Sato, T.1    Oyake, M.2    Nakamura, K.3
  • 74
    • 0035862754 scopus 로고    scopus 로고
    • Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice
    • Abel, A., Walcott, J., Woods, J., Duda, J., and Merry, D. E. (2001) Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice. Hum. Mol. Genet. 10, 107-116.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 107-116
    • Abel, A.1    Walcott, J.2    Woods, J.3    Duda, J.4    Merry, D.E.5
  • 75
    • 18344399938 scopus 로고    scopus 로고
    • Transgenic mice with an expanded CAG repeat controlled by the human AR promoter show polyglutamine nuclear inclusions and neuronal dysfunction without neuronal cell death
    • Adachi, H., Kume, A., Li, M., et al. (2001) Transgenic mice with an expanded CAG repeat controlled by the human AR promoter show polyglutamine nuclear inclusions and neuronal dysfunction without neuronal cell death. Hum. Mol. Genet. 10, 1039-1048.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1039-1048
    • Adachi, H.1    Kume, A.2    Li, M.3
  • 76
    • 18644379256 scopus 로고    scopus 로고
    • Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy
    • Katsuno, M., Adachi, H., Kume, A., et al. (2002) Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Neuron 35, 843-854.
    • (2002) Neuron , vol.35 , pp. 843-854
    • Katsuno, M.1    Adachi, H.2    Kume, A.3
  • 77
    • 0036713608 scopus 로고    scopus 로고
    • A mouse model of spinal and bulbar muscular atrophy
    • McManamny, P., Chy, H. S., Finkelstein, D. I., et al. (2002) A mouse model of spinal and bulbar muscular atrophy. Hum. Mol. Genet. 11, 2103-2111.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 2103-2111
    • McManamny, P.1    Chy, H.S.2    Finkelstein, D.I.3
  • 78
    • 12144286872 scopus 로고    scopus 로고
    • Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration
    • Sopher, B. L., Thomas, P. S., Jr., LaFevre-Bernt, M. A., et al. (2004) Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration. Neuron 41, 687-699.
    • (2004) Neuron , vol.41 , pp. 687-699
    • Sopher, B.L.1    Thomas Jr., P.S.2    LaFevre-Bernt, M.A.3
  • 79
    • 18544410106 scopus 로고    scopus 로고
    • Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
    • Davies, S. W., Turmaine, M., Cozens, B. A., et al. (1997) Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90, 537-548.
    • (1997) Cell , vol.90 , pp. 537-548
    • Davies, S.W.1    Turmaine, M.2    Cozens, B.A.3
  • 80
    • 0032811511 scopus 로고    scopus 로고
    • Ultrastructural localization and progressive formation of neuropil aggregates in Huntington's disease transgenic mice
    • Li, H., Li, S. H., Cheng, A. L., Mangiarini, L., Bates, G. P., and Li, X. J. (1999) Ultrastructural localization and progressive formation of neuropil aggregates in Huntington's disease transgenic mice. Hum. Mol. Genet. 8, 1227-1236.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1227-1236
    • Li, H.1    Li, S.H.2    Cheng, A.L.3    Mangiarini, L.4    Bates, G.P.5    Li, X.J.6
  • 81
    • 0030666001 scopus 로고    scopus 로고
    • Ataxin-1 with an expanded glutamine tract alters nuclear matrix- associated structures
    • published erratum appears in Nature 1998;391:307
    • Skinner, P. J., Koshy, B. T., Cummings, C. J., et al. (1997) Ataxin-1 with an expanded glutamine tract alters nuclear matrix- associated structures [published erratum appears in Nature 1998;391:307]. Nature 389, 971-974.
    • (1997) Nature , vol.389 , pp. 971-974
    • Skinner, P.J.1    Koshy, B.T.2    Cummings, C.J.3
  • 82
    • 0030752709 scopus 로고    scopus 로고
    • Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
    • DiFiglia, M., Sapp, E., Chase, K. O., et al. (1997) Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277, 1990-1993.
    • (1997) Science , vol.277 , pp. 1990-1993
    • DiFiglia, M.1    Sapp, E.2    Chase, K.O.3
  • 83
    • 0033119123 scopus 로고    scopus 로고
    • Nuclear and neuropil aggregates in Huntington's disease: Relationship to neuropathology
    • Gutekunst, C. A., Li, S. H., Yi, H., et al. (1999) Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology. J. Neurosci. 19, 2522-2534.
    • (1999) J. Neurosci. , vol.19 , pp. 2522-2534
    • Gutekunst, C.A.1    Li, S.H.2    Yi, H.3
  • 84
    • 0034979307 scopus 로고    scopus 로고
    • Distinct behavioral and neuropathological abnormalities in transgenic mouse models of HD and DRPLA
    • Schilling, G., Jinnah, H. A., Gonzales, V., et al. (2001) Distinct behavioral and neuropathological abnormalities in transgenic mouse models of HD and DRPLA. Neurobiol. Dis. 8, 405-418.
    • (2001) Neurobiol. Dis. , vol.8 , pp. 405-418
    • Schilling, G.1    Jinnah, H.A.2    Gonzales, V.3
  • 85
    • 0035394668 scopus 로고    scopus 로고
    • Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice
    • Cummings, C. J., Sun, Y., Opal, P., 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. 1511-1518
    • Cummings, C.J.1    Sun, Y.2    Opal, P.3
  • 86
    • 0037444446 scopus 로고    scopus 로고
    • Heat shock protein 70 chaperone overexpression ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model by reducing nuclear-localized mutant androgen receptor protein
    • Adachi, H., Katsuno, M., Minamiyama, M., et al. (2003) Heat shock protein 70 chaperone overexpression ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model by reducing nuclear-localized mutant androgen receptor protein. J. Neurosci. 23, 2203-2211.
    • (2003) J. Neurosci. , vol.23 , pp. 2203-2211
    • Adachi, H.1    Katsuno, M.2    Minamiyama, M.3
  • 87
    • 0347928859 scopus 로고    scopus 로고
    • Overexpression of heat shock protein 70 in R6/2 Huntington's disease mice has only modest effects on disease progression
    • Hansson, O., Nylandsted, J., Castilho, R. F., Leist, M., Jaattela, M., and Brundin, P. (2003) Overexpression of heat shock protein 70 in R6/2 Huntington's disease mice has only modest effects on disease progression. Brain Res. 970, 47-57.
    • (2003) Brain Res. , vol.970 , pp. 47-57
    • Hansson, O.1    Nylandsted, J.2    Castilho, R.F.3    Leist, M.4    Jaattela, M.5    Brundin, P.6
  • 88
    • 3242695184 scopus 로고    scopus 로고
    • Progressive decrease in chaperone protein levels in a mouse model of huntington's disease and induction of stress proteins as a therapeutic approach
    • Hay, D. G., Sathasivam, K., Tobaben, S., et al. (2004) Progressive decrease in chaperone protein levels in a mouse model of huntington's disease and induction of stress proteins as a therapeutic approach. Hum. Mol. Genet. 13, 1389-1405.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1389-1405
    • Hay, D.G.1    Sathasivam, K.2    Tobaben, S.3
  • 89
    • 11244281642 scopus 로고    scopus 로고
    • Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice
    • Helmlinger, D., Bonnet, J., Mandel, J. L., Trottier, Y., and Devys, D. (2004) Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice. J. Biol. Chem. 279, 55969-55977.
    • (2004) J. Biol. Chem. , vol.279 , pp. 55969-55977
    • Helmlinger, D.1    Bonnet, J.2    Mandel, J.L.3    Trottier, Y.4    Devys, D.5
  • 90
    • 0032568517 scopus 로고    scopus 로고
    • Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human huntington disease gene
    • Cha, J. H., Kosinski, C. M., Kerner, J. A., et al. (1998) Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human huntington disease gene. Proc. Natl. Acad. Sci. USA 95, 6480-6485.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 6480-6485
    • Cha, J.H.1    Kosinski, C.M.2    Kerner, J.A.3
  • 91
    • 0034702030 scopus 로고    scopus 로고
    • Decreased expression of striatal signaling genes in a mouse model of Huntington's disease
    • Luthi-Carter, R., Strand, A., Peters, N. L., et al. (2000) Decreased expression of striatal signaling genes in a mouse model of Huntington's disease. Hum. Mol. Genet. 9, 1259-1271.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1259-1271
    • Luthi-Carter, R.1    Strand, A.2    Peters, N.L.3
  • 92
    • 0033995175 scopus 로고    scopus 로고
    • Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1
    • Lin, X., Antalffy, B., Kang, D., Orr, H. T., and Zoghbi, H. Y. (2000) Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat. Neurosci. 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
  • 93
    • 0034660457 scopus 로고    scopus 로고
    • Neuroprotective effects of creatine in a transgenic mouse model of Huntington's disease
    • Ferrante, R. J., Andreassen, O. A., Jenkins, B. G., et al. (2000) Neuroprotective effects of creatine in a transgenic mouse model of Huntington's disease. J. Neurosci. 20, 4389-4397.
    • (2000) J. Neurosci. , vol.20 , pp. 4389-4397
    • Ferrante, R.J.1    Andreassen, O.A.2    Jenkins, B.G.3
  • 94
    • 0034743672 scopus 로고    scopus 로고
    • Creatine increase survival and delays motor symptoms in a transgenic animal model of Huntington's disease
    • Andreassen, O. A., Dedeoglu, A., Ferrante, R. J., et al. (2001) Creatine increase survival and delays motor symptoms in a transgenic animal model of Huntington's disease. Neurobiol. Dis. 8, 479-491.
    • (2001) Neurobiol. Dis. , vol.8 , pp. 479-491
    • Andreassen, O.A.1    Dedeoglu, A.2    Ferrante, R.J.3
  • 95
    • 0036523110 scopus 로고    scopus 로고
    • Therapeutic effects of coenzyme Q10 and remacemide in transgenic mouse models of Huntington's disease
    • Ferrante, R. J., Andreassen, O. A., Dedeoglu, A., et al. (2002) Therapeutic effects of coenzyme Q10 and remacemide in transgenic mouse models of Huntington's disease. J. Neurosci. 22, 1592-1599.
    • (2002) J. Neurosci. , vol.22 , pp. 1592-1599
    • Ferrante, R.J.1    Andreassen, O.A.2    Dedeoglu, A.3
  • 96
    • 0035960544 scopus 로고    scopus 로고
    • Coenzyme Q10 and remacemide hydrochloride ameliorate motor deficits in a Huntington's disease transgenic mouse model
    • Schilling, G., Coonfield, M. L., Ross, C. A., and Borchelt, D. R. (2001) Coenzyme Q10 and remacemide hydrochloride ameliorate motor deficits in a Huntington's disease transgenic mouse model. Neurosci. Lett. 315, 149-153.
    • (2001) Neurosci. Lett. , vol.315 , pp. 149-153
    • Schilling, G.1    Coonfield, M.L.2    Ross, C.A.3    Borchelt, D.R.4
  • 97
    • 0036652765 scopus 로고    scopus 로고
    • Riluzole prolongs survival time and alters nuclear inclusion formation in a transgenic mouse model of Huntington's disease
    • Schiefer, J., Landwehrmeyer, G. B., Luesse, H. G., et al. (2002) Riluzole prolongs survival time and alters nuclear inclusion formation in a transgenic mouse model of Huntington's disease. Mov. Disord. 17, 748-757.
    • (2002) Mov. Disord. , vol.17 , pp. 748-757
    • Schiefer, J.1    Landwehrmeyer, G.B.2    Luesse, H.G.3
  • 98
    • 0035968856 scopus 로고    scopus 로고
    • Lipoic acid improves survival in transgenic mouse models of Huntington's disease
    • Andreassen, O. A., Ferrante, R. J., Dedeoglu, A., and Beal, M. F. (2001) Lipoic acid improves survival in transgenic mouse models of Huntington's disease. Neuroreport 12, 3371-3373.
    • (2001) Neuroreport , vol.12 , pp. 3371-3373
    • Andreassen, O.A.1    Ferrante, R.J.2    Dedeoglu, A.3    Beal, M.F.4
  • 99
    • 0037971143 scopus 로고    scopus 로고
    • Increased survival and neuroprotective effects of BN82451 in a transgenic mouse model of Huntington's disease
    • Klivenyi, P., Ferrante, R. J., Gardian, G., Browne, S., Chabrier, P. F., and Beal, M. F. (2003) Increased survival and neuroprotective effects of BN82451 in a transgenic mouse model of Huntington's disease. J. Neurochem. 86, 267-272.
    • (2003) J. Neurochem. , vol.86 , pp. 267-272
    • Klivenyi, P.1    Ferrante, R.J.2    Gardian, G.3    Browne, S.4    Chabrier, P.F.5    Beal, M.F.6
  • 100
    • 0037126988 scopus 로고    scopus 로고
    • Essential fatty acids given from conception prevent topographies of motor deficit in a transgenic model of Huntington's disease
    • Clifford, J. J., Drago, J., Natoli, A. L., et al. (2002) Essential fatty acids given from conception prevent topographies of motor deficit in a transgenic model of Huntington's disease. Neuroscience 109, 81-88.
    • (2002) Neuroscience , vol.109 , pp. 81-88
    • Clifford, J.J.1    Drago, J.2    Natoli, A.L.3
  • 101
    • 0036172346 scopus 로고    scopus 로고
    • Prolonged survival and decreased abnormal movements in transgenic model of Huntington disease, with administration of the transglutaminase inhibitor cystamine
    • Karpuj, M. V., Becher, M. W., Springer, J. E., et al. (2002) Prolonged survival and decreased abnormal movements in transgenic model of Huntington disease, with administration of the transglutaminase inhibitor cystamine. Nat. Med. 8, 143-149.
    • (2002) Nat. Med. , vol.8 , pp. 143-149
    • Karpuj, M.V.1    Becher, M.W.2    Springer, J.E.3
  • 102
    • 0037109665 scopus 로고    scopus 로고
    • Therapeutic effects of cystamine in a murine model of Huntington's disease
    • Dedeoglu, A., Kubilus, J. K., Jeitner, T. M., et al. (2002) Therapeutic effects of cystamine in a murine model of Huntington's disease. J. Neurosci. 22, 8942-8950.
    • (2002) J. Neurosci. , vol.22 , pp. 8942-8950
    • Dedeoglu, A.1    Kubilus, J.K.2    Jeitner, T.M.3
  • 103
    • 31644446061 scopus 로고    scopus 로고
    • The protective effects of cystamine in the R6/2 Huntington's disease mouse involve mechanisms other than the inhibition of tissue transglutaminase
    • in press
    • Bailey, C. D. and Johnson, G. V. (2005) The protective effects of cystamine in the R6/2 Huntington's disease mouse involve mechanisms other than the inhibition of tissue transglutaminase. Neurobiol. Aging, in press.
    • (2005) Neurobiol. Aging
    • Bailey, C.D.1    Johnson, G.V.2
  • 104
    • 0037461730 scopus 로고    scopus 로고
    • Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders
    • Sanchez, I., Mahlke, C., and Yuan, J. (2003) Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders. Nature 421, 373-379.
    • (2003) Nature , vol.421 , pp. 373-379
    • Sanchez, I.1    Mahlke, C.2    Yuan, J.3
  • 105
    • 1642633757 scopus 로고    scopus 로고
    • Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease
    • Tanaka, M., Machida, Y., Niu, S., et al. (2004) Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease. Nat. Med. 10, 148-154.
    • (2004) Nat. Med. , vol.10 , pp. 148-154
    • Tanaka, M.1    Machida, Y.2    Niu, S.3
  • 106
    • 0037452775 scopus 로고    scopus 로고
    • Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease
    • Hockly, E., Richon, V. M., Woodman, B., et al. (2003) Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease. Proc. Natl. Acad. Sci. USA 100, 2041-2046.
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , pp. 2041-2046
    • Hockly, E.1    Richon, V.M.2    Woodman, B.3
  • 107
    • 0142157600 scopus 로고    scopus 로고
    • Histone deacetylase inhibition by sodium butyrate chemotherapy ameliorates the neurodegenerative phenotype in Huntington's disease mice
    • Ferrante, R. J., Kubilus, J. K., Lee, J., et al. (2003) Histone deacetylase inhibition by sodium butyrate chemotherapy ameliorates the neurodegenerative phenotype in Huntington's disease mice. J. Neurosci. 23, 9418-9427.
    • (2003) J. Neurosci. , vol.23 , pp. 9418-9427
    • Ferrante, R.J.1    Kubilus, J.K.2    Lee, J.3
  • 108
    • 19944431703 scopus 로고    scopus 로고
    • Neuroprotective effects of phenylbutyrate in the N171-82Q transgenic mouse model of Huntington's disease
    • Gardian, G., Browne, S. E., Choi, D. K., et al. (2005) Neuroprotective effects of phenylbutyrate in the N171-82Q transgenic mouse model of Huntington's disease. J. Biol. Chem. 280, 556-563.
    • (2005) J. Biol. Chem. , vol.280 , pp. 556-563
    • Gardian, G.1    Browne, S.E.2    Choi, D.K.3
  • 109
    • 2642586352 scopus 로고    scopus 로고
    • Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease
    • Ravikumar, B., Vacher, C., Berger, Z., et al. (2004) Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat. Genet. 36, 585-595.
    • (2004) Nat. Genet. , vol.36 , pp. 585-595
    • Ravikumar, B.1    Vacher, C.2    Berger, Z.3
  • 110
    • 2942733520 scopus 로고    scopus 로고
    • Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy
    • Minamiyama, M., Katsuno, M., Adachi, H., et al. (2004) Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Hum. Mol. Genet. 13, 1183-1192.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1183-1192
    • Minamiyama, M.1    Katsuno, M.2    Adachi, H.3
  • 111
    • 0033912716 scopus 로고    scopus 로고
    • Minocycline inhibits caspase-1 and caspase-3 expression and delays mortality in a transgenic mouse model of Huntington disease
    • Chen, M., Ona, V. O., Li, M., et al. (2000) Minocycline inhibits caspase-1 and caspase-3 expression and delays mortality in a transgenic mouse model of Huntington disease. Nat. Med. 6, 797-801.
    • (2000) Nat. Med. , vol.6 , pp. 797-801
    • Chen, M.1    Ona, V.O.2    Li, M.3
  • 112
    • 0042845880 scopus 로고    scopus 로고
    • Minocycline and doxycycline are not beneficial in a model of Huntington's disease
    • Smith, D. L., Woodman, B., Mahal, A., et al. (2003) Minocycline and doxycycline are not beneficial in a model of Huntington's disease. Ann. Neurol. 54, 186-196.
    • (2003) Ann. Neurol. , vol.54 , pp. 186-196
    • Smith, D.L.1    Woodman, B.2    Mahal, A.3
  • 113
    • 18744369020 scopus 로고    scopus 로고
    • Identification of benzothiazoles as potential polyglutamine aggregation inhibitors of Huntington's disease by using an automated filter retardation assay
    • Heiser, V., Engemann, S., Brocker, W., et al. (2002) Identification of benzothiazoles as potential polyglutamine aggregation inhibitors of Huntington's disease by using an automated filter retardation assay. Proc. Natl. Acad. Sci. USA 99 Suppl 4, 16400-16406.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , Issue.4 SUPPL. , pp. 16400-16406
    • Heiser, V.1    Engemann, S.2    Brocker, W.3
  • 114
    • 0038714285 scopus 로고    scopus 로고
    • Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy
    • Katsuno, M., Adachi, H., Doyu, M., et al. (2003) Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy. Nat. Med. 9, 768-773.
    • (2003) Nat. Med. , vol.9 , pp. 768-773
    • Katsuno, M.1    Adachi, H.2    Doyu, M.3
  • 115
    • 2442719008 scopus 로고    scopus 로고
    • Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy
    • Chevalier-Larsen, E. S., O'Brien, C. J., et al. (2004) Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy. J. Neurosci. 24, 4778-4786.
    • (2004) J. Neurosci. , vol.24 , pp. 4778-4786
    • Chevalier-Larsen, E.S.1    O'Brien, C.J.2
  • 116
    • 4043057946 scopus 로고    scopus 로고
    • RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia
    • Xia, H., Mao, Q., Eliason, S. L., et al. (2004) RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat. Med. 10, 816-820.
    • (2004) Nat. Med. , vol.10 , pp. 816-820
    • Xia, H.1    Mao, Q.2    Eliason, S.L.3
  • 117
    • 20244378556 scopus 로고    scopus 로고
    • RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model
    • Harper, S. Q., Staber, P. D., He, X., et al. (2005) RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model. Proc. Natl. Acad. Sci. USA 102, 5820-5825.
    • (2005) Proc. Natl. Acad. Sci. USA , vol.102 , pp. 5820-5825
    • Harper, S.Q.1    Staber, P.D.2    He, X.3
  • 118
    • 0034737299 scopus 로고    scopus 로고
    • Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease
    • Yamamoto, A., Lucas, J. J., and Hen, R. (2000) Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell 101, 57-66.
    • (2000) Cell , vol.101 , pp. 57-66
    • Yamamoto, A.1    Lucas, J.J.2    Hen, R.3
  • 119
    • 5444248681 scopus 로고    scopus 로고
    • Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice
    • Zu, T., Duvick, L. A., Kaytor, M. D., et al. (2004) Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. J. Neurosci. 24, 8853-8861.
    • (2004) J. Neurosci. , vol.24 , pp. 8853-8861
    • Zu, T.1    Duvick, L.A.2    Kaytor, M.D.3
  • 120
    • 0036417439 scopus 로고    scopus 로고
    • Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice
    • Peier, A. M. and Nelson, D. L. (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.M.1    Nelson, D.L.2
  • 122
    • 0031056685 scopus 로고    scopus 로고
    • Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
    • Mangiarini, L., Sathasivam, K., Mahal, A., Mott, R., Seller, M., and Bates, G. P. (1997) Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nat. Genet. 15, 197-200.
    • (1997) Nat. Genet. , vol.15 , pp. 197-200
    • Mangiarini, L.1    Sathasivam, K.2    Mahal, A.3    Mott, R.4    Seller, M.5    Bates, G.P.6
  • 123
    • 0032938295 scopus 로고    scopus 로고
    • Length-dependent gametic CAG repeat instability in the Huntington's disease knockin mouse
    • Wheeler, V. C., Auerbach, W., White, J. K., et al. (1999) Length-dependent gametic CAG repeat instability in the Huntington's disease knockin mouse. Hum. Mol. Genet. 8, 115-122.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 115-122
    • Wheeler, V.C.1    Auerbach, W.2    White, J.K.3
  • 124
    • 0030700381 scopus 로고    scopus 로고
    • Increased trinucleotide repeat instability with advanced maternal age
    • Kaytor, M. D., Burright, E. N., Duvick, L. A., Zoghbi, H. Y., and Orr, H. T. (1997) Increased trinucleotide repeat instability with advanced maternal age. Hum. Mol. Genet. 6, 2135-2139.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 2135-2139
    • Kaytor, M.D.1    Burright, E.N.2    Duvick, L.A.3    Zoghbi, H.Y.4    Orr, H.T.5
  • 125
    • 0034701278 scopus 로고    scopus 로고
    • Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus
    • Lorenzetti, D., Watase, K., Xu, B., Matzuk, M. M., Orr, H. T., and Zoghbi, H. Y. (2000) Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Hum. Mol. Genet. 9, 779-785.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 779-785
    • Lorenzetti, D.1    Watase, K.2    Xu, B.3    Matzuk, M.M.4    Orr, H.T.5    Zoghbi, H.Y.6
  • 126
    • 0034641887 scopus 로고    scopus 로고
    • Dramatic mutation instability in HD mouse striatum: Does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
    • Kennedy, L. and Shelbourne, P. F. (2000) Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease? Hum. Mol. Genet. 9, 2539-2544.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2539-2544
    • Kennedy, L.1    Shelbourne, P.F.2
  • 127
    • 0028339385 scopus 로고
    • Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
    • published erratum appears in Nat. Genet. 1994;7:113
    • Telenius, H., Kremer, B., Goldberg, Y. P., et al. (1994) Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm [published erratum appears in Nat. Genet. 1994;7:113]. Nat. Genet. 6, 409-414.
    • (1994) Nat. Genet. , vol.6 , pp. 409-414
    • Telenius, H.1    Kremer, B.2    Goldberg, Y.P.3
  • 128
    • 0346752132 scopus 로고    scopus 로고
    • Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
    • Kennedy, L., Evans, E., Chen, C. M., et al. (2003) Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis. Hum. Mol. Genet. 12, 3359-3367.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 3359-3367
    • Kennedy, L.1    Evans, E.2    Chen, C.M.3
  • 130
    • 0034194141 scopus 로고    scopus 로고
    • Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability
    • Seznec, H., Lia-Baldini, A. S., Duros, C., et al. (2000) Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum. Mol. Genet. 9, 1185-1194.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1185-1194
    • Seznec, H.1    Lia-Baldini, A.S.2    Duros, C.3
  • 131
    • 0034639711 scopus 로고    scopus 로고
    • Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
    • Fortune, M. T., Vassilopoulos, C., Coolbaugh, M. I., Siciliano, M. J., and Monckton, D. G. (2000) Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Hum. Mol. Genet. 9, 439-445.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 439-445
    • Fortune, M.T.1    Vassilopoulos, C.2    Coolbaugh, M.I.3    Siciliano, M.J.4    Monckton, D.G.5
  • 132
    • 0030752987 scopus 로고    scopus 로고
    • Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases
    • Pearson, C. E., Ewel, A., Acharya, S., Fishel, R. A., and Sinden, R. R. (1997) Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases. Hum. Mol. Genet. 6, 1117-1123.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1117-1123
    • Pearson, C.E.1    Ewel, A.2    Acharya, S.3    Fishel, R.A.4    Sinden, R.R.5
  • 133
    • 0032708840 scopus 로고    scopus 로고
    • Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
    • Manley, K., Shirley, T. L., Flaherty, L., and Messer, A. (1999) Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat. Genet. 23, 471-473.
    • (1999) Nat. Genet. , vol.23 , pp. 471-473
    • Manley, K.1    Shirley, T.L.2    Flaherty, L.3    Messer, A.4
  • 134
  • 135
    • 0037081784 scopus 로고    scopus 로고
    • Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knockin mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins
    • van den Broek, W. J., Nelen, M. R., Wansink, D. G., et al. (2002) Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knockin mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum. Mol. Genet. 11, 191-198.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 191-198
    • Van Den Broek, W.J.1    Nelen, M.R.2    Wansink, D.G.3
  • 136
    • 0037543991 scopus 로고    scopus 로고
    • CTG repeat instability and size variation timing in DNA repair-deficient mice
    • Savouret, C., Brisson, E., Essers, J., et al. (2003) CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J. 22, 2264-2273.
    • (2003) EMBO J. , vol.22 , pp. 2264-2273
    • Savouret, C.1    Brisson, E.2    Essers, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.