메뉴 건너뛰기




Volumn 480, Issue 7375, 2011, Pages 63-68

Mutations causing syndromic autism define an axis of synaptic pathophysiology

Author keywords

[No Author keywords available]

Indexed keywords

3,5 DIHYDROXYPHENYLGLYCINE; MAMMALIAN TARGET OF RAPAMYCIN; METABOTROPIC RECEPTOR 5;

EID: 82555196668     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature10658     Document Type: Article
Times cited : (507)

References (55)
  • 1
    • 34249735268 scopus 로고    scopus 로고
    • The epidemiologyof autism spectrum disorders
    • Newschaffer, C.J.et al. The epidemiologyof autism spectrum disorders.Annu. Rev. Public Health 28, 235-258 (2007).
    • (2007) Annu. Rev. Public Health , vol.28 , pp. 235-258
    • Newschaffer, C.J.1
  • 2
    • 79551594543 scopus 로고    scopus 로고
    • Toward fulfilling the promise of molecular medicine in fragile X syndrome
    • Krueger, D. D. & Bear, M. F. Toward fulfilling the promise of molecular medicine in fragile X syndrome. Annu. Rev. Med. 62, 411-429 (2011).
    • (2011) Annu. Rev. Med. , vol.62 , pp. 411-429
    • Krueger, D.D.1    Bear, M.F.2
  • 3
    • 54949144402 scopus 로고    scopus 로고
    • The autistic neuron: Troubled translation?
    • Kelleher, R. J. III & Bear, M. F. The autistic neuron: troubled translation? Cell 135, 401-406 (2008).
    • (2008) Cell , vol.135 , pp. 401-406
    • Bear, M.F.1
  • 4
    • 49149088555 scopus 로고    scopus 로고
    • 1/2 mouse model of tuberous sclerosis
    • 1/2 mouse model of tuberous sclerosis. Nature Med. 14, 843-848 (2008).
    • (2008) Nature Med , vol.14 , pp. 843-848
    • Ehninger, D.1
  • 5
    • 45849110311 scopus 로고    scopus 로고
    • Responseofaneuronal modeloftuberous sclerosistomammalian targetofrapamycin (mTOR) inhibitors: Effectsonmtorc1 and akt signaling lead to improved survival and function
    • Meikle, L.etal. Responseofaneuronal modeloftuberous sclerosistomammalian targetofrapamycin (mTOR) inhibitors: effectsonmTORC1 and Akt signaling lead to improved survival and function. J. Neurosci. 28, 5422-5432 (2008).
    • (2008) J. Neurosci. , vol.28 , pp. 5422-5432
    • Meikle, L.1
  • 7
    • 70350412265 scopus 로고    scopus 로고
    • From mtor to cognition: Molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis
    • Ehninger, D., de Vries, P. J. & Silva, A. J. From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis. J. Intellect. Disabil. Res. 53, 838-851 (2009).
    • (2009) J. Intellect. Disabil. Res. , vol.53 , pp. 838-851
    • Ehninger, D.1    De Vries, P.J.2    Silva, A.J.3
  • 9
    • 0028289473 scopus 로고
    • Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients
    • DOI 10.1038/ng0294-193
    • Green, A. J., Smith, M. & Yates, J. R. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nature Genet. 6, 193-196 (1994). (Pubitemid 24188602)
    • (1994) Nature Genetics , vol.6 , Issue.2 , pp. 193-196
    • Green, A.J.1    Smith, M.2    Yates, J.R.W.3
  • 10
    • 34547168930 scopus 로고    scopus 로고
    • The tuberous sclerosis complex proteins - a GRIPP on cognition and neurodevelopment
    • DOI 10.1016/j.molmed.2007.06.003, PII S1471491407001086
    • de Vries, P. J. & Howe, C. J. The tuberous sclerosis complex proteins-a GRIPP on cognition and neurodevelopment. Trends Mol. Med. 13, 319-326 (2007). (Pubitemid 47126986)
    • (2007) Trends in Molecular Medicine , vol.13 , Issue.8 , pp. 319-326
    • De Vries, P.J.1    Howe, C.J.2
  • 14
    • 75549085357 scopus 로고    scopus 로고
    • Tsc2-rheb signaling regulates epha-mediated axon guidance
    • Nie, D.etal. Tsc2-Rheb signaling regulates EphA-mediated axon guidance. Nature Neurosci. 13, 163-172 (2010).
    • (2010) Nature Neurosci , vol.13 , pp. 163-172
    • Nie, D.1
  • 15
    • 77954648172 scopus 로고    scopus 로고
    • Altered ultrasonic vocalizations in a tuberous sclerosis mouse model of autism
    • Young, D. M., Schenk, A. K., Yang, S. B., Jan, Y. N. & Jan, L. Y. Altered ultrasonic vocalizations in a tuberous sclerosis mouse model of autism. Proc. Natl Acad. Sci. USA 107, 11074-11079 (2010).
    • (2010) Proc. Natl Acad. Sci. USA , vol.107 , pp. 11074-11079
    • Young, D.M.1    Schenk, A.K.2    Yang, S.B.3    Jan, Y.N.4    Jan, L.Y.5
  • 16
    • 75749114797 scopus 로고    scopus 로고
    • Mtor signaling: At the crossroads of plasticity, memory and disease
    • Hoeffer, C. A. & Klann, E. mTOR signaling: at the crossroads of plasticity, memory and disease. Trends Neurosci. 33, 67-75 (2010).
    • (2010) Trends Neurosci , vol.33 , pp. 67-75
    • Hoeffer, C.A.1    Klann, E.2
  • 17
    • 74949102875 scopus 로고    scopus 로고
    • Dysregulation of mtor signaling in fragile X syndrome
    • Sharma, A. et al. Dysregulation of mTOR signaling in fragile X syndrome. J. Neurosci. 30, 694-702 (2010).
    • (2010) J. Neurosci. , vol.30 , pp. 694-702
    • Sharma, A.1
  • 18
    • 0034685813 scopus 로고    scopus 로고
    • Role for rapid dendritic protein synthesis in hippocampal mglur-dependent long-term depression
    • Huber, K. M., Kayser, M. S. & Bear, M. F. Role for rapid dendritic protein synthesis in hippocampal mGluR-dependent long-term depression. Science 288, 1254-1257 (2000).
    • (2000) Science , vol.288 , pp. 1254-1257
    • Huber, K.M.1    Kayser, M.S.2    Bear, M.F.3
  • 19
    • 0034942216 scopus 로고    scopus 로고
    • Chemical induction of mGluR5- and protein synthesis-dependent long-term depression in hippocampal area CA1
    • Huber, K. M., Roder, J.C.& Bear, M. F.Chemical inductionof mGluR5-and protein synthesis-dependent long-term depression in hippocampal area CA1. J. Neurophysiol. 86, 321-325 (2001). (Pubitemid 32623237)
    • (2001) Journal of Neurophysiology , vol.86 , Issue.1 , pp. 321-325
    • Huber, K.M.1    Roder, J.C.2    Bear, M.F.3
  • 21
    • 3042647610 scopus 로고    scopus 로고
    • The mGluR theory of fragile X mental retardation
    • DOI 10.1016/j.tins.2004.04.009, PII S0166223604001328
    • Bear, M. F., Huber, K. M. & Warren, S. T. The mGluR theory of fragile X mental retardation. Trends Neurosci. 27, 370-377 (2004). (Pubitemid 38829251)
    • (2004) Trends in Neurosciences , vol.27 , Issue.7 , pp. 370-377
    • Bear, M.F.1    Huber, K.M.2    Warren, S.T.3
  • 22
    • 2442637740 scopus 로고    scopus 로고
    • Extracellular signal-regulated protein kinase activation is required for metabotropic glutamate receptor-dependent long-term depression in hippocampal area CA1
    • DOI 10.1523/JNEUROSCI.5407-03.2004
    • Gallagher, S. M., Daly, C. A., Bear, M.F.& Huber, K. M. Extracellular signal-regulated protein kinase activation is required for metabotropic glutamate receptor-dependent long-term depression in hippocampal area CA1. J. Neurosci. 24, 4859-4864 (2004). (Pubitemid 38668210)
    • (2004) Journal of Neuroscience , vol.24 , Issue.20 , pp. 4859-4864
    • Gallagher, S.M.1    Daly, C.A.2    Bear, M.F.3    Huber, K.M.4
  • 23
    • 78449259794 scopus 로고    scopus 로고
    • Hypersensitivity to mglur5 and erk1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome
    • Osterweil, E.K., Krueger, D.D., Reinhold, K.& Bear, M.F.Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome. J. Neurosci. 30, 15616-15627 (2010).
    • (2010) J. Neurosci. , vol.30 , pp. 15616-15627
    • Osterweil, E.K.1    Krueger, D.D.2    Reinhold, K.3    Bear, M.F.4
  • 24
    • 0035576674 scopus 로고    scopus 로고
    • A characterisation of long-term depression induced by metabotropic glutamate receptor activation in the rat hippocampus in vitro
    • DOI 10.1111/j.1469-7793.2001.00421.x
    • Fitzjohn, S. M. et al. A characterisation of long-term depression induced by metabotropic glutamate receptor activation in the rat hippocampus in vitro. J. Physiol. 537, 421-430 (2001). (Pubitemid 33130499)
    • (2001) Journal of Physiology , vol.537 , Issue.2 , pp. 421-430
    • Fitzjohn, S.M.1    Palmer, M.J.2    May, J.E.R.3    Neeson, A.4    Morris, S.A.C.5    Collingridge, G.L.6
  • 25
    • 15244356272 scopus 로고    scopus 로고
    • Developmental switch in synaptic mechanisms of hippocampal metabotropic glutamate receptor-dependent long-term depression
    • DOI 10.1523/JNEUROSCI.3652-04.2005
    • Nosyreva, E. D. & Huber, K. M. Developmental switch in synaptic mechanisms of hippocampalmetabotropic glutamatereceptor-dependentlong- termdepression. J. Neurosci. 25, 2992-3001 (2005). (Pubitemid 40389257)
    • (2005) Journal of Neuroscience , vol.25 , Issue.11 , pp. 2992-3001
    • Nosyreva, E.D.1    Huber, K.M.2
  • 26
    • 79956327026 scopus 로고    scopus 로고
    • Calcium/calmodulin-dependent protein kinase II mediates group i metabotropic glutamate receptor-dependent protein synthesis and long-term depression in rat hippocampus
    • Mockett, B. G. et al. Calcium/calmodulin-dependent protein kinase II mediates group I metabotropic glutamate receptor-dependent protein synthesis and long-term depression in rat hippocampus. J. Neurosci. 31, 7380-7391 (2011).
    • (2011) J. Neurosci. , vol.31 , pp. 7380-7391
    • Mockett, B.G.1
  • 27
    • 76849116197 scopus 로고    scopus 로고
    • Group 1 mglur-dependent synaptic long-term depression: Mechanisms and implications for circuitry and disease
    • Luscher, C. & Huber, K. M. Group 1 mGluR-dependent synaptic long-term depression: mechanisms and implications for circuitry and disease. Neuron 65, 445-459 (2010).
    • (2010) Neuron , vol.65 , pp. 445-459
    • Luscher, C.1    Huber, K.M.2
  • 29
    • 46149123205 scopus 로고    scopus 로고
    • Rapid Translation of Arc/Arg3.1 Selectively Mediates mGluR-Dependent LTD through Persistent Increases in AMPAR Endocytosis Rate
    • DOI 10.1016/j.neuron.2008.05.014, PII S0896627308004492
    • Waung, M. W., Pfeiffer, B. E., Nosyreva, E. D., Ronesi, J. A. & Huber, K. M. Rapid translation of Arc/Arg3.1 selectively mediates mGluR-dependent LTD through persistent increases in AMPAR endocytosis rate. Neuron 59, 84-97 (2008). (Pubitemid 351905854)
    • (2008) Neuron , vol.59 , Issue.1 , pp. 84-97
    • Waung, M.W.1    Pfeiffer, B.E.2    Nosyreva, E.D.3    Ronesi, J.A.4    Huber, K.M.5
  • 32
    • 58149193205 scopus 로고    scopus 로고
    • Allosteric modulators of gpcrs: A novel approach for the treatment of CNS disorders
    • Conn, P. J., Christopoulos, A. & Lindsley, C. W. Allosteric modulators of GPCRs: a novel approach for the treatment of CNS disorders. Nature Rev. Drug Discov. 8, 41-54 (2009).
    • (2009) Nature Rev. Drug Discov. , vol.8 , pp. 41-54
    • Conn, P.J.1    Christopoulos, A.2    Lindsley, C.W.3
  • 34
    • 3543028003 scopus 로고    scopus 로고
    • The dorsal hippocampus is essential for context discrimination but not for contextual conditioning
    • DOI 10.1037//0735-7044.112.4.863
    • Frankland, P. W., Cestari, V., Filipkowski, R. K., McDonald, R. J. & Silva, A. J. The dorsal hippocampus is essential for context discrimination but not for contextual conditioning. Behav. Neurosci. 112, 863-874 (1998). (Pubitemid 28397368)
    • (1998) Behavioral Neuroscience , vol.112 , Issue.4 , pp. 863-874
    • Frankland, P.W.1    Filipkowski, R.K.2    Cestari, V.3    McDonald, R.J.4    Silva, A.J.5
  • 35
    • 0030954048 scopus 로고    scopus 로고
    • Mice lacking metabotropic glutamate receptor 5 show impaired learning and reduced ca1 long-term potentiation (LTP) but normal ca3 ltp
    • Lu, Y. M. et al. Mice lacking metabotropic glutamate receptor 5 show impaired learning and reduced CA1 long-term potentiation (LTP) but normal CA3 LTP. J. Neurosci. 17, 5196-5205 (1997).
    • (1997) J. Neurosci. , vol.17 , pp. 5196-5205
    • Lu, Y.M.1
  • 36
    • 0032771748 scopus 로고    scopus 로고
    • Differential impairment of auditory and contextual fear conditioning by protein synthesis inhibition in C57BL/6N mice
    • DOI 10.1037/0735-7044.113.3.496
    • Stiedl, O., Palve, M., Radulovic, J., Birkenfeld, K.& Spiess, J. Differential impairment of auditory and contextual fear conditioning by protein synthesis inhibition in C57BL/6N mice. Behav. Neurosci. 113, 496-506 (1999). (Pubitemid 29340062)
    • (1999) Behavioral Neuroscience , vol.113 , Issue.3 , pp. 496-506
    • Stiedl, O.1    Palve, M.2    Radulovic, J.3    Birkenfeld, K.4    Spiess, J.5
  • 37
    • 53849110899 scopus 로고    scopus 로고
    • Fragile X syndrome: Loss of local mrna regulation alters synaptic development and function
    • Bassell, G. J. & Warren, S. T. Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron 60, 201-214 (2008).
    • (2008) Neuron , vol.60 , pp. 201-214
    • Bassell, G.J.1    Warren, S.T.2
  • 38
    • 79960779323 scopus 로고    scopus 로고
    • FMRP stalls ribosomal translocation on mrnas linked to synaptic function and autism
    • Darnell, J. C. et al. FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell 146, 247-261 (2011).
    • (2011) Cell , vol.146 , pp. 247-261
    • Darnell, J.C.1
  • 40
    • 49649106751 scopus 로고    scopus 로고
    • S6k1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade
    • Narayanan, U. et al. S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade. J. Biol. Chem. 283, 18478-18482 (2008).
    • (2008) J. Biol. Chem. , vol.283 , pp. 18478-18482
    • Narayanan, U.1
  • 41
    • 0141427915 scopus 로고    scopus 로고
    • Epidemiological surveys of autism and other pervasive developmental disorders: An update
    • DOI 10.1023/A:1025054610557
    • Fombonne, E. Epidemiological surveys of autism and other pervasive developmental disorders: an update. J. Autism Dev. Disord. 33, 365-382 (2003). (Pubitemid 37127933)
    • (2003) Journal of Autism and Developmental Disorders , vol.33 , Issue.4 , pp. 365-382
    • Fombonne, E.1
  • 42
    • 54049106103 scopus 로고    scopus 로고
    • Failureofneuronal homeostasis results incommon neuropsychiatric phenotypes
    • Ramocki, M.B.& Zoghbi, H. Y.Failureofneuronal homeostasis results incommon neuropsychiatric phenotypes. Nature 455, 912-918 (2008).
    • (2008) Nature , vol.455 , pp. 912-918
    • Ramocki, M.B.1    Zoghbi, H.Y.2
  • 43
    • 77449158032 scopus 로고    scopus 로고
    • Activationof mglur5 induces rapid and long-lasting protein kinase D phosphorylation in hippocampal neurons
    • Krueger, D.D., Osterweil, E.K.& Bear, M. F. Activationof mGluR5 induces rapid and long-lasting protein kinase D phosphorylation in hippocampal neurons. J. Mol. Neurosci. 42, 1-8 (2010).
    • (2010) J. Mol. Neurosci. , vol.42 , pp. 1-8
    • Krueger, D.D.1    Osterweil, E.K.2    Bear, M.F.3
  • 44
    • 33749316349 scopus 로고    scopus 로고
    • Zhu, X. et al. Genes Dev. 20, 2739-2753 (2006).
    • (2006) Genes Dev , vol.20 , pp. 2739-2753
    • Zhu, X.1
  • 45
  • 47
    • 2642653223 scopus 로고    scopus 로고
    • Treier, M. et al. Genes Dev. 12, 1691-1704 (1998).
    • (1998) Genes Dev , vol.12 , pp. 1691-1704
    • Treier, M.1
  • 49
    • 34547149088 scopus 로고    scopus 로고
    • Lepore, D. A. et al. Stem Cells 25, 1730-1736 (2007).
    • (2007) Stem Cells , vol.25 , pp. 1730-1736
    • Lepore, D.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.