메뉴 건너뛰기




Volumn 3, Issue 3, 2011, Pages 193-210

Targeted treatments for fragile X syndrome

Author keywords

Autism; Dendritic translation; FMRP; Fragile X syndrome; GABA agonists; Metobotropic glutamate receptors; Signal transduction; Synaptic plasticity

Indexed keywords


EID: 80052347724     PISSN: 18661947     EISSN: 18661955     Source Type: Journal    
DOI: 10.1007/s11689-011-9074-7     Document Type: Article
Times cited : (91)

References (146)
  • 1
    • 77954143021 scopus 로고    scopus 로고
    • Early developmental alterations in GABAergic protein expression in fragile X knockout mice
    • Adusei DC, Pacey LK, Chen D, Hampson DR. Early developmental alterations in GABAergic protein expression in fragile X knockout mice. Neuropharmacology. 2010; 59: 167-71.
    • (2010) Neuropharmacology , vol.59 , pp. 167-171
    • Adusei, D.C.1    Pacey, L.K.2    Chen, D.3    Hampson, D.R.4
  • 2
    • 1642336232 scopus 로고    scopus 로고
    • Metabotropic glutamate receptor activation regulates fragile X mental retardation protein and FMR1 mRNA localization differentially in dendrites and at synapses
    • Antar LN, Afroz R, Dictenberg JB, Carroll RC, Bassell GJ. Metabotropic glutamate receptor activation regulates fragile X mental retardation protein and FMR1 mRNA localization differentially in dendrites and at synapses. J Neurosci. 2004; 24: 2648-55.
    • (2004) J Neurosci , vol.24 , pp. 2648-2655
    • Antar, L.N.1    Afroz, R.2    Dictenberg, J.B.3    Carroll, R.C.4    Bassell, G.J.5
  • 3
    • 13844316424 scopus 로고    scopus 로고
    • The fragile X mental retardation protein and group I metabotropic glutamate receptors regulate levels of mRNA granules in brain
    • Aschrafi A, Cunningham BA, Edelman GM, Vanderklish PW. The fragile X mental retardation protein and group I metabotropic glutamate receptors regulate levels of mRNA granules in brain. Proc Natl Acad Sci USA. 2005; 102: 2180-5.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 2180-2185
    • Aschrafi, A.1    Cunningham, B.A.2    Edelman, G.M.3    Vanderklish, P.W.4
  • 5
    • 17844372504 scopus 로고    scopus 로고
    • From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome
    • Bagni C, Greenough WT. From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome. Nat Rev Neurosci. 2005; 6: 376-87.
    • (2005) Nat Rev Neurosci , vol.6 , pp. 376-387
    • Bagni, C.1    Greenough, W.T.2
  • 6
    • 0344962385 scopus 로고    scopus 로고
    • Understanding fragile X syndrome: insights from animal models
    • Bakker CE, Oostra BA. Understanding fragile X syndrome: insights from animal models. Cytogenet Genome Res. 2003; 100: 111-23.
    • (2003) Cytogenet Genome Res , vol.100 , pp. 111-123
    • Bakker, C.E.1    Oostra, B.A.2
  • 7
    • 53849110899 scopus 로고    scopus 로고
    • Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function
    • Bassell GJ, Warren ST. Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron. 2008; 60: 201-14.
    • (2008) Neuron , vol.60 , pp. 201-214
    • Bassell, G.J.1    Warren, S.T.2
  • 8
    • 23944509714 scopus 로고    scopus 로고
    • Therapeutic implications of the mGluR theory of fragile X mental retardation
    • Bear MF. Therapeutic implications of the mGluR theory of fragile X mental retardation. Genes Brain Behav. 2005; 4: 393-8.
    • (2005) Genes Brain Behav , vol.4 , pp. 393-398
    • Bear, M.F.1
  • 9
    • 3042647610 scopus 로고    scopus 로고
    • The mGluR theory of fragile X mental retardation
    • Bear MF, Huber KM, Warren ST. The mGluR theory of fragile X mental retardation. Trends Neurosci. 2004; 27: 370-7.
    • (2004) Trends Neurosci , vol.27 , pp. 370-377
    • Bear, M.F.1    Huber, K.M.2    Warren, S.T.3
  • 11
    • 0027397544 scopus 로고
    • Inositol trisphosphate and calcium signalling
    • Berridge MJ. Inositol trisphosphate and calcium signalling. Nature. 1993; 361: 315-25.
    • (1993) Nature , vol.361 , pp. 315-325
    • Berridge, M.J.1
  • 12
    • 0031930176 scopus 로고    scopus 로고
    • Overexpression of fragile X gene (FMR-1) transcripts increases cAMP production in neural cells
    • Berry-Kravis E, Ciurlionis R. Overexpression of fragile X gene (FMR-1) transcripts increases cAMP production in neural cells. J Neurosci Res. 1998; 51: 41-8.
    • (1998) J Neurosci Res , vol.51 , pp. 41-48
    • Berry-Kravis, E.1    Ciurlionis, R.2
  • 13
    • 0028839296 scopus 로고
    • Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations
    • Berry-Kravis E, Hicar M. Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations. Pediatr Res. 1995; 38: 638-43.
    • (1995) Pediatr Res , vol.38 , pp. 638-643
    • Berry-Kravis, E.1    Hicar, M.2
  • 14
  • 15
    • 33750962399 scopus 로고    scopus 로고
    • Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial
    • Berry-Kravis E, Krause SE, Block SS, Guter S, Wuu J, Leurgans S, et al. Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial. J Child Adolesc Psychopharm. 2006; 16: 525-40.
    • (2006) J Child Adolesc Psychopharm , vol.16 , pp. 525-540
    • Berry-Kravis, E.1    Krause, S.E.2    Block, S.S.3    Guter, S.4    Wuu, J.5    Leurgans, S.6
  • 16
    • 36749009300 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome (FXTAS): clinical features, genetics and testing guidelines
    • Berry-Kravis E, Abrams L, Coffey S, Hall D, Greco C, Gane L, et al. Fragile X-associated tremor/ataxia syndrome (FXTAS): clinical features, genetics and testing guidelines. Mov Disord. 2007; 22: 2018-30.
    • (2007) Mov Disord , vol.22 , pp. 2018-2030
    • Berry-Kravis, E.1    Abrams, L.2    Coffey, S.3    Hall, D.4    Greco, C.5    Gane, L.6
  • 17
    • 51249098804 scopus 로고    scopus 로고
    • Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome
    • Berry-Kravis E, Sumis A, Hervey C, Nelson M, Porges SW, Weng N, et al. Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome. J Dev Behav Pediatr. 2008a; 29: 293-302.
    • (2008) J Dev Behav Pediatr , vol.29 , pp. 293-302
    • Berry-Kravis, E.1    Sumis, A.2    Hervey, C.3    Nelson, M.4    Porges, S.W.5    Weng, N.6
  • 18
    • 53949086485 scopus 로고    scopus 로고
    • Characterization of potential outcome measures for future clinical trials in fragile X syndrome
    • Berry-Kravis E, Lara R, Kim O-K, Sumis A, Wuu J. Characterization of potential outcome measures for future clinical trials in fragile X syndrome. J Autism Dev Disord. 2008b; 38: 1751-7.
    • (2008) J Autism Dev Disord , vol.38 , pp. 1751-1757
    • Berry-Kravis, E.1    Lara, R.2    Kim, O.-K.3    Sumis, A.4    Wuu, J.5
  • 19
    • 65949096495 scopus 로고    scopus 로고
    • A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
    • Berry-Kravis E, Hessl D, Coffey S, Hervey C, Schneider A, Yuhas J, et al. A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. J Med Genet. 2009; 46: 266-71.
    • (2009) J Med Genet , vol.46 , pp. 266-271
    • Berry-Kravis, E.1    Hessl, D.2    Coffey, S.3    Hervey, C.4    Schneider, A.5    Yuhas, J.6
  • 20
    • 62149089881 scopus 로고    scopus 로고
    • Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model
    • Bilousova TV, Dansie L, Ngo M, Aye J, Charles JR, Ethell DW, et al. Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model. J Med Genet. 2009; 46: 94-102.
    • (2009) J Med Genet , vol.46 , pp. 94-102
    • Bilousova, T.V.1    Dansie, L.2    Ngo, M.3    Aye, J.4    Charles, J.R.5    Ethell, D.W.6
  • 21
    • 77952539696 scopus 로고    scopus 로고
    • Arginines of the RGG box regulate FMRP association with polyribosomes and mRNA
    • Blackwell E, Zhang X, Ceman S. Arginines of the RGG box regulate FMRP association with polyribosomes and mRNA. Hum Mol Genet. 2010; 19: 1314-23.
    • (2010) Hum Mol Genet , vol.19 , pp. 1314-1323
    • Blackwell, E.1    Zhang, X.2    Ceman, S.3
  • 22
    • 0034136256 scopus 로고    scopus 로고
    • Behavior and autonomic nervous system function assessed via heart period measures: the case of hyperarousal in boys with fragile X syndrome
    • Boccia JL, Roberts JE. Behavior and autonomic nervous system function assessed via heart period measures: the case of hyperarousal in boys with fragile X syndrome. Behav Res Meth Instrum Comput. 2000; 32: 5-10.
    • (2000) Behav Res Meth Instrum Comput , vol.32 , pp. 5-10
    • Boccia, J.L.1    Roberts, J.E.2
  • 23
    • 52949109182 scopus 로고    scopus 로고
    • Excess protein synthesis in Drosophila fragile X mutants impairs long-term memory
    • Bolduc FV, Bell K, Cox H, Broadie KS, Tully T. Excess protein synthesis in Drosophila fragile X mutants impairs long-term memory. Nat Neurosci. 2008; 11(10): 1143-5.
    • (2008) Nat Neurosci , vol.11 , Issue.10 , pp. 1143-1145
    • Bolduc, F.V.1    Bell, K.2    Cox, H.3    Broadie, K.S.4    Tully, T.5
  • 24
    • 33746864085 scopus 로고    scopus 로고
    • Fmr1 knockout mice are impaired in a leverpress escape/avoidance task
    • Brennan FX, Albeck DS, Paylor R. Fmr1 knockout mice are impaired in a leverpress escape/avoidance task. Genes Brain Behav. 2006; 5: 467-71.
    • (2006) Genes Brain Behav , vol.5 , pp. 467-471
    • Brennan, F.X.1    Albeck, D.S.2    Paylor, R.3
  • 25
    • 18044379515 scopus 로고    scopus 로고
    • Microarray identification of FMRP associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome
    • Brown V, Jin P, Ceman S, Darnell JC, O'Donnell WT, Tenenbaum SA, et al. Microarray identification of FMRP associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. Cell. 2001; 107: 477-87.
    • (2001) Cell , vol.107 , pp. 477-487
    • Brown, V.1    Jin, P.2    Ceman, S.3    Darnell, J.C.4    O'Donnell, W.T.5    Tenenbaum, S.A.6
  • 26
    • 77954145556 scopus 로고    scopus 로고
    • Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack
    • Brown M, Kronengold J, Gazula V-R, Chen Y, Strumbos JG, Sigworth FJ, et al. Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack. Nat Neurosci. 2010; 13: 819-21.
    • (2010) Nat Neurosci , vol.13 , pp. 819-821
    • Brown, M.1    Kronengold, J.2    Gazula, V.-R.3    Chen, Y.4    Strumbos, J.G.5    Sigworth, F.J.6
  • 27
    • 14444270606 scopus 로고    scopus 로고
    • Characterization of the anticonvulsant properties of ganaxolone (CCD 1042; 3alpha-hydroxy-3beta-methyl-5alpha-pregnan-20-one), a selective, high-affinity, steroid modulator of the gamma-aminobutyric acid(A) receptor
    • Carter RB, Wood PL, Wieland S, Hawkinson JE, Belelli D, Lambert JJ, et al. Characterization of the anticonvulsant properties of ganaxolone (CCD 1042; 3alpha-hydroxy-3beta-methyl-5alpha-pregnan-20-one), a selective, high-affinity, steroid modulator of the gamma-aminobutyric acid(A) receptor. J Pharmacol Exp Ther. 1997; 280: 1284-95.
    • (1997) J Pharmacol Exp Ther , vol.280 , pp. 1284-1295
    • Carter, R.B.1    Wood, P.L.2    Wieland, S.3    Hawkinson, J.E.4    Belelli, D.5    Lambert, J.J.6
  • 28
    • 0033499661 scopus 로고    scopus 로고
    • Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex
    • Ceman S, Brown V, Warren ST. Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex. Mol Cell Biol. 1999; 19: 7925-32.
    • (1999) Mol Cell Biol , vol.19 , pp. 7925-7932
    • Ceman, S.1    Brown, V.2    Warren, S.T.3
  • 29
    • 41049102573 scopus 로고    scopus 로고
    • Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila
    • Chang S, Bray SM, Li Z, Zarnescu DC, He C, Jin P, et al. Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. Nat Chem Biol. 2008; 4: 256-63.
    • (2008) Nat Chem Biol , vol.4 , pp. 256-263
    • Chang, S.1    Bray, S.M.2    Li, Z.3    Zarnescu, D.C.4    He, C.5    Jin, P.6
  • 30
    • 60849094795 scopus 로고    scopus 로고
    • Phosphorylation of FMRP inhibits association with Dicer
    • Cheever A, Ceman S. Phosphorylation of FMRP inhibits association with Dicer. RNA. 2009; 15: 362-6.
    • (2009) Rna , vol.15 , pp. 362-366
    • Cheever, A.1    Ceman, S.2
  • 31
    • 0042624778 scopus 로고    scopus 로고
    • The fragile X mental retardation protein binds and regulates a novel class of mRNAs containing U rich target sequences
    • Chen L, Yun SW, Seto J, Liu W, Toth M. The fragile X mental retardation protein binds and regulates a novel class of mRNAs containing U rich target sequences. Neuroscience. 2003; 120: 1005-17.
    • (2003) Neuroscience , vol.120 , pp. 1005-1017
    • Chen, L.1    Yun, S.W.2    Seto, J.3    Liu, W.4    Toth, M.5
  • 32
    • 77955914539 scopus 로고    scopus 로고
    • Physiological activation of synaptic Rac>PAK (p-21 activated kinase) signaling is defective in a mouse model of fragile X syndrome
    • Chen LY, Rex CS, Babayan AH, Kramar EA, Lynch G, Gall CM, et al. Physiological activation of synaptic Rac>PAK (p-21 activated kinase) signaling is defective in a mouse model of fragile X syndrome. J Neurosci. 2010; 30: 10977-84.
    • (2010) J Neurosci , vol.30 , pp. 10977-10984
    • Chen, L.Y.1    Rex, C.S.2    Babayan, A.H.3    Kramar, E.A.4    Lynch, G.5    Gall, C.M.6
  • 33
    • 24344445896 scopus 로고    scopus 로고
    • Prolonged epileptiform discharges induced by altered group I metabotropic glutamate receptor-mediated synaptic responses in hippocampal slices of a fragile X mouse model
    • Chuang SC, Zhao W, Bauchwitz R, Yan Q, Bianchi R, Wong RK. Prolonged epileptiform discharges induced by altered group I metabotropic glutamate receptor-mediated synaptic responses in hippocampal slices of a fragile X mouse model. J Neurosci. 2005; 25: 8048-55.
    • (2005) J Neurosci , vol.25 , pp. 8048-8055
    • Chuang, S.C.1    Zhao, W.2    Bauchwitz, R.3    Yan, Q.4    Bianchi, R.5    Wong, R.K.6
  • 35
    • 11144293459 scopus 로고    scopus 로고
    • The emerging fragile X premutation phenotype: evidence from the domain of social cognition
    • Cornish K, Kogan C, Turk J, Manly T, James N, Mills A, et al. The emerging fragile X premutation phenotype: evidence from the domain of social cognition. Brain Cogn. 2005; 57: 53-60.
    • (2005) Brain Cogn , vol.57 , pp. 53-60
    • Cornish, K.1    Kogan, C.2    Turk, J.3    Manly, T.4    James, N.5    Mills, A.6
  • 36
    • 0035900649 scopus 로고    scopus 로고
    • Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function
    • Darnell JC, Jensen KB, Jin P, Brown V, Warren ST, Darnell RB. Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function. Cell. 2001; 107: 489-99.
    • (2001) Cell , vol.107 , pp. 489-499
    • Darnell, J.C.1    Jensen, K.B.2    Jin, P.3    Brown, V.4    Warren, S.T.5    Darnell, R.B.6
  • 38
    • 34447621203 scopus 로고    scopus 로고
    • The GABAA receptor: a novel target for treatment of fragile X?
    • D'Hulst C, Kooy RF. The GABAA receptor: a novel target for treatment of fragile X? Trends Neurosci. 2007; 30: 425-31.
    • (2007) Trends Neurosci , vol.30 , pp. 425-431
    • D'Hulst, C.1    Kooy, R.F.2
  • 42
    • 0027176361 scopus 로고
    • The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
    • Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet. 1993; 4: 335-40.
    • (1993) Nat Genet , vol.4 , pp. 335-340
    • Devys, D.1    Lutz, Y.2    Rouyer, N.3    Bellocq, J.P.4    Mandel, J.L.5
  • 43
    • 0037071905 scopus 로고    scopus 로고
    • Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest
    • Dockendorff TC, Su HS, McBride SM, Yang Z, Choi CH, Siwicki KK, et al. Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest. Neuron. 2002; 34: 973-84.
    • (2002) Neuron , vol.34 , pp. 973-984
    • Dockendorff, T.C.1    Su, H.S.2    McBride, S.M.3    Yang, Z.4    Choi, C.H.5    Siwicki, K.K.6
  • 46
    • 77954904485 scopus 로고    scopus 로고
    • A kinesin singnaling complex mediate the ability of GSK-3beta to affect mood-associated behaviors
    • Du J, Wei Y, Liu L, Wang Y, Khairova R, Blumenthal R, et al. A kinesin singnaling complex mediate the ability of GSK-3beta to affect mood-associated behaviors. Proc Natl Acad Sci USA. 2010; 107: 11573-8.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 11573-11578
    • Du, J.1    Wei, Y.2    Liu, L.3    Wang, Y.4    Khairova, R.5    Blumenthal, R.6
  • 51
    • 67349213990 scopus 로고    scopus 로고
    • Brief report: Visual processing of faces in individuals with fragile X syndrome: an eye tracking study
    • Farzin F, Rivera SM, Hessl D. Brief report: Visual processing of faces in individuals with fragile X syndrome: an eye tracking study. J Autism Dev Disord. 2009; 39: 946-52.
    • (2009) J Autism Dev Disord , vol.39 , pp. 946-952
    • Farzin, F.1    Rivera, S.M.2    Hessl, D.3
  • 52
    • 80052365767 scopus 로고    scopus 로고
    • Feasibility, reliability and clinical validity of eye-tracking and pupillometry as an outcome measure for clinical trials in fragile X syndrome (FXS)
    • (in press)
    • Farzin F, Scaggs F, Hervey C, Hessl D, Berry-Kravis E. Feasibility, reliability and clinical validity of eye-tracking and pupillometry as an outcome measure for clinical trials in fragile X syndrome (FXS). J Autism Dev Disord. 2011 (in press).
    • (2011) J Autism Dev Disord.
    • Farzin, F.1    Scaggs, F.2    Hervey, C.3    Hessl, D.4    Berry-Kravis, E.5
  • 53
    • 0031310667 scopus 로고    scopus 로고
    • FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association
    • Feng Y, Absher D, Eberhart DE, Brown V, Malter HE, Warren ST. FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. Mol Cell. 1997; 1: 109-18.
    • (1997) Mol Cell , vol.1 , pp. 109-118
    • Feng, Y.1    Absher, D.2    Eberhart, D.E.3    Brown, V.4    Malter, H.E.5    Warren, S.T.6
  • 55
    • 30744433092 scopus 로고    scopus 로고
    • Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model
    • Gantois I, Vandesompele J, Speleman F, Reyniers E, D'Hooge R, Severijnen LA, et al. Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model. Neurobiol Dis. 2006; 21: 346-57.
    • (2006) Neurobiol Dis , vol.21 , pp. 346-357
    • Gantois, I.1    Vandesompele, J.2    Speleman, F.3    Reyniers, E.4    D'Hooge, R.5    Severijnen, L.A.6
  • 56
    • 53849100522 scopus 로고    scopus 로고
    • Imbalance of neocortical excitation and inhibitionand altered UP states reflect network hyperexcitability in the mouse model of fragile X syndrome
    • Gibson JR, Bartley AF, Hays SA, Huber KM. Imbalance of neocortical excitation and inhibitionand altered UP states reflect network hyperexcitability in the mouse model of fragile X syndrome. J Neurophys. 2008; 100: 2615-26.
    • (2008) J Neurophys , vol.100 , pp. 2615-2626
    • Gibson, J.R.1    Bartley, A.F.2    Hays, S.A.3    Huber, K.M.4
  • 58
    • 77956209418 scopus 로고    scopus 로고
    • Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome
    • Gross C, Nakamoto M, Yao X, Chan C-B, Yim SY, Ye K, et al. Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome. J Neurosci. 2010; 30: 10624-38.
    • (2010) J Neurosci , vol.30 , pp. 10624-10638
    • Gross, C.1    Nakamoto, M.2    Yao, X.3    Chan, C.-B.4    Yim, S.Y.5    Ye, K.6
  • 59
    • 33746196574 scopus 로고    scopus 로고
    • Local protein synthesis and spine morphogenesis: fragile X syndrome and beyond
    • Grossman AW, Aldridge GM, Weiler IJ, Greenough WT. Local protein synthesis and spine morphogenesis: fragile X syndrome and beyond. J Neurosci. 2006; 26: 7151-5.
    • (2006) J Neurosci , vol.26 , pp. 7151-7155
    • Grossman, A.W.1    Aldridge, G.M.2    Weiler, I.J.3    Greenough, W.T.4
  • 60
    • 50049086691 scopus 로고    scopus 로고
    • The fragile X prevalence paradox
    • Hagerman PJ. The fragile X prevalence paradox. J Med Genet. 2008; 45: 498-9.
    • (2008) J Med Genet , vol.45 , pp. 498-499
    • Hagerman, P.J.1
  • 64
    • 66649136789 scopus 로고    scopus 로고
    • Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment
    • Hessl D, Cirdeiro L, Yuhas J, Campball A, Ornitz E, Berry-Kravis E, et al. Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment. Am J Med Genet. 2008a; 153B: 545-53.
    • (2008) Am J Med Genet , vol.153 B , pp. 545-553
    • Hessl, D.1    Cirdeiro, L.2    Yuhas, J.3    Campball, A.4    Ornitz, E.5    Berry-Kravis, E.6
  • 65
    • 37849047416 scopus 로고    scopus 로고
    • Brief report: Aggression and stereotypic behavior in males with fragile X syndrome-moderating secondary genes in a "single gene" disorder
    • Hessl D, Tassone F, Cordiero L, Koldewyn K, McCormick C, Green C, et al. Brief report: Aggression and stereotypic behavior in males with fragile X syndrome-moderating secondary genes in a "single gene" disorder. J Autism Dev Disord. 2008b; 38: 184-9.
    • (2008) J Autism Dev Disord , vol.38 , pp. 184-189
    • Hessl, D.1    Tassone, F.2    Cordiero, L.3    Koldewyn, K.4    McCormick, C.5    Green, C.6
  • 66
    • 80052358161 scopus 로고    scopus 로고
    • Toward a fragile X behavior rating scale: the aberrant behavior checklist collaborative study
    • 21 July 2010, Detroit, Michigan
    • Hessl D, Maltas S, Hall S, Kaufmann W, Lachiewicz A, et al. 2010. Toward a fragile X behavior rating scale: the aberrant behavior checklist collaborative study. 12th International Fragile X Conference, 21 July 2010, Detroit, Michigan.
    • (2010) 12th International Fragile X Conference
    • Hessl, D.1    Maltas, S.2    Hall, S.3    Kaufmann, W.4    Lachiewicz, A.5
  • 67
    • 79955039243 scopus 로고    scopus 로고
    • Fragile X syndrome: from gene discovery to therapy
    • Heulens I, Kooy F. Fragile X syndrome: from gene discovery to therapy. Front Biosci. 2011; 16: 1211-32.
    • (2011) Front Biosci , vol.16 , pp. 1211-1232
    • Heulens, I.1    Kooy, F.2
  • 68
    • 0037188502 scopus 로고    scopus 로고
    • Altered synaptic plasticity in a mouse model of fragile X mental retardation
    • Huber KM, Gallagher SM, Warren ST, Bear MF. Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc Natl Acad Sci USA. 2002; 99: 7746-50.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 7746-7750
    • Huber, K.M.1    Gallagher, S.M.2    Warren, S.T.3    Bear, M.F.4
  • 69
    • 0035863624 scopus 로고    scopus 로고
    • Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination
    • Irwin SA, Patel B, Idupulapati M, Harris JB, Crisostomo RA, Larsen BP, et al. Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. Am J Med Genet A. 2001; 98: 161-7.
    • (2001) Am J Med Genet A , vol.98 , pp. 161-167
    • Irwin, S.A.1    Patel, B.2    Idupulapati, M.3    Harris, J.B.4    Crisostomo, R.A.5    Larsen, B.P.6
  • 70
    • 0037158482 scopus 로고    scopus 로고
    • Dendritic spine and dendritic field characteristics of later V pyramidal neurons in the visual cortex of fragile X-knockout mice
    • Irwin SA, Idupulapati M, Gilbert ME, Harris JB, Chakravarti AB, Rogers EJ, et al. Dendritic spine and dendritic field characteristics of later V pyramidal neurons in the visual cortex of fragile X-knockout mice. Am J Med Genet. 2002; 111: 140-6.
    • (2002) Am J Med Genet , vol.111 , pp. 140-146
    • Irwin, S.A.1    Idupulapati, M.2    Gilbert, M.E.3    Harris, J.B.4    Chakravarti, A.B.5    Rogers, E.J.6
  • 71
    • 78650937072 scopus 로고    scopus 로고
    • Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
    • Jacquemont S, Curie A, des Portes V, Berry-Kravis E, Hagerman RJ, Ramos F, et al. Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med. 2011; 3: 64ra1.
    • (2011) Sci Transl Med , vol.3
    • Jacquemont, S.1    Curie, A.2    Des Portes, V.3    Berry-Kravis, E.4    Hagerman, R.J.5    Ramos, F.6
  • 72
    • 67650473167 scopus 로고    scopus 로고
    • Positive AMPA receptor modulating rapidly stimulates BDNF release and increases dendritic mRNA translation
    • Jourdi H, Hsu YT, Zhou M, Qin Q, Bi X, Baudry M. Positive AMPA receptor modulating rapidly stimulates BDNF release and increases dendritic mRNA translation. J Neurosci. 2009; 29(8): 8688-97.
    • (2009) J Neurosci , vol.29 , Issue.8 , pp. 8688-8697
    • Jourdi, H.1    Hsu, Y.T.2    Zhou, M.3    Qin, Q.4    Bi, X.5    Baudry, M.6
  • 74
    • 80052354927 scopus 로고    scopus 로고
    • Feasibility and reproducibility of the Tests of Attentional Performance for Children (KiTAP) in fragile X syndrome (FXS)
    • Knox A, Berry-Kravis E. Feasibility and reproducibility of the Tests of Attentional Performance for Children (KiTAP) in fragile X syndrome (FXS). Ann Neurol. 2009; 66: S108.
    • (2009) Ann Neurol , vol.66
    • Knox, A.1    Berry-Kravis, E.2
  • 75
    • 23044503253 scopus 로고    scopus 로고
    • Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines and attenuates cerebellar eyelid conditioning in fragile X syndrome
    • Koekkoek SK, Yamaguchi K, Milojkovic BA, Dortland BR, Ruigrok TJ, Maex R, et al. Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines and attenuates cerebellar eyelid conditioning in fragile X syndrome. Neuron. 2005; 47: 339-52.
    • (2005) Neuron , vol.47 , pp. 339-352
    • Koekkoek, S.K.1    Yamaguchi, K.2    Milojkovic, B.A.3    Dortland, B.R.4    Ruigrok, T.J.5    Maex, R.6
  • 76
    • 69549121748 scopus 로고    scopus 로고
    • Role of the metabotropic glutamate receptor subtype 1 in the Harmaline-induced tremor in rats
    • Kolasiewicz W, Kuter K, Wardas J, Ossowska K. Role of the metabotropic glutamate receptor subtype 1 in the Harmaline-induced tremor in rats. J Neural Transm. 2009; 116: 1059-63.
    • (2009) J Neural Transm , vol.116 , pp. 1059-1063
    • Kolasiewicz, W.1    Kuter, K.2    Wardas, J.3    Ossowska, K.4
  • 77
    • 84875341444 scopus 로고    scopus 로고
    • A receptor as a potential target for therapy of the fragile X syndrome
    • 22 July 2010, Detroit, Michigan
    • A receptor as a potential target for therapy of the fragile X syndrome. The 12th International Fragile X Conference, 22 July 2010, Detroit, Michigan.
    • (2010) The 12th International Fragile X Conference
    • Kooy, F.1
  • 78
    • 26844565093 scopus 로고    scopus 로고
    • Age-dependent and selective impairment of long-term potentiation in the anterior piriform cortex of mice lacking the fragile X mental retardation protein
    • Larson J, Jessen RE, Kim D, Fine AK, du Hoffman J. Age-dependent and selective impairment of long-term potentiation in the anterior piriform cortex of mice lacking the fragile X mental retardation protein. J Neurosci. 2005; 25: 9460-9.
    • (2005) J Neurosci , vol.25 , pp. 9460-9469
    • Larson, J.1    Jessen, R.E.2    Kim, D.3    Fine, A.K.4    du Hoffman, J.5
  • 79
    • 44649180546 scopus 로고    scopus 로고
    • Olfactory discrimination learning in mice lacking the fragile X mental retardation protein
    • Larson J, Kim D, Patel RC, Floreani C. Olfactory discrimination learning in mice lacking the fragile X mental retardation protein. Neurobiol Learn Mem. 2008; 90: 90-102.
    • (2008) Neurobiol Learn Mem , vol.90 , pp. 90-102
    • Larson, J.1    Kim, D.2    Patel, R.C.3    Floreani, C.4
  • 80
    • 35148838569 scopus 로고    scopus 로고
    • Brain-derived neurotrophic factor rescues synaptic plasticity in a mouse model of fragile X syndrome
    • Lauterborn JC, Rex CS, Kramar E, Chen LY, Pandyarajan V, Lynch G, et al. Brain-derived neurotrophic factor rescues synaptic plasticity in a mouse model of fragile X syndrome. J Neurosci. 2007; 27(40): 10685-94.
    • (2007) J Neurosci , vol.27 , Issue.40 , pp. 10685-10694
    • Lauterborn, J.C.1    Rex, C.S.2    Kramar, E.3    Chen, L.Y.4    Pandyarajan, V.5    Lynch, G.6
  • 81
    • 0345308602 scopus 로고    scopus 로고
    • Control of dendritic development by the Drosophila fragile X-related gene involves the small GTPase Rac1
    • Lee A, Li W, Xu K, Bogert BA, Su K, Gao FB. Control of dendritic development by the Drosophila fragile X-related gene involves the small GTPase Rac1. Development. 2003; 130: 5543-52.
    • (2003) Development , vol.130 , pp. 5543-5552
    • Lee, A.1    Li, W.2    Xu, K.3    Bogert, B.A.4    Su, K.5    Gao, F.B.6
  • 83
    • 0036198673 scopus 로고    scopus 로고
    • Reduced cortical synaptic plasticity and GluR1 expression associated with fragile X mental retardation protein deficiency
    • Li J, Pelletier MR, Perez Velazquez JL, Carlen PL. Reduced cortical synaptic plasticity and GluR1 expression associated with fragile X mental retardation protein deficiency. Mol Cell Neurosci. 2002; 19: 138-51.
    • (2002) Mol Cell Neurosci , vol.19 , pp. 138-151
    • Li, J.1    Pelletier, M.R.2    Perez Velazquez, J.L.3    Carlen, P.L.4
  • 84
    • 79956013568 scopus 로고    scopus 로고
    • Lithium ameliorates phenotypic deficits in a mouse model of fragile X syndrome
    • Liu ZH, Chuang DM, Smith CB. Lithium ameliorates phenotypic deficits in a mouse model of fragile X syndrome. Neuropsychopharmacology. 2010; 25: 1-13.
    • (2010) Neuropsychopharmacology , vol.25 , pp. 1-13
    • Liu, Z.H.1    Chuang, D.M.2    Smith, C.B.3
  • 85
    • 0036927063 scopus 로고    scopus 로고
    • Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile X males and females assessed by robust pedigree analysis
    • Loesch DZ, Huggins RM, Bui QM, Epstein JL, Taylor AK, Hagerman RJ. Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile X males and females assessed by robust pedigree analysis. J Dev Behav Pediatr. 2002; 23: 416-23.
    • (2002) J Dev Behav Pediatr , vol.23 , pp. 416-423
    • Loesch, D.Z.1    Huggins, R.M.2    Bui, Q.M.3    Epstein, J.L.4    Taylor, A.K.5    Hagerman, R.J.6
  • 89
    • 20044388322 scopus 로고    scopus 로고
    • Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a model of fragile X syndrome
    • McBride SM, Choi CH, Wang Y, Liebelt D, Braunstein E, Ferreiro D, et al. Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a model of fragile X syndrome. Neuron. 2005; 45: 753-64.
    • (2005) Neuron , vol.45 , pp. 753-764
    • McBride, S.M.1    Choi, C.H.2    Wang, Y.3    Liebelt, D.4    Braunstein, E.5    Ferreiro, D.6
  • 90
    • 34249915497 scopus 로고    scopus 로고
    • Suppression of LTP-like plasticity in human motor cortex by the GABAB receptor agonist baclofen
    • McDonnell MN, Orekhov Y, Ziemann U. Suppression of LTP-like plasticity in human motor cortex by the GABAB receptor agonist baclofen. Exp Brain Res. 2007; 180: 181-6.
    • (2007) Exp Brain Res , vol.180 , pp. 181-186
    • McDonnell, M.N.1    Orekhov, Y.2    Ziemann, U.3
  • 91
    • 0033515516 scopus 로고    scopus 로고
    • Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report
    • Miller LJ, McIntosh DN, McGrath J, Shyu V, Lampe M, Taylor AK, et al. Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report. Am J Med Genet. 1999; 83: 268-79.
    • (1999) Am J Med Genet , vol.83 , pp. 268-279
    • Miller, L.J.1    McIntosh, D.N.2    McGrath, J.3    Shyu, V.4    Lampe, M.5    Taylor, A.K.6
  • 92
    • 58849126410 scopus 로고    scopus 로고
    • Elevated glycogen synthase kinase-3 activity in fragile X mice: key metabolic regulator with evidence for treatment potential
    • Min WW, Yuskaitis CJ, Yan Q, Sikorski C, Chen S, Jope RS, et al. Elevated glycogen synthase kinase-3 activity in fragile X mice: key metabolic regulator with evidence for treatment potential. Neuropharmacology. 2009; 56: 463-72.
    • (2009) Neuropharmacology , vol.56 , pp. 463-472
    • Min, W.W.1    Yuskaitis, C.J.2    Yan, Q.3    Sikorski, C.4    Chen, S.5    Jope, R.S.6
  • 93
    • 77956650465 scopus 로고    scopus 로고
    • GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism
    • Mines MA, Yuskaitis CJ, Beurak E, Jope RS. GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism. PLoS ONE. 2010; 5: e9706.
    • (2010) PLoS ONE , vol.5
    • Mines, M.A.1    Yuskaitis, C.J.2    Beurak, E.3    Jope, R.S.4
  • 94
    • 0037421721 scopus 로고    scopus 로고
    • RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice
    • Miyashiro KY, Beckel-Mitchener A, Purk TP, Becker KG, Barret T, Liu L, et al. RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice. Neuron. 2003; 37: 417-31.
    • (2003) Neuron , vol.37 , pp. 417-431
    • Miyashiro, K.Y.1    Beckel-Mitchener, A.2    Purk, T.P.3    Becker, K.G.4    Barret, T.5    Liu, L.6
  • 95
    • 0037071888 scopus 로고    scopus 로고
    • Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain
    • Morales J, Hiesinger PR, Schroeder AJ, Kume K, Verstreken P, Jackson FR, et al. Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron. 2002; 34: 961-72.
    • (2002) Neuron , vol.34 , pp. 961-972
    • Morales, J.1    Hiesinger, P.R.2    Schroeder, A.J.3    Kume, K.4    Verstreken, P.5    Jackson, F.R.6
  • 96
    • 62649146021 scopus 로고    scopus 로고
    • A boost in microRNAs shapes up the synapse
    • Muddashetty R, Bassell GJ. A boost in microRNAs shapes up the synapse. EMBO J. 2009; 28: 617-8.
    • (2009) EMBO J , vol.28 , pp. 617-618
    • Muddashetty, R.1    Bassell, G.J.2
  • 97
    • 34249064936 scopus 로고    scopus 로고
    • Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome
    • Muddashetty RS, Kelic S, Gross C, Xu M, Bassell GJ. Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome. J Neurosci. 2007; 16(27): 5338-48.
    • (2007) J Neurosci , vol.16 , Issue.27 , pp. 5338-5348
    • Muddashetty, R.S.1    Kelic, S.2    Gross, C.3    Xu, M.4    Bassell, G.J.5
  • 98
    • 80052374891 scopus 로고    scopus 로고
    • Reversible inhibition of PSD-95 mRNA translation by miR-125a
    • Program No. 548. 2. 2010 Neuroscience Meeting Planner. San Diego, CA: Society for Neuroscience, (online)
    • Muddashetty RS, Nalavadi VC, Gross C, Yao X, Warren ST, Bassell GJ. Reversible inhibition of PSD-95 mRNA translation by miR-125a, FMRP phosphorylation and mGluR signaling. Program No. 548. 2. 2010 Neuroscience Meeting Planner. San Diego, CA: Society for Neuroscience, 2010 (online).
    • (2010) FMRP phosphorylation and mGluR signaling
    • Muddashetty, R.S.1    Nalavadi, V.C.2    Gross, C.3    Yao, X.4    Warren, S.T.5    Bassell, G.J.6
  • 99
    • 34848890329 scopus 로고    scopus 로고
    • Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors
    • Nakamoto M, Nalavadi V, Epstein MP, Narayanan U, Bassell GJ, Warren ST. Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors. Proc Natl Acad Sci USA. 2007; 104: 15537-42.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 15537-15542
    • Nakamoto, M.1    Nalavadi, V.2    Epstein, M.P.3    Narayanan, U.4    Bassell, G.J.5    Warren, S.T.6
  • 100
    • 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, Nalavadi V, Nakamoto M, Thomas G, Ceman S, Bassell GJ, 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. 2008; 283: 18478-82.
    • (2008) J Biol Chem , vol.283 , pp. 18478-18482
    • Narayanan, U.1    Nalavadi, V.2    Nakamoto, M.3    Thomas, G.4    Ceman, S.5    Bassell, G.J.6
  • 101
    • 80052372623 scopus 로고    scopus 로고
    • New models of FXS in the mouse to assess developmental effects of FMR1 Mutation
    • 23 July 2010, Detroit, Michigan
    • Nelson D. 2010. New models of FXS in the mouse to assess developmental effects of FMR1 Mutation. 12th International Fragile X Conference, 23 July 2010, Detroit, Michigan.
    • (2010) 12th International Fragile X Conference
    • Nelson, D.1
  • 103
    • 0035879180 scopus 로고    scopus 로고
    • Abnormal development of dendritic spines in FMR1 knock-out mice
    • Nimchinsky EA, Oberlander AM, Svoboda K. Abnormal development of dendritic spines in FMR1 knock-out mice. J Neurosci. 2001; 21: 5139-46.
    • (2001) J Neurosci , vol.21 , pp. 5139-5146
    • Nimchinsky, E.A.1    Oberlander, A.M.2    Svoboda, K.3
  • 104
    • 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 EK, Krueger DD, Reinhold K, Bear MF. Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome. J Neurosci. 2010; 30: 15616-27.
    • (2010) J Neurosci , vol.30 , pp. 15616-15627
    • Osterweil, E.K.1    Krueger, D.D.2    Reinhold, K.3    Bear, M.F.4
  • 105
    • 0042661212 scopus 로고    scopus 로고
    • Inhibition of glycogen synthase kinase 3beta in sensory neurons in culture alters filopodia dynamics and microtubule distribution in growth cones
    • Owen R, Gordon-Weeks PR. Inhibition of glycogen synthase kinase 3beta in sensory neurons in culture alters filopodia dynamics and microtubule distribution in growth cones. Mol Cell Neurosci. 2003; 23: 626-37.
    • (2003) Mol Cell Neurosci , vol.23 , pp. 626-637
    • Owen, R.1    Gordon-Weeks, P.R.2
  • 106
    • 67649834454 scopus 로고    scopus 로고
    • Increased GABA(B) receptor-mediated signaling reduces the susceptibility of fragile X knockout mice to audiogenic seizures
    • Pacey LK, Heximer SP, Hampson DR. Increased GABA(B) receptor-mediated signaling reduces the susceptibility of fragile X knockout mice to audiogenic seizures. Mol Pharmacol. 2009; 76: 18-24.
    • (2009) Mol Pharmacol , vol.76 , pp. 18-24
    • Pacey, L.K.1    Heximer, S.P.2    Hampson, D.R.3
  • 108
    • 46149087988 scopus 로고    scopus 로고
    • Elongation factor 2 and fragile X mental retardation protein control the dynamic translation of Arc/Arg3.1 essential for mGluR-LTD
    • Park S, Park JM, Kim S, Kim JA, Shepard JD, Smith-Hicks CL, et al. Elongation factor 2 and fragile X mental retardation protein control the dynamic translation of Arc/Arg3. 1 essential for mGluR-LTD. Neuron. 2008; 59: 70-83.
    • (2008) Neuron , vol.59 , pp. 70-83
    • Park, S.1    Park, J.M.2    Kim, S.3    Kim, J.A.4    Shepard, J.D.5    Smith-Hicks, C.L.6
  • 109
    • 80052370272 scopus 로고    scopus 로고
    • Pharmacological modification of behavioral responses in the fragile X mouse model
    • 25 July 2008, St. Louis, Missouri
    • Paylor R. 2008. Pharmacological modification of behavioral responses in the fragile X mouse model. 11th International Fragile X Conference, 25 July 2008, St. Louis, Missouri.
    • (2008) 11th International Fragile X Conference
    • Paylor, R.1
  • 110
    • 57049188895 scopus 로고    scopus 로고
    • Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human Fmr1 transgene
    • Paylor R, Yuva-Paylor LA, Nelson DL, Spenser CM. Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human Fmr1 transgene. Behav Neurosci. 2008; 122: 1371-7.
    • (2008) Behav Neurosci , vol.122 , pp. 1371-1377
    • Paylor, R.1    Yuva-Paylor, L.A.2    Nelson, D.L.3    Spenser, C.M.4
  • 111
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010; 466: 368-72.
    • (2010) Nature , vol.466 , pp. 368-372
    • Pinto, D.1    Pagnamenta, A.T.2    Klei, L.3    Anney, R.4    Merico, D.5    Regan, R.6
  • 112
    • 19044372933 scopus 로고    scopus 로고
    • Postadolescent changes in regional cerebral protein synthesis: an in vivo study in the FMR1 null mouse
    • Qin M, Kang J, Burlin TV, Jiang C, Smith CB. Postadolescent changes in regional cerebral protein synthesis: an in vivo study in the FMR1 null mouse. J Neurosci. 2005; 25: 5087-95.
    • (2005) J Neurosci , vol.25 , pp. 5087-5095
    • Qin, M.1    Kang, J.2    Burlin, T.V.3    Jiang, C.4    Smith, C.B.5
  • 114
    • 77955393170 scopus 로고    scopus 로고
    • Fragile x mental retardation protein is required for rapid experience-dependent regulation of the potassium channel Kv3.1b
    • Shumbos JG, Brown M, Kronengold J, Polley DB, Kaczmerak LK. Fragile x mental retardation protein is required for rapid experience-dependent regulation of the potassium channel Kv3. 1b. J Neurosci. 2010; 30: 10263-71.
    • (2010) J Neurosci , vol.30 , pp. 10263-10271
    • Shumbos, J.G.1    Brown, M.2    Kronengold, J.3    Polley, D.B.4    Kaczmerak, L.K.5
  • 115
    • 34147207042 scopus 로고    scopus 로고
    • + currents by muscarinic and metabotropic glutamate receptors in immature rat hippocampus
    • + currents by muscarinic and metabotropic glutamate receptors in immature rat hippocampus. J Physiol. 2007; 580: 411-22.
    • (2007) J Physiol , vol.580 , pp. 411-422
    • Sohn, J.W.1    Lee, D.2    Cho, H.3    Lim, W.4    Hin, H.S.5    Lee, S.H.6
  • 118
    • 77954858360 scopus 로고    scopus 로고
    • Characterization and reversal of synaptic defects in the amygdale in a mouse model of fragile X syndrome
    • Subrathan A, Hoeffer CA, Wong H, Klann E, Chattarji S. Characterization and reversal of synaptic defects in the amygdale in a mouse model of fragile X syndrome. Proc Natl Acad Sci USA. 2010; 107: 11591-6.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 11591-11596
    • Subrathan, A.1    Hoeffer, C.A.2    Wong, H.3    Klann, E.4    Chattarji, S.5
  • 120
    • 33845336882 scopus 로고    scopus 로고
    • Behavioral equivalents of anxiety in children with fragile X syndrome: parent and teacher report
    • Sullivan K, Hooper S, Hatton D. Behavioral equivalents of anxiety in children with fragile X syndrome: parent and teacher report. J Intellect Disabil Res. 2007; 51: 54-65.
    • (2007) J Intellect Disabil Res , vol.51 , pp. 54-65
    • Sullivan, K.1    Hooper, S.2    Hatton, D.3
  • 124
    • 77958192422 scopus 로고    scopus 로고
    • Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures
    • Utari A, Chonchaiya W, Rivera SM, Schneider A, Hagerman RJ, Faradz SM, et al. Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures. Am J Intellect Dev Disabil. 2010; 115(5): 433-43.
    • (2010) Am J Intellect Dev Disabil , vol.115 , Issue.5 , pp. 433-443
    • Utari, A.1    Chonchaiya, W.2    Rivera, S.M.3    Schneider, A.4    Hagerman, R.J.5    Faradz, S.M.6
  • 126
    • 4544383988 scopus 로고    scopus 로고
    • Object recognition impairment in Fmr1 knockout mice is reversed by amphetamine: involvement of dopamine in the medial prefrontal cortex
    • Ventura R, Pascucci T, Catania MV, Musumeci SA, Puglisi-Allegra S. Object recognition impairment in Fmr1 knockout mice is reversed by amphetamine: involvement of dopamine in the medial prefrontal cortex. Behav Pharmacol. 2004; 15: 433-42.
    • (2004) Behav Pharmacol , vol.15 , pp. 433-442
    • Ventura, R.1    Pascucci, T.2    Catania, M.V.3    Musumeci, S.A.4    Puglisi-Allegra, S.5
  • 127
    • 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 AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991; 65: 905-14.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5    Pizzuti, A.6
  • 128
    • 35548930804 scopus 로고    scopus 로고
    • Multiple Gq-coupled receptors converge on a common protein synthesis-dependent long-term depression that is affected in fragile X syndrome mental retardation
    • Volk LJ, Pfeiffer BE, Gibson JR, Huber KM. Multiple Gq-coupled receptors converge on a common protein synthesis-dependent long-term depression that is affected in fragile X syndrome mental retardation. J Neurosci. 2007; 27: 11624-34.
    • (2007) J Neurosci , vol.27 , pp. 11624-11634
    • Volk, L.J.1    Pfeiffer, B.E.2    Gibson, J.R.3    Huber, K.M.4
  • 129
    • 43749093221 scopus 로고    scopus 로고
    • Roles of calcium-stimulated adenylyl cyclase and calmodulin-depebdent protein kinase IV in the regulation of FMRP by group I metabotropic glutamate receptors
    • Wang H, Wu LJ, Zhang F, Zhou M. Roles of calcium-stimulated adenylyl cyclase and calmodulin-depebdent protein kinase IV in the regulation of FMRP by group I metabotropic glutamate receptors. JNeurosci. 2008a; 28: 4385-97.
    • (2008) JNeurosci , vol.28 , pp. 4385-4397
    • Wang, H.1    Wu, L.J.2    Zhang, F.3    Zhou, M.4
  • 130
    • 49849098290 scopus 로고    scopus 로고
    • FMRP acts as a key messenger for dopamine modulation in the forebrain
    • Wang H, Wu LJ, Kim SS, Lee FJ, Gong B, Toyoda H. FMRP acts as a key messenger for dopamine modulation in the forebrain. Neuron. 2008b; 59: 634-47.
    • (2008) Neuron , vol.59 , pp. 634-647
    • Wang, H.1    Wu, L.J.2    Kim, S.S.3    Lee, F.J.4    Gong, B.5    Toyoda, H.6
  • 131
    • 77954915376 scopus 로고    scopus 로고
    • Fragile X: leading the way for targeted treatments in autism
    • Wang LW, Berry-Kravis E, Hagerman RJ. Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics. 2010a; 7: 264-74.
    • (2010) Neurotherapeutics , vol.7 , pp. 264-274
    • Wang, L.W.1    Berry-Kravis, E.2    Hagerman, R.J.3
  • 132
    • 77954368724 scopus 로고    scopus 로고
    • Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent α-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization
    • Wang H, Kim SS, Zhuo M. Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent α-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization. J Biol Chem. 2010b; 285: 21888-901.
    • (2010) J Biol Chem , vol.285 , pp. 21888-21901
    • Wang, H.1    Kim, S.S.2    Zhuo, M.3
  • 133
    • 80052350087 scopus 로고    scopus 로고
    • Arbaclofen treatment is associated with global behavioral improvement in fragile X syndrome (FXS): results of a randomized, controlled phase 2 trial
    • Sept 12, 2010, Boston, Massachusetts
    • Wang L, Hagerman R, Rathmell B, Wang P, Berry-Kravis E. 2010c. Arbaclofen treatment is associated with global behavioral improvement in fragile X syndrome (FXS): results of a randomized, controlled phase 2 trial. 2010 Annual Meeting of the Society for Developmental and Behavioral Pediatrics, Sept 12, 2010, Boston, Massachusetts.
    • (2010) 2010 Annual Meeting of the Society for Developmental and Behavioral Pediatrics
    • Wang, L.1    Hagerman, R.2    Rathmell, B.3    Wang, P.4    Berry-Kravis, E.5
  • 134
    • 68649093278 scopus 로고    scopus 로고
    • Protein translation in synaptic plasticity: mGluR-LTD, fragile X
    • Waung MW, Huber KM. Protein translation in synaptic plasticity: mGluR-LTD, fragile X. Curr Opin Neurobiol. 2009; 19: 319-26.
    • (2009) Curr Opin Neurobiol , vol.19 , pp. 319-326
    • Waung, M.W.1    Huber, K.M.2
  • 137
    • 55349098271 scopus 로고    scopus 로고
    • Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome
    • Weng N, Weiler IJ, Sumis A, Berry-Kravis E, Greenough WT. Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome. Am J Med Genet. 2008; 147B: 1253-7.
    • (2008) Am J Med Genet , vol.147 B , pp. 1253-1257
    • Weng, N.1    Weiler, I.J.2    Sumis, A.3    Berry-Kravis, E.4    Greenough, W.T.5
  • 138
    • 33947195786 scopus 로고    scopus 로고
    • FMRP mediates mgluR5-dependent translation of amyloid precursor protein
    • Westmark CJ, Malter JS. FMRP mediates mgluR5-dependent translation of amyloid precursor protein. PLoS Biol. 2007; 5: e52.
    • (2007) PLoS Biol , vol.5
    • Westmark, C.J.1    Malter, J.S.2
  • 141
    • 24344457816 scopus 로고    scopus 로고
    • Suppression of two major fragile X syndrome mouse model phenotypes by the mGluR5 antagonist MPEP
    • Yan QJ, Rammal M, Tranfaglia M, Bauchwitz RP. Suppression of two major fragile X syndrome mouse model phenotypes by the mGluR5 antagonist MPEP. Neuropharmacology. 2005; 49: 1053-66.
    • (2005) Neuropharmacology , vol.49 , pp. 1053-1066
    • Yan, Q.J.1    Rammal, M.2    Tranfaglia, M.3    Bauchwitz, R.P.4
  • 142
    • 71549145629 scopus 로고    scopus 로고
    • Lithium ameliorates altered glycogen synthase kinase-3 and behavior in a mouse model of fragile X syndrome
    • Yuskaitis CJ, Mines MA, King MK, Sweatt JD, Miller CA, Jope RS. Lithium ameliorates altered glycogen synthase kinase-3 and behavior in a mouse model of fragile X syndrome. Biochem Pharmacol. 2010; 79: 632-46.
    • (2010) Biochem Pharmacol , vol.79 , pp. 632-646
    • Yuskaitis, C.J.1    Mines, M.A.2    King, M.K.3    Sweatt, J.D.4    Miller, C.A.5    Jope, R.S.6
  • 143
    • 0037423293 scopus 로고    scopus 로고
    • The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses
    • Zalfa F, Giorgi M, Primerano B, Moro A, Di Penta A, Reis S, et al. The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses. Cell. 2003; 112: 317-27.
    • (2003) Cell , vol.112 , pp. 317-327
    • Zalfa, F.1    Giorgi, M.2    Primerano, B.3    Moro, A.4    Di Penta, A.5    Reis, S.6
  • 144
    • 77951528668 scopus 로고    scopus 로고
    • Enhanced endocannabinoid signaling elevates neuronal excitability in fragile X syndrome
    • Zhang L, Alger BE. Enhanced endocannabinoid signaling elevates neuronal excitability in fragile X syndrome. J Neurosci. 2010; 30: 5724-9.
    • (2010) J Neurosci , vol.30 , pp. 5724-5729
    • Zhang, L.1    Alger, B.E.2
  • 145
    • 0035977134 scopus 로고    scopus 로고
    • Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function
    • Zhang YQ, Bailey AM, Matthies HJ, Renden RB, Smith MA, Speese SD, et al. Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function. Cell. 2001; 107: 591-603.
    • (2001) Cell , vol.107 , pp. 591-603
    • Zhang, Y.Q.1    Bailey, A.M.2    Matthies, H.J.3    Renden, R.B.4    Smith, M.A.5    Speese, S.D.6
  • 146
    • 54849419578 scopus 로고    scopus 로고
    • The tyrosine phosphatase STEP mediates AMPA receptor endocytosis after metabotropic glutamate receptor stimulation
    • Zhang Y, Venkitaramani DV, Gladding CM, Zhang Y, Kurup P, Molnar E, et al. The tyrosine phosphatase STEP mediates AMPA receptor endocytosis after metabotropic glutamate receptor stimulation. J Neurosci. 2008; 28: 10561-6.
    • (2008) J Neurosci , vol.28 , pp. 10561-10566
    • Zhang, Y.1    Venkitaramani, D.V.2    Gladding, C.M.3    Zhang, Y.4    Kurup, P.5    Molnar, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.