메뉴 건너뛰기




Volumn 74, Issue 2, 2014, Pages 123-135

Therapeutic approaches for shankopathies

Author keywords

Autism spectrum disorders; Brain stimulation; Mouse model; SHANK family protein; Synapses

Indexed keywords

GLUTAMIC ACID;

EID: 84891903357     PISSN: 19328451     EISSN: 10974695     Source Type: Journal    
DOI: 10.1002/dneu.22084     Document Type: Article
Times cited : (22)

References (120)
  • 1
    • 33646250640 scopus 로고    scopus 로고
    • Modulation of learning and hippocampal, neuronal plasticity by repetitive transcranial magnetic stimulation (rTMS)
    • Ahmed Z, Wieraszko A. 2006. Modulation of learning and hippocampal, neuronal plasticity by repetitive transcranial magnetic stimulation (rTMS). Bioelectromagnetics 27:288-294.
    • (2006) Bioelectromagnetics , vol.27 , pp. 288-294
    • Ahmed, Z.1    Wieraszko, A.2
  • 2
    • 45449119638 scopus 로고    scopus 로고
    • High- and low-frequency repetitive transcranial magnetic stimulation differentially activates c-Fos and zif268 protein expression in the rat brain
    • Aydin-Abidin S, Trippe J, Funke K, Eysel UT, Benali A. 2008. High- and low-frequency repetitive transcranial magnetic stimulation differentially activates c-Fos and zif268 protein expression in the rat brain. Exp Brain Res 188:249-261.
    • (2008) Exp Brain Res , vol.188 , pp. 249-261
    • Aydin-Abidin, S.1    Trippe, J.2    Funke, K.3    Eysel, U.T.4    Benali, A.5
  • 4
    • 79957543879 scopus 로고    scopus 로고
    • enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism
    • Bangash MA, Park JM, Melnikova T, Wang D, Jeon SK, Lee D, Syeda S, et al. 2011. enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism. Cell 145:758-772.
    • (2011) Cell , vol.145 , pp. 758-772
    • Bangash, M.A.1    Park, J.M.2    Melnikova, T.3    Wang, D.4    Jeon, S.K.5    Lee, D.6    Syeda, S.7
  • 9
    • 79952313620 scopus 로고    scopus 로고
    • Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
    • Betancur C. 2011. Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting. Brain Res 1380:42-77.
    • (2011) Brain Res , vol.1380 , pp. 42-77
    • Betancur, C.1
  • 10
    • 84867736998 scopus 로고    scopus 로고
    • Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, behavioral phenotypes in fragile X syndrome mice
    • Bhattacharya A, Kaphzan H, Alvarez-Dieppa AC, Murphy JP, Pierre P, Klann E. 2012. Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, behavioral phenotypes in fragile X syndrome mice. Neuron 76:325-337.
    • (2012) Neuron , vol.76 , pp. 325-337
    • Bhattacharya, A.1    Kaphzan, H.2    Alvarez-Dieppa, A.C.3    Murphy, J.P.4    Pierre, P.5    Klann, E.6
  • 11
    • 84858996163 scopus 로고    scopus 로고
    • Diagnosis and management of autism in childhood
    • Blenner S, Reddy A, Augustyn M. 2011. Diagnosis and management of autism in childhood. BMJ 343:d6238.
    • (2011) BMJ , vol.343
    • Blenner, S.1    Reddy, A.2    Augustyn, M.3
  • 13
    • 17144466355 scopus 로고    scopus 로고
    • Differential expression and dendritic transcript localization of Shank family members: Identification of a dendritic targeting element in the 3' untranslated region of Shank1 mRNA
    • Bockers TM, Segger-Junius M, Iglauer P, Bockmann J, Gundelfinger ED, Kreutz MR, Richter D, Kindler S, Kreienkamp HJ. 2004. Differential expression and dendritic transcript localization of Shank family members: Identification of a dendritic targeting element in the 3' untranslated region of Shank1 mRNA. Mol Cell Neurosci 26:182-190.
    • (2004) Mol Cell Neurosci , vol.26 , pp. 182-190
    • Bockers, T.M.1    Segger-Junius, M.2    Iglauer, P.3    Bockmann, J.4    Gundelfinger, E.D.5    Kreutz, M.R.6    Richter, D.7    Kindler, S.8    Kreienkamp, H.J.9
  • 14
    • 79960964869 scopus 로고    scopus 로고
    • Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome
    • Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, et al. 2011. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet 7:e1002173.
    • (2011) PLoS Genet , vol.7
    • Bonaglia, M.C.1    Giorda, R.2    Beri, S.3    De Agostini, C.4    Novara, F.5    Fichera, M.6    Grillo, L.7
  • 16
    • 80054889797 scopus 로고    scopus 로고
    • Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
    • Bozdagi O, Sakurai T, Papapetrou D, Wang X, Dickstein DL, Takahashi N, Kajiwara Y, et al. 2010. Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. Mol Autism 1:15.
    • (2010) Mol Autism , vol.1 , pp. 15
    • Bozdagi, O.1    Sakurai, T.2    Papapetrou, D.3    Wang, X.4    Dickstein, D.L.5    Takahashi, N.6    Kajiwara, Y.7
  • 17
    • 84860580549 scopus 로고    scopus 로고
    • Pharmacologic treatment of repetitive behaviors in autism spectrum disorders: Evidence of publication bias
    • Carrasco M, Volkmar FR, Bloch MH. 2012. Pharmacologic treatment of repetitive behaviors in autism spectrum disorders: Evidence of publication bias. Pediatrics 129:e1301-1310.
    • (2012) Pediatrics , vol.129
    • Carrasco, M.1    Volkmar, F.R.2    Bloch, M.H.3
  • 18
    • 20044362416 scopus 로고    scopus 로고
    • Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3
    • Ching TT, Maunakea AK, Jun P, Hong C, Zardo G, Pinkel D, Albertson DG, et al. 2005. Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3. Nat Genet 37:645-651.
    • (2005) Nat Genet , vol.37 , pp. 645-651
    • Ching, T.T.1    Maunakea, A.K.2    Jun, P.3    Hong, C.4    Zardo, G.5    Pinkel, D.6    Albertson, D.G.7
  • 19
    • 83055173238 scopus 로고    scopus 로고
    • Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome
    • Daily JL, Nash K, Jinwal U, Golde T, Rogers J, Peters MM, Burdine RD, et al. 2011. Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome. PLoS One 6:e27221.
    • (2011) PLoS One , vol.6
    • Daily, J.L.1    Nash, K.2    Jinwal, U.3    Golde, T.4    Rogers, J.5    Peters, M.M.6    Burdine, R.D.7
  • 21
    • 74049153754 scopus 로고    scopus 로고
    • Randomized, controlled trial of an intervention for toddlers with autism: The Early Start Denver Model
    • Dawson G, Rogers S, Munson J, Smith M, Winter J, Greenson J, Donaldson A, et al. 2010. Randomized, controlled trial of an intervention for toddlers with autism: The Early Start Denver Model. Pediatrics 125:e17-e23.
    • (2010) Pediatrics , vol.125
    • Dawson, G.1    Rogers, S.2    Munson, J.3    Smith, M.4    Winter, J.5    Greenson, J.6    Donaldson, A.7
  • 22
    • 2942590829 scopus 로고    scopus 로고
    • Young children with autism show atypical brain responses to fearful versus neutral facial expressions of emotion
    • Dawson G, Webb SJ, Carver L, Panagiotides H, McPartland J. 2004. Young children with autism show atypical brain responses to fearful versus neutral facial expressions of emotion. Dev Sci 7:340-359.
    • (2004) Dev Sci , vol.7 , pp. 340-359
    • Dawson, G.1    Webb, S.J.2    Carver, L.3    Panagiotides, H.4    McPartland, J.5
  • 23
    • 84862493260 scopus 로고    scopus 로고
    • Genetic architecture in autism spectrum disorder
    • Devlin B, Scherer SW. 2012. Genetic architecture in autism spectrum disorder. Curr Opin Genet Dev 22:229-237.
    • (2012) Curr Opin Genet Dev , vol.22 , pp. 229-237
    • Devlin, B.1    Scherer, S.W.2
  • 26
    • 33845889998 scopus 로고    scopus 로고
    • Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
    • Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, et al. 2007. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39:25-27.
    • (2007) Nat Genet , vol.39 , pp. 25-27
    • Durand, C.M.1    Betancur, C.2    Boeckers, T.M.3    Bockmann, J.4    Chaste, P.5    Fauchereau, F.6    Nygren, G.7
  • 27
    • 84855341900 scopus 로고    scopus 로고
    • SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism
    • Durand CM, Perroy J, Loll F, Perrais D, Fagni L, Bourgeron T, Montcouquiol M, et al. 2011. SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. Mol Psychiatry 17:71-84.
    • (2011) Mol Psychiatry , vol.17 , pp. 71-84
    • Durand, C.M.1    Perroy, J.2    Loll, F.3    Perrais, D.4    Fagni, L.5    Bourgeron, T.6    Montcouquiol, M.7
  • 28
    • 77955165788 scopus 로고    scopus 로고
    • A preliminary transcranial magnetic stimulation study of cortical inhibition and excitability in high-functioning autism and Asperger disorder
    • Enticott PG, Rinehart NJ, Tonge BJ, Bradshaw JL, Fitzgerald PB. 2010. A preliminary transcranial magnetic stimulation study of cortical inhibition and excitability in high-functioning autism and Asperger disorder. Dev Med Child Neurol 52:e179-183.
    • (2010) Dev Med Child Neurol , vol.52
    • Enticott, P.G.1    Rinehart, N.J.2    Tonge, B.J.3    Bradshaw, J.L.4    Fitzgerald, P.B.5
  • 30
    • 80052798136 scopus 로고    scopus 로고
    • Modulation of cortical inhibition by rTMS-Findings obtained from animal models
    • Funke K, Benali A. 2011. Modulation of cortical inhibition by rTMS-Findings obtained from animal models. J Physiol 589:4423-4435.
    • (2011) J Physiol , vol.589 , pp. 4423-4435
    • Funke, K.1    Benali, A.2
  • 31
    • 84871919786 scopus 로고    scopus 로고
    • Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice
    • Gadalla KK, Bailey ME, Spike RC, Ross PD, Woodard KT, Kalburgi SN, Bachaboina L, et al. 2013. Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice. Mol Ther 21:18-30.
    • (2013) Mol Ther , vol.21 , pp. 18-30
    • Gadalla, K.K.1    Bailey, M.E.2    Spike, R.C.3    Ross, P.D.4    Woodard, K.T.5    Kalburgi, S.N.6    Bachaboina, L.7
  • 34
  • 35
    • 79956302115 scopus 로고    scopus 로고
    • Long-term effects of repetitive transcranial magnetic stimulation on markers for neuroplasticity: Differential outcomes in anesthetized and awake animals
    • Gersner R, Kravetz E, Feil J, Pell G, Zangen A. 2011. Long-term effects of repetitive transcranial magnetic stimulation on markers for neuroplasticity: Differential outcomes in anesthetized and awake animals. J Neurosci 31:7521-7526.
    • (2011) J Neurosci , vol.31 , pp. 7521-7526
    • Gersner, R.1    Kravetz, E.2    Feil, J.3    Pell, G.4    Zangen, A.5
  • 36
    • 54549086639 scopus 로고    scopus 로고
    • Autism: Many genes, common pathways?
    • Geschwind DH. 2008. Autism: Many genes, common pathways? Cell 135:391-395.
    • (2008) Cell , vol.135 , pp. 391-395
    • Geschwind, D.H.1
  • 37
    • 33846921789 scopus 로고    scopus 로고
    • Autism spectrum disorders: Developmental disconnection syndromes
    • Geschwind DH, Levitt P. 2007. Autism spectrum disorders: Developmental disconnection syndromes. Curr Opin Neurobiol 17:103-111.
    • (2007) Curr Opin Neurobiol , vol.17 , pp. 103-111
    • Geschwind, D.H.1    Levitt, P.2
  • 41
    • 78650987060 scopus 로고    scopus 로고
    • AAV vector-mediated overexpression of CB1 cannabinoid receptor in pyramidal neurons of the hippocampus protects against seizure-induced excitoxicity
    • Guggenhuber S, Monory K, Lutz B, Klugmann M. 2010. AAV vector-mediated overexpression of CB1 cannabinoid receptor in pyramidal neurons of the hippocampus protects against seizure-induced excitoxicity. PLoS One 5:e15707.
    • (2010) PLoS One , vol.5
    • Guggenhuber, S.1    Monory, K.2    Lutz, B.3    Klugmann, M.4
  • 43
    • 33847266846 scopus 로고    scopus 로고
    • Reversal of neurological defects in a mouse model of Rett syndrome
    • Guy J, Gan J, Selfridge J, Cobb S, Bird A. 2007. Reversal of neurological defects in a mouse model of Rett syndrome. Science 315:1143-1147.
    • (2007) Science , vol.315 , pp. 1143-1147
    • Guy, J.1    Gan, J.2    Selfridge, J.3    Cobb, S.4    Bird, A.5
  • 44
    • 79952484202 scopus 로고    scopus 로고
    • Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability
    • Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, et al. 2011. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet 88:306-316.
    • (2011) Am J Hum Genet , vol.88 , pp. 306-316
    • Hamdan, F.F.1    Gauthier, J.2    Araki, Y.3    Lin, D.T.4    Yoshizawa, Y.5    Higashi, K.6    Park, A.R.7
  • 45
    • 84866500624 scopus 로고    scopus 로고
    • Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission
    • Han S, Tai C, Westenbroek RE, Yu FH, Cheah CS, Potter GB, Rubenstein JL, et al. 2012. Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. Nature 489:385-390.
    • (2012) Nature , vol.489 , pp. 385-390
    • Han, S.1    Tai, C.2    Westenbroek, R.E.3    Yu, F.H.4    Cheah, C.S.5    Potter, G.B.6    Rubenstein, J.L.7
  • 46
    • 77449145968 scopus 로고    scopus 로고
    • Assessing progress during treatment for young children with autism receiving intensive behavioural interventions
    • Hayward D, Eikeseth S, Gale C, Morgan S. 2009. Assessing progress during treatment for young children with autism receiving intensive behavioural interventions. Autism 13:613-633.
    • (2009) Autism , vol.13 , pp. 613-633
    • Hayward, D.1    Eikeseth, S.2    Gale, C.3    Morgan, S.4
  • 47
    • 84866615813 scopus 로고    scopus 로고
    • Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABAB Receptors with Arbaclofen
    • Henderson C, Wijetunge L, Kinoshita MN, Shumway M, Hammond RS, Postma FR, Brynczka C, et al. 2012. Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABAB Receptors with Arbaclofen. Sci Transl Med 4:152ra128.
    • (2012) Sci Transl Med , vol.4 , pp. 152-128
    • Henderson, C.1    Wijetunge, L.2    Kinoshita, M.N.3    Shumway, M.4    Hammond, R.S.5    Postma, F.R.6    Brynczka, C.7
  • 48
    • 77956677452 scopus 로고    scopus 로고
    • Physiology of repetitive transcranial magnetic stimulation of the human brain
    • Hoogendam JM, Ramakers GM, Di Lazzaro V. 2010. Physiology of repetitive transcranial magnetic stimulation of the human brain. Brain Stimul 3:95-118.
    • (2010) Brain Stimul , vol.3 , pp. 95-118
    • Hoogendam, J.M.1    Ramakers, G.M.2    Di Lazzaro, V.3
  • 49
    • 42649115110 scopus 로고    scopus 로고
    • The effects of low- and high-frequency repetitive TMS on the input/output properties of the human corticospinal pathway
    • Houdayer E, Degardin A, Cassim F, Bocquillon P, Derambure P, Devanne H. 2008. The effects of low- and high-frequency repetitive TMS on the input/output properties of the human corticospinal pathway. Exp Brain Res 187:207-217.
    • (2008) Exp Brain Res , vol.187 , pp. 207-217
    • Houdayer, E.1    Degardin, A.2    Cassim, F.3    Bocquillon, P.4    Derambure, P.5    Devanne, H.6
  • 52
    • 78651456267 scopus 로고    scopus 로고
    • Management of symptoms in children with autism spectrum disorders: A comprehensive review of pharmacologic and complementary-alternative medicine treatments
    • Huffman LC, Sutcliffe TL, Tanner IS, Feldman HM. 2011. Management of symptoms in children with autism spectrum disorders: A comprehensive review of pharmacologic and complementary-alternative medicine treatments. J Dev Behav Pediatr 32:56-68.
    • (2011) J Dev Behav Pediatr , vol.32 , pp. 56-68
    • Huffman, L.C.1    Sutcliffe, T.L.2    Tanner, I.S.3    Feldman, H.M.4
  • 53
    • 39549100993 scopus 로고    scopus 로고
    • Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1
    • Hung AY, Futai K, Sala C, Valtschanoff JG, Ryu J, Woodworth MA, Kidd FL, et al. 2008. Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1. J Neurosci 28:1697-1708.
    • (2008) J Neurosci , vol.28 , pp. 1697-1708
    • Hung, A.Y.1    Futai, K.2    Sala, C.3    Valtschanoff, J.G.4    Ryu, J.5    Woodworth, M.A.6    Kidd, F.L.7
  • 54
    • 78149460672 scopus 로고    scopus 로고
    • Degradation of postsynaptic scaffold GKAP and regulation of dendritic spine morphology by the TRIM3 ubiquitin ligase in rat hippocampal neurons
    • Hung AY, Sung CC, Brito IL, Sheng M. 2010. Degradation of postsynaptic scaffold GKAP and regulation of dendritic spine morphology by the TRIM3 ubiquitin ligase in rat hippocampal neurons. PLoS One 5:e9842.
    • (2010) PLoS One , vol.5
    • Hung, A.Y.1    Sung, C.C.2    Brito, I.L.3    Sheng, M.4
  • 55
    • 79952177823 scopus 로고    scopus 로고
    • Repetitive transcranial magnetic stimulation (rTMS): A noninvasive neuromodulation probe and intervention
    • Husain MM, Lisanby SH. 2011. Repetitive transcranial magnetic stimulation (rTMS): A noninvasive neuromodulation probe and intervention. J ECT 27:2.
    • (2011) J ECT , vol.27 , pp. 2
    • Husain, M.M.1    Lisanby, S.H.2
  • 56
    • 77949360928 scopus 로고    scopus 로고
    • New directions in behavioral treatment of autism spectrum disorders
    • Kasari C, Lawton K. 2010. New directions in behavioral treatment of autism spectrum disorders. Curr Opin Neurol 23:137-143.
    • (2010) Curr Opin Neurol , vol.23 , pp. 137-143
    • Kasari, C.1    Lawton, K.2
  • 57
    • 54949144402 scopus 로고    scopus 로고
    • The autistic neuron: Troubled translation?
    • Kelleher RJ 3rd, Bear MF. 2008. The autistic neuron: Troubled translation? Cell 135:401-406.
    • (2008) Cell , vol.135 , pp. 401-406
    • Kelleher III, R.J.1    Bear, M.F.2
  • 58
    • 83255185186 scopus 로고    scopus 로고
    • Transgenic complementation of MeCP2 deficiency: Phenotypic rescue of Mecp2-null mice by isoform-specific transgenes
    • Kerr B, Soto CJ Saez, M Abrams A, Walz K, Young JI. 2012. Transgenic complementation of MeCP2 deficiency: Phenotypic rescue of Mecp2-null mice by isoform-specific transgenes. Eur J Hum Genet 20:69-76.
    • (2012) Eur J Hum Genet , vol.20 , pp. 69-76
    • Kerr, B.1    Soto, C.J.2    Saez, M.3    Abrams, A.4    Walz, K.5    Young, J.I.6
  • 59
    • 33746474184 scopus 로고    scopus 로고
    • Repetitive transcranial magnetic stimulation protects hippocampal plasticity in an animal model of depression
    • Kim EJ, Kim WR, Chi SE, Lee KH, Park EH, Chae JH, Park SK, et al. 2006. Repetitive transcranial magnetic stimulation protects hippocampal plasticity in an animal model of depression. Neurosci Lett 405:79-83.
    • (2006) Neurosci Lett , vol.405 , pp. 79-83
    • Kim, E.J.1    Kim, W.R.2    Chi, S.E.3    Lee, K.H.4    Park, E.H.5    Chae, J.H.6    Park, S.K.7
  • 60
    • 49049083720 scopus 로고    scopus 로고
    • Scaffolding proteins at the postsynaptic density: Shank as the architectural framework
    • Kreienkamp HJ. 2008. Scaffolding proteins at the postsynaptic density: Shank as the architectural framework. Handb Exp Pharmacol, 365-380.
    • (2008) Handb Exp Pharmacol , pp. 365-380
    • Kreienkamp, H.J.1
  • 61
    • 79551594543 scopus 로고    scopus 로고
    • Toward fulfilling the promise of molecular medicine in fragile X syndrome
    • Krueger DD, Bear MF. 2011. Toward fulfilling the promise of molecular medicine in fragile X syndrome. Annu Rev Med 62:411-429.
    • (2011) Annu Rev Med , vol.62 , pp. 411-429
    • Krueger, D.D.1    Bear, M.F.2
  • 62
    • 80053617549 scopus 로고    scopus 로고
    • Autism: A "critical period" disorder?
    • LeBlanc JJ, Fagiolini M. 2011. Autism: A "critical period" disorder? Neural Plast 2011:921680.
    • (2011) Neural Plast , vol.2011 , pp. 921680
    • LeBlanc, J.J.1    Fagiolini, M.2
  • 63
    • 84859066832 scopus 로고    scopus 로고
    • Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
    • Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, et al. 2012. Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders. PLoS Genet 8:e1002521.
    • (2012) PLoS Genet , vol.8
    • Leblond, C.S.1    Heinrich, J.2    Delorme, R.3    Proepper, C.4    Betancur, C.5    Huguet, G.6    Konyukh, M.7
  • 65
    • 0032830935 scopus 로고    scopus 로고
    • Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development
    • Lim S, Naisbitt S, Yoon J, Hwang JI, Suh PG, Sheng M, Kim E. 1999. Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development. J Biol Chem 274:29510-29518.
    • (1999) J Biol Chem , vol.274 , pp. 29510-29518
    • Lim, S.1    Naisbitt, S.2    Yoon, J.3    Hwang, J.I.4    Suh, P.G.5    Sheng, M.6    Kim, E.7
  • 66
    • 64549117853 scopus 로고    scopus 로고
    • The autism spectrum: Definitions, assessment and diagnoses
    • Lord C, Bishop SL. 2009. The autism spectrum: Definitions, assessment and diagnoses. Br J Hosp Med (Lond) 70:132-135.
    • (2009) Br J Hosp Med (Lond) , vol.70 , pp. 132-135
    • Lord, C.1    Bishop, S.L.2
  • 67
    • 84858434210 scopus 로고    scopus 로고
    • CNVs: Harbingers of a rare variant revolution in psychiatric genetics
    • Malhotra D, Sebat J. 2012. CNVs: Harbingers of a rare variant revolution in psychiatric genetics. Cell 148:1223-1241.
    • (2012) Cell , vol.148 , pp. 1223-1241
    • Malhotra, D.1    Sebat, J.2
  • 68
    • 79956073505 scopus 로고    scopus 로고
    • The development of flexible lentiviral vectors for gene transfer in the CNS
    • Manfredsson FP, Mandel RJ. 2011. The development of flexible lentiviral vectors for gene transfer in the CNS. Exp Neurol 229:201-206.
    • (2011) Exp Neurol , vol.229 , pp. 201-206
    • Manfredsson, F.P.1    Mandel, R.J.2
  • 69
    • 79958786682 scopus 로고    scopus 로고
    • Aripiprazole in the treatment of irritability in pediatric patients (aged 6-17 years) with autistic disorder: Results from a 52-week, open-label study
    • Marcus RN, Owen R, Manos G, Mankoski R, Kamen L, McQuade RD, Carson WH, et al. 2011a. Aripiprazole in the treatment of irritability in pediatric patients (aged 6-17 years) with autistic disorder: Results from a 52-week, open-label study. J Child Adolesc Psychopharmacol 21:229-236.
    • (2011) J Child Adolesc Psychopharmacol , vol.21 , pp. 229-236
    • Marcus, R.N.1    Owen, R.2    Manos, G.3    Mankoski, R.4    Kamen, L.5    McQuade, R.D.6    Carson, W.H.7
  • 70
    • 80052989828 scopus 로고    scopus 로고
    • Safety and tolerability of aripiprazole for irritability in pediatric patients with autistic disorder: A 52-week, open-label, multicenter study
    • Marcus RN, Owen R, Manos G, Mankoski R, Kamen L, McQuade RD, Carson WH, et al. 2011b. Safety and tolerability of aripiprazole for irritability in pediatric patients with autistic disorder: A 52-week, open-label, multicenter study. J Clin Psychiatry 72:1270-1276.
    • (2011) J Clin Psychiatry , vol.72 , pp. 1270-1276
    • Marcus, R.N.1    Owen, R.2    Manos, G.3    Mankoski, R.4    Kamen, L.5    McQuade, R.D.6    Carson, W.H.7
  • 77
    • 34548137765 scopus 로고    scopus 로고
    • The status of pharmacotherapy for autism spectrum disorders
    • Myers SM. 2007. The status of pharmacotherapy for autism spectrum disorders. Expert Opin Pharmacother 8:1579-1603.
    • (2007) Expert Opin Pharmacother , vol.8 , pp. 1579-1603
    • Myers, S.M.1
  • 78
    • 36048962688 scopus 로고    scopus 로고
    • Management of children with autism spectrum disorders
    • Myers SM, Johnson CP. 2007. Management of children with autism spectrum disorders. Pediatrics 120:1162-1182.
    • (2007) Pediatrics , vol.120 , pp. 1162-1182
    • Myers, S.M.1    Johnson, C.P.2
  • 79
    • 0033165926 scopus 로고    scopus 로고
    • Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin
    • Naisbitt S, Kim E, Tu JC, Xiao B, Sala C, Valtschanoff J, Weinberg RJ, et al. 1999. Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin. Neuron 23:569-582.
    • (1999) Neuron , vol.23 , pp. 569-582
    • Naisbitt, S.1    Kim, E.2    Tu, J.C.3    Xiao, B.4    Sala, C.5    Valtschanoff, J.6    Weinberg, R.J.7
  • 80
    • 65149090058 scopus 로고    scopus 로고
    • Spine microdomains for postsynaptic signaling and plasticity
    • Newpher TM, Ehlers MD. 2009. Spine microdomains for postsynaptic signaling and plasticity. Trends Cell Biol 19:218-227.
    • (2009) Trends Cell Biol , vol.19 , pp. 218-227
    • Newpher, T.M.1    Ehlers, M.D.2
  • 81
    • 84873051419 scopus 로고    scopus 로고
    • TMS: using the theta-burst protocol to explore mechanism of plasticity in individuals with Fragile X syndrome and autism
    • Oberman LM, Horvath JC, Pascual-Leone A. 2010. TMS: using the theta-burst protocol to explore mechanism of plasticity in individuals with Fragile X syndrome and autism. J Vis Exp. pii:2272
    • (2010) J Vis Exp. , vol.2 P , pp. 2272
    • Oberman, L.M.1    Horvath, J.C.2    Pascual-Leone, A.3
  • 82
    • 77951703552 scopus 로고    scopus 로고
    • First do no harm: Promoting an evidence-based approach to atypical antipsychotic use in children and adolescents
    • Panagiotopoulos C, Ronsley R, Elbe D, Davidson J, Smith DH. 2010. First do no harm: Promoting an evidence-based approach to atypical antipsychotic use in children and adolescents. J Can Acad Child Adolesc Psychiatry 19:124-137.
    • (2010) J Can Acad Child Adolesc Psychiatry , vol.19 , pp. 124-137
    • Panagiotopoulos, C.1    Ronsley, R.2    Elbe, D.3    Davidson, J.4    Smith, D.H.5
  • 84
    • 78649513139 scopus 로고    scopus 로고
    • Modulation of cortical excitability induced by repetitive transcranial magnetic stimulation: Influence of timing and geometrical parameters and underlying mechanisms
    • Pell GS, Roth Y, Zangen A. 2011. Modulation of cortical excitability induced by repetitive transcranial magnetic stimulation: Influence of timing and geometrical parameters and underlying mechanisms. Prog Neurobiol 93:59-98.
    • (2011) Prog Neurobiol , vol.93 , pp. 59-98
    • Pell, G.S.1    Roth, Y.2    Zangen, A.3
  • 85
    • 79957962471 scopus 로고    scopus 로고
    • Repetitive transcranial magnetic stimulator with controllable pulse parameters
    • Peterchev AV, Murphy DL, Lisanby SH. 2011. Repetitive transcranial magnetic stimulator with controllable pulse parameters. J Neural Eng 8:036016.
    • (2011) J Neural Eng , vol.8 , pp. 036016
    • Peterchev, A.V.1    Murphy, D.L.2    Lisanby, S.H.3
  • 86
    • 84856052337 scopus 로고    scopus 로고
    • In: Roberta A Pagon, Thomas C Bird, Cynthia R Dolan, Karen Stephens, editors. Genetest, E.-i.-c. Seattle; Internet
    • Phelan K. 2007. 22q13.3 Deletion syndrome. In: Roberta A Pagon, Thomas C Bird, Cynthia R Dolan, Karen Stephens, editors. Genetest, E.-i.-c. Seattle; Internet.
    • (2007) 22q13.3 Deletion syndrome
    • Phelan, K.1
  • 88
    • 70450273261 scopus 로고    scopus 로고
    • Safety, ethical considerations, and application guidelines for the use of transcranial magnetic stimulation in clinical practice and research
    • Rossi S, Hallett M, Rossini PM, Pascual-Leone A. 2009. Safety, ethical considerations, and application guidelines for the use of transcranial magnetic stimulation in clinical practice and research. Clin Neurophysiol 120:2008-2039.
    • (2009) Clin Neurophysiol , vol.120 , pp. 2008-2039
    • Rossi, S.1    Hallett, M.2    Rossini, P.M.3    Pascual-Leone, A.4
  • 89
    • 33847076479 scopus 로고    scopus 로고
    • Transcranial magnetic stimulation: Diagnostic, therapeutic, and research potential
    • Rossini PM, Rossi S. 2007. Transcranial magnetic stimulation: Diagnostic, therapeutic, and research potential. Neurology 68:484-488.
    • (2007) Neurology , vol.68 , pp. 484-488
    • Rossini, P.M.1    Rossi, S.2
  • 90
    • 17044378032 scopus 로고    scopus 로고
    • Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons
    • Roussignol G, Ango F, Romorini S, Tu JC, Sala C, Worley PF, Bockaert J, et al. 2005. Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons. J Neurosci 25:3560-3570.
    • (2005) J Neurosci , vol.25 , pp. 3560-3570
    • Roussignol, G.1    Ango, F.2    Romorini, S.3    Tu, J.C.4    Sala, C.5    Worley, P.F.6    Bockaert, J.7
  • 91
    • 77949418629 scopus 로고    scopus 로고
    • Three hypotheses for developmental defects that may underlie some forms of autism spectrum disorder
    • Rubenstein JL. 2010. Three hypotheses for developmental defects that may underlie some forms of autism spectrum disorder. Curr Opin Neurol 23:118-123.
    • (2010) Curr Opin Neurol , vol.23 , pp. 118-123
    • Rubenstein, J.L.1
  • 92
    • 0034879863 scopus 로고    scopus 로고
    • Regulation of dendritic spine morphology and synaptic function by Shank and Homer
    • Sala C, Piech V, Wilson NR, Passafaro M, Liu G, Sheng M. 2001. Regulation of dendritic spine morphology and synaptic function by Shank and Homer. Neuron 31:115-130.
    • (2001) Neuron , vol.31 , pp. 115-130
    • Sala, C.1    Piech, V.2    Wilson, N.R.3    Passafaro, M.4    Liu, G.5    Sheng, M.6
  • 95
    • 0034044563 scopus 로고    scopus 로고
    • The Shank family of scaffold proteins
    • Sheng M, Kim E. 2000. The Shank family of scaffold proteins. J Cell Sci 113 (Pt 11), 1851-1856.
    • (2000) J Cell Sci , vol.113 , Issue.PT 11 , pp. 1851-1856
    • Sheng, M.1    Kim, E.2
  • 96
    • 84855491541 scopus 로고    scopus 로고
    • Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: Focus on Mecp2 and Met
    • Shepherd GM, Katz DM. 2011. Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: Focus on Mecp2 and Met. Curr Opin Neurobiol 21:827-833.
    • (2011) Curr Opin Neurobiol , vol.21 , pp. 827-833
    • Shepherd, G.M.1    Katz, D.M.2
  • 99
    • 84868201622 scopus 로고    scopus 로고
    • Mining and modeling human genetics for autism therapeutics
    • Smith DG and Ehlers MD. 2012. Mining and modeling human genetics for autism therapeutics. Curr Opin Neurobiol 22:902-910.
    • (2012) Curr Opin Neurobiol , vol.22 , pp. 902-910
    • Smith, D.G.1    Ehlers, M.D.2
  • 101
    • 77957912870 scopus 로고    scopus 로고
    • The genetics of child psychiatric disorders: Focus on autism and Tourette syndrome
    • State MW. 2010. The genetics of child psychiatric disorders: Focus on autism and Tourette syndrome. Neuron 68:254-269.
    • (2010) Neuron , vol.68 , pp. 254-269
    • State, M.W.1
  • 102
    • 48349114962 scopus 로고    scopus 로고
    • Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy
    • Sun B, Young SP, Li P, Di C, Brown T, Salva MZ, Li S, et al. 2008. Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy. Mol Ther 16:1366-1371.
    • (2008) Mol Ther , vol.16 , pp. 1366-1371
    • Sun, B.1    Young, S.P.2    Li, P.3    Di, C.4    Brown, T.5    Salva, M.Z.6    Li, S.7
  • 105
    • 80053423590 scopus 로고    scopus 로고
    • Importance of shank3 in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses
    • Verpelli C, Dvoretskova E, Vicidomini C, Rossi F, Chiappalone M, Schoen M, Di Stefano B, et al. 2011. Importance of shank3 in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses. J Biol Chem. 286:34839-34850
    • (2011) J Biol Chem. , vol.286 , pp. 34839-34850
    • Verpelli, C.1    Dvoretskova, E.2    Vicidomini, C.3    Rossi, F.4    Chiappalone, M.5    Schoen, M.6    Di Stefano, B.7
  • 106
    • 77952909655 scopus 로고    scopus 로고
    • Behavioral treatments in autism spectrum disorder: What do we know?
    • Vismara LA, Rogers SJ. 2010. Behavioral treatments in autism spectrum disorder: What do we know? Annu Rev Clin Psychol 6:447-468.
    • (2010) Annu Rev Clin Psychol , vol.6 , pp. 447-468
    • Vismara, L.A.1    Rogers, S.J.2
  • 107
    • 0035287840 scopus 로고    scopus 로고
    • Pharmacological interventions in autism: Theoretical and practical issues
    • Volkmar FR. 2001. Pharmacological interventions in autism: Theoretical and practical issues. J Clin Child Psychol 30:80-87.
    • (2001) J Clin Child Psychol , vol.30 , pp. 80-87
    • Volkmar, F.R.1
  • 108
    • 63849228499 scopus 로고    scopus 로고
    • Autism and autism spectrum disorders: Diagnostic issues for the coming decade
    • Volkmar FR, State M, Klin A. 2009. Autism and autism spectrum disorders: Diagnostic issues for the coming decade. J Child Psychol Psychiatry 50:108-115.
    • (2009) J Child Psychol Psychiatry , vol.50 , pp. 108-115
    • Volkmar, F.R.1    State, M.2    Klin, A.3
  • 109
    • 85027958692 scopus 로고    scopus 로고
    • Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development
    • Waga C, Okamoto N, Ondo Y, Fukumura-Kato R, Goto Y, Kohsaka S, Uchino S. 2011. Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development. Psychiatr Genet 21:208-211.
    • (2011) Psychiatr Genet , vol.21 , pp. 208-211
    • Waga, C.1    Okamoto, N.2    Ondo, Y.3    Fukumura-Kato, R.4    Goto, Y.5    Kohsaka, S.6    Uchino, S.7
  • 110
    • 79960111638 scopus 로고    scopus 로고
    • Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
    • Wang X, McCoy P, Rodriguiz RM, Pan Y, Je HS, Roberts A, Kim C, et al. 2011. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Hum Mol Genet. 20:3093-3108
    • (2011) Hum Mol Genet. , vol.20 , pp. 3093-3108
    • Wang, X.1    McCoy, P.2    Rodriguiz, R.M.3    Pan, Y.4    Je, H.S.5    Roberts, A.6    Kim, C.7
  • 112
    • 0034926868 scopus 로고    scopus 로고
    • Therapeutic application of repetitive transcranial magnetic stimulation: A review
    • Wassermann EM, Lisanby SH. 2001. Therapeutic application of repetitive transcranial magnetic stimulation: A review. Clin Neurophysiol 112:1367-1377.
    • (2001) Clin Neurophysiol , vol.112 , pp. 1367-1377
    • Wassermann, E.M.1    Lisanby, S.H.2
  • 113
    • 0042828948 scopus 로고    scopus 로고
    • Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
    • Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, et al. 2003. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet 40:575-584.
    • (2003) J Med Genet , vol.40 , pp. 575-584
    • Wilson, H.L.1    Wong, A.C.2    Shaw, S.R.3    Tse, W.Y.4    Stapleton, G.A.5    Phelan, M.C.6    Hu, S.7
  • 114
    • 79958260360 scopus 로고    scopus 로고
    • Communication impairments in mice lacking Shank1: Reduced levels of ultrasonic vocalizations and scent marking behavior
    • Wohr M, Roullet FI, Hung AY, Sheng M, Crawley JN. 2011. Communication impairments in mice lacking Shank1: Reduced levels of ultrasonic vocalizations and scent marking behavior. PLoS One 6:e20631.
    • (2011) PLoS One , vol.6
    • Wohr, M.1    Roullet, F.I.2    Hung, A.Y.3    Sheng, M.4    Crawley, J.N.5
  • 115
    • 84861660149 scopus 로고    scopus 로고
    • Differences in White Matter Fiber Tract Development Present From 6 to 24 Months in Infants With Autism
    • Wolff JJ, Gu H, Gerig G, Elison JT, Styner M, Gouttard S, Botteron KN, et al. 2012. Differences in White Matter Fiber Tract Development Present From 6 to 24 Months in Infants With Autism. Am J Psychiatry. 169:589-600
    • (2012) Am J Psychiatry. , vol.169 , pp. 589-600
    • Wolff, J.J.1    Gu, H.2    Gerig, G.3    Elison, J.T.4    Styner, M.5    Gouttard, S.6    Botteron, K.N.7
  • 116
    • 84862297282 scopus 로고    scopus 로고
    • Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
    • Won H, Lee HR, Gee HY, Mah W, Kim JI, Lee J, Ha S, et al. 2012. Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. Nature 486:261-265.
    • (2012) Nature , vol.486 , pp. 261-265
    • Won, H.1    Lee, H.R.2    Gee, H.Y.3    Mah, W.4    Kim, J.I.5    Lee, J.6    Ha, S.7
  • 118
    • 0242300623 scopus 로고    scopus 로고
    • Postnatal neurodevelopmental disorders: Meeting at the synapse?
    • Zoghbi HY. 2003. Postnatal neurodevelopmental disorders: Meeting at the synapse? Science 302:826-830.
    • (2003) Science , vol.302 , pp. 826-830
    • Zoghbi, H.Y.1
  • 119
    • 27144435635 scopus 로고    scopus 로고
    • MeCP2 dysfunction in humans and mice
    • Zoghbi HY. 2005. MeCP2 dysfunction in humans and mice. J Child Neurol 20:736-740.
    • (2005) J Child Neurol , vol.20 , pp. 736-740
    • Zoghbi, H.Y.1
  • 120
    • 66049107663 scopus 로고    scopus 로고
    • Clinical assessment and management of toddlers with suspected autism spectrum disorder: Insights from studies of high-risk infants
    • Zwaigenbaum L, Bryson S, Lord C, Rogers S, Carter A, Carver L, Chawarska K, et al. 2009. Clinical assessment and management of toddlers with suspected autism spectrum disorder: Insights from studies of high-risk infants. Pediatrics 123:1383-1391.
    • (2009) Pediatrics , vol.123 , pp. 1383-1391
    • Zwaigenbaum, L.1    Bryson, S.2    Lord, C.3    Rogers, S.4    Carter, A.5    Carver, L.6    Chawarska, K.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.