메뉴 건너뛰기




Volumn 27, Issue 2, 2017, Pages 1670-1685

CC2D1a loss of function disrupts functional and morphological development in forebrain neurons leading to cognitive and social deficits

Author keywords

Autism; Cognitive development; Dendritic spines; Intellectual disability; Long term plasticity

Indexed keywords

CALCIUM CALMODULIN DEPENDENT PROTEIN KINASE II ALPHA; CRE RECOMBINASE; NESTIN; PROTEIN SERINE THREONINE KINASE; UNCLASSIFIED DRUG; CC2D1A PROTEIN, HUMAN; DNA BINDING PROTEIN; FREUD-1 PROTEIN, MOUSE; REPRESSOR PROTEIN;

EID: 84971647326     PISSN: 10473211     EISSN: 14602199     Source Type: Journal    
DOI: 10.1093/cercor/bhw009     Document Type: Article
Times cited : (39)

References (78)
  • 2
    • 84860356668 scopus 로고    scopus 로고
    • Protein implicated in nonsyndromic mental retardation regulates protein kinase A (PKA) activity
    • Al-Tawashi A, Jung S, Liu D, Su B, Qin J. 2012. Protein implicated in nonsyndromic mental retardation regulates protein kinase A (PKA) activity. J Biol Chem. 287:14644-14658.
    • (2012) J Biol Chem , vol.287 , pp. 14644-14658
    • Al-Tawashi, A.1    Jung, S.2    Liu, D.3    Su, B.4    Qin, J.5
  • 4
    • 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
  • 5
    • 34347215149 scopus 로고    scopus 로고
    • Object recognition in rats and mice: A one-trial non-matching-to-sample learning task to study “recognition memory
    • Bevins R, Besheer J. 2006. Object recognition in rats and mice: a one-trial non-matching-to-sample learning task to study “recognition memory”. Nat Protoc. 1:1306-1311.
    • (2006) Nat Protoc , vol.1 , pp. 1306-1311
    • Bevins, R.1    Besheer, J.2
  • 8
    • 79953200483 scopus 로고    scopus 로고
    • TBK1-associated protein in en-dolysosomes (TAPE) is an innate immune regulator modulating the TLR3 and TLR4 signaling pathways
    • Chang C, Lai L, Cheng H, Chen K, Syue Y, Lu H, Lin W, Chen S, Huang H, Shiau A, et al. 2011. TBK1-associated protein in en-dolysosomes (TAPE) is an innate immune regulator modulating the TLR3 and TLR4 signaling pathways. J Biol Chem. 286:7043-7051.
    • (2011) J Biol Chem , vol.286 , pp. 7043-7051
    • Chang, C.1    Lai, L.2    Cheng, H.3    Chen, K.4    Syue, Y.5    Lu, H.6    Lin, W.7    Chen, S.8    Huang, H.9    Shiau, A.10
  • 10
    • 84866395137 scopus 로고    scopus 로고
    • TBK1-associated protein in endoly-sosomes (TAPE)/CC2D1A is a key regulator linking RIG-I-like receptors to antiviral immunity
    • Chen K, Chang C, Huang C, Lin C, Lin W, Lo Y, Yang C, Hsing E, Chen L, Shih S, et al. 2012. TBK1-associated protein in endoly-sosomes (TAPE)/CC2D1A is a key regulator linking RIG-I-like receptors to antiviral immunity. J Biol Chem. 287:32216-32221.
    • (2012) J Biol Chem , vol.287 , pp. 32216-32221
    • Chen, K.1    Chang, C.2    Huang, C.3    Lin, C.4    Lin, W.5    Lo, Y.6    Yang, C.7    Hsing, E.8    Chen, L.9    Shih, S.10
  • 12
    • 84875825504 scopus 로고    scopus 로고
    • Translational animal models of autism and neurodevelopmental disorders
    • Crawley J. 2012. Translational animal models of autism and neurodevelopmental disorders. Dialog Clin Neurosci. 14:293-305.
    • (2012) Dialog Clin Neurosci , vol.14 , pp. 293-305
    • Crawley, J.1
  • 13
    • 84930515648 scopus 로고    scopus 로고
    • Neurological and neuropsychiatric aspects of tuberous sclerosis complex
    • Curatolo P, Moavero R, de Vries PJ. 2015. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol. 14:733-745.
    • (2015) Lancet Neurol , vol.14 , pp. 733-745
    • Curatolo, P.1    Moavero, R.2    De Vries, P.J.3
  • 14
    • 33947681627 scopus 로고    scopus 로고
    • Digging and marble burying in mice: Simple methods for in vivo identification of biological impacts
    • Deacon RMJ. 2006. Digging and marble burying in mice: simple methods for in vivo identification of biological impacts. Nat Protoc. 1:122-124.
    • (2006) Nat Protoc , vol.1 , pp. 122-124
    • Deacon, R.M.J.1
  • 16
    • 84886599867 scopus 로고    scopus 로고
    • The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations
    • Ey E, Torquet N, Le Sourd A-M, Leblond C, Boeckers T, Faure P, Bourgeron T. 2013. The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations. Behav Brain Res. 256:677-689.
    • (2013) Behav Brain Res , vol.256 , pp. 677-689
    • Ey, E.1    Torquet, N.2    Le Sourd, A.-M.3    Leblond, C.4    Boeckers, T.5    Faure, P.6    Bourgeron, T.7
  • 17
    • 0034487368 scopus 로고    scopus 로고
    • Widespread recombinase expression using FLPeR (flipper) mice
    • Farley F, Soriano P, Steffen L, Dymecki S. 2000. Widespread recombinase expression using FLPeR (flipper) mice. Genesis. 28:106-110.
    • (2000) Genesis , vol.28 , pp. 106-110
    • Farley, F.1    Soriano, P.2    Steffen, L.3    Dymecki, S.4
  • 19
    • 37849027524 scopus 로고    scopus 로고
    • Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities
    • Fraser M, Bayazitov I, Zakharenko S, Baker S. 2008. Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities. Neuroscience. 151:476-488.
    • (2008) Neuroscience , vol.151 , pp. 476-488
    • Fraser, M.1    Bayazitov, I.2    Zakharenko, S.3    Baker, S.4
  • 20
    • 33750479395 scopus 로고    scopus 로고
    • The conserved c2 domain protein lethal (2) giant discs regulates protein trafficking in Drosophila
    • Gallagher C, Knoblich J. 2006. The conserved c2 domain protein lethal (2) giant discs regulates protein trafficking in Drosophila. Dev Cell. 11:641-653.
    • (2006) Dev Cell , vol.11 , pp. 641-653
    • Gallagher, C.1    Knoblich, J.2
  • 23
    • 84901608878 scopus 로고    scopus 로고
    • Large-scale gen-omics unveils the genetic architecture of psychiatric disorders
    • Gratten J, Wray NR, Keller MC, Visscher PM. 2014. Large-scale gen-omics unveils the genetic architecture of psychiatric disorders. Nat Neurosci. 17:782-790.
    • (2014) Nat Neurosci , vol.17 , pp. 782-790
    • Gratten, J.1    Wray, N.R.2    Keller, M.C.3    Visscher, P.M.4
  • 25
    • 84884289158 scopus 로고    scopus 로고
    • The trouble with spines in fragile X syndrome: Density, maturity and plasticity
    • He CX, Portera-Cailliau C. 2013. The trouble with spines in fragile X syndrome: density, maturity and plasticity. Neuroscience. 251:120-128.
    • (2013) Neuroscience , vol.251 , pp. 120-128
    • He, C.X.1    Portera-Cailliau, C.2
  • 27
    • 84901617965 scopus 로고    scopus 로고
    • Prioritization of neurodevelopmental disease genes by discovery of new mutations
    • Hoischen A, Krumm N, Eichler EE. 2014. Prioritization of neurodevelopmental disease genes by discovery of new mutations. Nat Neurosci. 17:764-772.
    • (2014) Nat Neurosci , vol.17 , pp. 764-772
    • Hoischen, A.1    Krumm, N.2    Eichler, E.E.3
  • 29
    • 72049108920 scopus 로고    scopus 로고
    • Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders
    • Hutsler JJ, Zhang H. 2010. Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders. Brain Res. 1309:83-94.
    • (2010) Brain Res , vol.1309 , pp. 83-94
    • Hutsler, J.J.1    Zhang, H.2
  • 30
    • 0016153603 scopus 로고
    • Dendritic development in neocortex of children with mental defect and infantile spasms
    • Huttenlocher PR. 1974. Dendritic development in neocortex of children with mental defect and infantile spasms. Neurology. 24:203-210.
    • (1974) Neurology , vol.24 , pp. 203-210
    • Huttenlocher, P.R.1
  • 31
    • 33750433236 scopus 로고    scopus 로고
    • The Drosophila Notch inhibitor and tumor suppressor gene lethal (2) giant discs encodes a conserved regulator of endosomal trafficking
    • Jaekel R, Klein T. 2006. The Drosophila Notch inhibitor and tumor suppressor gene lethal (2) giant discs encodes a conserved regulator of endosomal trafficking. Dev Cell. 11:655-669.
    • (2006) Dev Cell , vol.11 , pp. 655-669
    • Jaekel, R.1    Klein, T.2
  • 32
    • 30544449810 scopus 로고    scopus 로고
    • Control of dendritic arborization by the phosphoinosi-tide-3′-kinase-Akt-mammalian target of rapamycin pathway
    • Jaworski J, Spangler S, Seeburg DP, Hoogenraad CC, Sheng M. 2005. Control of dendritic arborization by the phosphoinosi-tide-3′-kinase-Akt-mammalian target of rapamycin pathway. J Neurosci. 25:11300-11312.
    • (2005) J Neurosci , vol.25 , pp. 11300-11312
    • Jaworski, J.1    Spangler, S.2    Seeburg, D.P.3    Hoogenraad, C.C.4    Sheng, M.5
  • 33
    • 84876070991 scopus 로고    scopus 로고
    • Modeling autism by SHANK gene mutations in mice
    • Jiang Y, Ehlers MD. 2013. Modeling autism by SHANK gene mutations in mice. Neuron. 78:8-27.
    • (2013) Neuron , vol.78 , pp. 8-27
    • Jiang, Y.1    Ehlers, M.D.2
  • 35
    • 84952895502 scopus 로고    scopus 로고
    • Evaluation of the neuroactive steroid ganax-olone on social and repetitive behaviors in the BTBR mouse model of autism
    • Kazdoba TM, Hagerman RJ, Zolkowska D, Rogawski MA, Crawley JN. 2015. Evaluation of the neuroactive steroid ganax-olone on social and repetitive behaviors in the BTBR mouse model of autism. Psychopharmacology (Berl). 233:309-323.
    • (2015) Psychopharmacology (Berl) , vol.233 , pp. 309-323
    • Kazdoba, T.M.1    Hagerman, R.J.2    Zolkowska, D.3    Rogawski, M.A.4    Crawley, J.N.5
  • 36
    • 33845232989 scopus 로고    scopus 로고
    • Neuroanatomical, molecular genetic, and behavioral correlates of Fragile X syndrome
    • Koukoui SD, Chaudhuri A. 2007. Neuroanatomical, molecular genetic, and behavioral correlates of Fragile X syndrome. Brain Res Rev. 53:27-38.
    • (2007) Brain Res Rev , vol.53 , pp. 27-38
    • Koukoui, S.D.1    Chaudhuri, A.2
  • 38
    • 0242268407 scopus 로고    scopus 로고
    • MTor is required for hypertrophy of Pten-deficient neuronal soma in vivo
    • Kwon C-H, Zhu X, Zhang J, Baker SJ. 2003. mTor is required for hypertrophy of Pten-deficient neuronal soma in vivo. Proc Natl Acad Sci USA. 100:12923-12928.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 12923-12928
    • Kwon, C.-H.1    Zhu, X.2    Zhang, J.3    Baker, S.J.4
  • 40
    • 80051940280 scopus 로고    scopus 로고
    • Simple neurite tracer: Open source software for reconstruction, visualization and analysis of neuronal processes
    • Longair M, Baker D, Armstrong J. 2011. Simple Neurite Tracer: open source software for reconstruction, visualization and analysis of neuronal processes. Bioinformatics. 27:2453-2454.
    • (2011) Bioinformatics , vol.27 , pp. 2453-2454
    • Longair, M.1    Baker, D.2    Armstrong, J.3
  • 44
    • 43549114794 scopus 로고    scopus 로고
    • Clinical implications of respiratory-swallowing interactions
    • Martin-Harris B. 2008. Clinical implications of respiratory-swallowing interactions. Curr Opin Otolaryngol Head Neck Surg. 16:194-199.
    • (2008) Curr Opin Otolaryngol Head Neck Surg , vol.16 , pp. 194-199
    • Martin-Harris, B.1
  • 45
    • 22244449230 scopus 로고    scopus 로고
    • Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3
    • Meng J, Meng Y, Hanna A, Janus C, Jia Z. 2005. Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3. J Neurosci. 25:6641-6650.
    • (2005) J Neurosci , vol.25 , pp. 6641-6650
    • Meng, J.1    Meng, Y.2    Hanna, A.3    Janus, C.4    Jia, Z.5
  • 46
    • 84930713103 scopus 로고    scopus 로고
    • Lgd regulates the activity of the BMP/Dpp signalling pathway during Drosophila oogen-esis
    • Morawa KS, Schneider M, Klein T. 2015. Lgd regulates the activity of the BMP/Dpp signalling pathway during Drosophila oogen-esis. Development. 142:1325-1335.
    • (2015) Development , vol.142 , pp. 1325-1335
    • Morawa, K.S.1    Schneider, M.2    Klein, T.3
  • 48
    • 52649111175 scopus 로고    scopus 로고
    • Freud-1/Aki1, a novel PDK1-interacting protein, functions as a scaffold to activate the PDK1/Akt pathway in epidermal growth factor signaling
    • Nakamura A, Naito M, Tsuruo T, Fujita N. 2008. Freud-1/Aki1, a novel PDK1-interacting protein, functions as a scaffold to activate the PDK1/Akt pathway in epidermal growth factor signaling. Mol Cell Biol. 28:5996-6009.
    • (2008) Mol Cell Biol , vol.28 , pp. 5996-6009
    • Nakamura, A.1    Naito, M.2    Tsuruo, T.3    Fujita, N.4
  • 53
    • 84860172447 scopus 로고    scopus 로고
    • The 22q13.3 deletion syndrome (Phelan-McDermid Syndrome)
    • Phelan K, McDermid HE. 2012. The 22q13.3 deletion syndrome (Phelan-McDermid Syndrome). Mol Syndromol. 2:186-201.
    • (2012) Mol Syndromol , vol.2 , pp. 186-201
    • Phelan, K.1    McDermid, H.E.2
  • 54
    • 0016251748 scopus 로고
    • Dendritic spine “dysgenesis” and mental retardation
    • Purpura DP. 1974. Dendritic spine “dysgenesis” and mental retardation. Science. 186:1126-1128.
    • (1974) Science , vol.186 , pp. 1126-1128
    • Purpura, D.P.1
  • 56
    • 34547123554 scopus 로고    scopus 로고
    • Differential repression by Freud-1/CC2D1A at a polymorphic site in the dopamine-D2 receptor gene
    • Rogaeva A, Ou XM, Jafar-Nejad H, Lemonde S, Albert PR. 2007. Differential repression by Freud-1/CC2D1A at a polymorphic site in the dopamine-D2 receptor gene. J Biol Chem. 282: 20897-20905.
    • (2007) J Biol Chem , vol.282 , pp. 20897-20905
    • Rogaeva, A.1    Ou, X.M.2    Jafar-Nejad, H.3    Lemonde, S.4    Albert, P.R.5
  • 62
    • 0029045856 scopus 로고
    • Strain-dependent epithelial defects in mice lacking the EGF receptor
    • Sibilia M, Wagner EF. 1995. Strain-dependent epithelial defects in mice lacking the EGF receptor. Science. 269:234-238.
    • (1995) Science , vol.269 , pp. 234-238
    • Sibilia, M.1    Wagner, E.F.2
  • 64
    • 0019419703 scopus 로고
    • Abnormal neuronal development in the visual cortex of the human fetus and infant with Down's syndrome. A quantitative and qualitative Golgi study
    • Takashima S, Becker L, Armstrong D, Chan F. 1981. Abnormal neuronal development in the visual cortex of the human fetus and infant with Down's syndrome. A quantitative and qualitative Golgi study. Brain Res. 225:1-21.
    • (1981) Brain Res , vol.225 , pp. 1-21
    • Takashima, S.1    Becker, L.2    Armstrong, D.3    Chan, F.4
  • 65
  • 68
    • 84858118267 scopus 로고    scopus 로고
    • The tumour suppressor Lethal (2) giant discs is required for the function of the ESCRT-III component Shrub/CHMP4
    • Troost T, Jaeckel S, Ohlenhard N, Klein T. 2012. The tumour suppressor Lethal (2) giant discs is required for the function of the ESCRT-III component Shrub/CHMP4. J Cell Sci. 125:763-776.
    • (2012) J Cell Sci , vol.125 , pp. 763-776
    • Troost, T.1    Jaeckel, S.2    Ohlenhard, N.3    Klein, T.4
  • 70
    • 33846461062 scopus 로고    scopus 로고
    • Morris water maze: Procedures for assessing spatial and related forms of learning and memory
    • Vorhees C, Williams M. 2006. Morris water maze: procedures for assessing spatial and related forms of learning and memory. Nat Protoc. 1:848-858.
    • (2006) Nat Protoc , vol.1 , pp. 848-858
    • Vorhees, C.1    Williams, M.2
  • 71
    • 0036206130 scopus 로고    scopus 로고
    • Protean PTEN: Form and function
    • Waite KA, Eng C. 2002. Protean PTEN: form and function. Am J Hum Genet. 70:829-844.
    • (2002) Am J Hum Genet , vol.70 , pp. 829-844
    • Waite, K.A.1    Eng, C.2
  • 73
    • 84899839947 scopus 로고    scopus 로고
    • Ultrasonic vocalizations in Shank mouse models for autism spectrum disorders: Detailed spectrographic analyses and developmental profiles
    • Wöhr M. 2014. Ultrasonic vocalizations in Shank mouse models for autism spectrum disorders: detailed spectrographic analyses and developmental profiles. Neurosci Biobehav Rev. 43:199-212.
    • (2014) Neurosci Biobehav Rev , vol.43 , pp. 199-212
    • Wöhr, M.1
  • 74
    • 84862297282 scopus 로고    scopus 로고
    • Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
    • Won H, Lee H-R, Gee HY, Mah W, Kim J-I, Lee J, Ha S, Chung C, Jung ES, Cho YS, 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    Chung, C.8    Jung, E.S.9    Cho, Y.S.10
  • 77
    • 77955287060 scopus 로고    scopus 로고
    • CC2D1A, a DM14 and C2 domain protein, activates NF-kappaB through the canonical pathway
    • Zhao M, Li X-D, Chen Z. 2010. CC2D1A, a DM14 and C2 domain protein, activates NF-kappaB through the canonical pathway. J Biol Chem. 285:24372-24380.
    • (2010) J Biol Chem , vol.285 , pp. 24372-24380
    • Zhao, M.1    Li, X.-D.2    Chen, Z.3
  • 78
    • 79955156545 scopus 로고    scopus 로고
    • Cc2d1a, a C2 domain containing protein linked to nonsyndromic mental retardation, controls functional maturation of central synapses
    • Zhao M, Raingo J, Chen Z, Kavalali E. 2011. Cc2d1a, a C2 domain containing protein linked to nonsyndromic mental retardation, controls functional maturation of central synapses. J Neurophysiol. 105:1506-1515.
    • (2011) J Neurophysiol , vol.105 , pp. 1506-1515
    • Zhao, M.1    Raingo, J.2    Chen, Z.3    Kavalali, E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.