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Volumn 109, Issue 52, 2012, Pages 21516-21521

Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 5; MAMMALIAN TARGET OF RAPAMYCIN; PROTEIN KINASE B;

EID: 84871837838     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1216988110     Document Type: Article
Times cited : (172)

References (54)
  • 1
    • 84858158216 scopus 로고    scopus 로고
    • Epilepsy. Genetics of early-onset epilepsy with encephalopathy
    • Nabbout R, Dulac O (2011) Epilepsy. Genetics of early-onset epilepsy with encephalopathy. Nat Rev Neurol 8(3):129-130.
    • (2011) Nat Rev Neurol , vol.8 , Issue.3 , pp. 129-130
    • Nabbout, R.1    Dulac, O.2
  • 2
    • 35648978121 scopus 로고    scopus 로고
    • The Story of Rett Syndrome: From Clinic to Neurobiology
    • DOI 10.1016/j.neuron.2007.10.001, PII S0896627307007568
    • Chahrour M, Zoghbi HY (2007) The story of Rett syndrome: From clinic to neurobiology. Neuron 56(3):422-437. (Pubitemid 350026269)
    • (2007) Neuron , vol.56 , Issue.3 , pp. 422-437
    • Chahrour, M.1    Zoghbi, H.Y.2
  • 3
    • 79958204980 scopus 로고    scopus 로고
    • Protein interactome reveals converging molecular pathways among autism disorders
    • Sakai Y, et al. (2011) Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med 3(86):86ra49.
    • (2011) Sci Transl Med , vol.3 , Issue.86
    • Sakai, Y.1
  • 4
    • 84860347597 scopus 로고    scopus 로고
    • Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
    • Talkowski ME, et al. (2012) Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell 149(3):525-537.
    • (2012) Cell , vol.149 , Issue.3 , pp. 525-537
    • Talkowski, M.E.1
  • 5
    • 54949090865 scopus 로고    scopus 로고
    • Key clinical features to identify girls with CDKL5 mutations
    • Bahi-Buisson N, et al. (2008) Key clinical features to identify girls with CDKL5 mutations. Brain 131(Pt 10):2647-2661.
    • (2008) Brain , vol.131 , Issue.PART 10 , pp. 2647-2661
    • Bahi-Buisson, N.1
  • 6
    • 84863737648 scopus 로고    scopus 로고
    • What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy
    • Kilstrup-Nielsen C, et al. (2012) What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. Neural Plast 2012:728267.
    • (2012) Neural Plast , vol.2012 , pp. 728267
    • Kilstrup-Nielsen, C.1
  • 8
    • 56349150405 scopus 로고    scopus 로고
    • Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1
    • Kameshita I, et al. (2008) Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1. Biochem Biophys Res Commun 377(4):1162-1167.
    • (2008) Biochem Biophys Res Commun , vol.377 , Issue.4 , pp. 1162-1167
    • Kameshita, I.1
  • 9
    • 84865773360 scopus 로고    scopus 로고
    • CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons
    • Ricciardi S, et al. (2012) CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nat Cell Biol 14(9):911-923.
    • (2012) Nat Cell Biol , vol.14 , Issue.9 , pp. 911-923
    • Ricciardi, S.1
  • 10
    • 77957196807 scopus 로고    scopus 로고
    • CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling
    • Chen Q, et al. (2010) CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. J Neurosci 30(38):12777-12786.
    • (2010) J Neurosci , vol.30 , Issue.38 , pp. 12777-12786
    • Chen, Q.1
  • 11
    • 29644439879 scopus 로고    scopus 로고
    • CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders
    • DOI 10.1093/hmg/ddi391
    • Lin C, Franco B, Rosner MR (2005) CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. Hum Mol Genet 14(24):3775-3786. (Pubitemid 43020080)
    • (2005) Human Molecular Genetics , vol.14 , Issue.24 , pp. 3775-3786
    • Lin, C.1    Franco, B.2    Rosner, M.R.3
  • 12
    • 84860202594 scopus 로고    scopus 로고
    • CDKL5-related disorders: From clinical description to molecular genetics
    • Bahi-Buisson N, Bienvenu T (2012) CDKL5-related disorders: From clinical description to molecular genetics. Mol Syndromol 2(3-5):137-152.
    • (2012) Mol Syndromol , vol.2 , Issue.3-5 , pp. 137-152
    • Bahi-Buisson, N.1    Bienvenu, T.2
  • 14
    • 80053576988 scopus 로고    scopus 로고
    • CDKL5 alterations lead to early epileptic encephalopathy in both genders
    • Liang J-S, et al. (2011) CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 52(10):1835-1842.
    • (2011) Epilepsia , vol.52 , Issue.10 , pp. 1835-1842
    • Liang, J.-S.1
  • 15
    • 84856117554 scopus 로고    scopus 로고
    • Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations
    • Moseley BD, Dhamija R, Wirrell EC, Nickels KC (2012) Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. Pediatr Neurol 46(2):101-105.
    • (2012) Pediatr Neurol , vol.46 , Issue.2 , pp. 101-105
    • Moseley, B.D.1    Dhamija, R.2    Wirrell, E.C.3    Nickels, K.C.4
  • 16
    • 84862274500 scopus 로고    scopus 로고
    • Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2
    • Schmeisser MJ, et al. (2012) Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2. Nature 486(7402):256-260.
    • (2012) Nature , vol.486 , Issue.7402 , pp. 256-260
    • Schmeisser, M.J.1
  • 17
    • 84862297282 scopus 로고    scopus 로고
    • Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
    • Won H, et al. (2012) Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. Nature 486(7402):261-265.
    • (2012) Nature , vol.486 , Issue.7402 , pp. 261-265
    • Won, H.1
  • 18
    • 84865508373 scopus 로고    scopus 로고
    • Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
    • Tsai PT, et al. (2012) Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature 488(7413):647-651.
    • (2012) Nature , vol.488 , Issue.7413 , pp. 647-651
    • Tsai, P.T.1
  • 19
    • 84856270235 scopus 로고    scopus 로고
    • Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses
    • Goffin D, et al. (2012) Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses. Nat Neurosci 15(2):274-283.
    • (2012) Nat Neurosci , vol.15 , Issue.2 , pp. 274-283
    • Goffin, D.1
  • 20
    • 0035094767 scopus 로고    scopus 로고
    • A mouse Mecp2-null mutation causes neurological symptoms that mimic rett syndrome
    • DOI 10.1038/85899
    • Guy J, Hendrich B, Holmes M, Martin JE, Bird A (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27(3):322-326. (Pubitemid 32201856)
    • (2001) Nature Genetics , vol.27 , Issue.3 , pp. 322-326
    • Guy, J.1    Hendrich, B.2    Holmes, M.3    Martin, J.E.4    Bird, A.5
  • 22
    • 78149431869 scopus 로고    scopus 로고
    • Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
    • Chao H-T, et al. (2010) Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature 468(7321):263-269.
    • (2010) Nature , vol.468 , Issue.7321 , pp. 263-269
    • Chao, H.-T.1
  • 23
    • 67650732715 scopus 로고    scopus 로고
    • Advances in autism
    • Geschwind DH (2009) Advances in autism. Annu Rev Med 60:367-380.
    • (2009) Annu Rev Med , vol.60 , pp. 367-380
    • Geschwind, D.H.1
  • 24
    • 42349095075 scopus 로고    scopus 로고
    • Advances in autism genetics: On the threshold of a new neurobiology
    • DOI 10.1038/nrg2346, PII NRG2346
    • Abrahams BS, Geschwind DH (2008) Advances in autism genetics: On the threshold of a new neurobiology. Nat Rev Genet 9(5):341-355. (Pubitemid 351556064)
    • (2008) Nature Reviews Genetics , vol.9 , Issue.5 , pp. 341-355
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 26
    • 80053540965 scopus 로고    scopus 로고
    • Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
    • Peñagarikano O, et al. (2011) Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell 147(1):235-246.
    • (2011) Cell , vol.147 , Issue.1 , pp. 235-246
    • Peñagarikano, O.1
  • 27
    • 33750361629 scopus 로고    scopus 로고
    • Comparison of seizure phenotype and neurodegeneration induced by systemic kainic acid in inbred, outbred, and hybrid mouse strains
    • DOI 10.1111/j.1460-9568.2006.05111.x
    • McLin JP, Steward O (2006) Comparison of seizure phenotype and neurodegeneration induced by systemic kainic acid in inbred, outbred, and hybrid mouse strains. Eur J Neurosci 24(8):2191-2202. (Pubitemid 44622340)
    • (2006) European Journal of Neuroscience , vol.24 , Issue.8 , pp. 2191-2202
    • McLin, J.P.1    Steward, O.2
  • 28
    • 78649838895 scopus 로고    scopus 로고
    • Validating γ oscillations and delayed auditory responses as translational biomarkers of autism
    • Gandal MJ, et al. (2010) Validating γ oscillations and delayed auditory responses as translational biomarkers of autism. Biol Psychiatry 68(12):1100-1106.
    • (2010) Biol Psychiatry , vol.68 , Issue.12 , pp. 1100-1106
    • Gandal, M.J.1
  • 29
    • 84858156749 scopus 로고    scopus 로고
    • MeCP2+/- Mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum disorder
    • Liao W, Gandal MJ, Ehrlichman RS, Siegel SJ, Carlson GC (2012) MeCP2+/- mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum disorder. Neurobiol Dis 46(1):88-92.
    • (2012) Neurobiol Dis , vol.46 , Issue.1 , pp. 88-92
    • Liao, W.1    Gandal, M.J.2    Ehrlichman, R.S.3    Siegel, S.J.4    Carlson, G.C.5
  • 30
    • 33745911127 scopus 로고    scopus 로고
    • The development of visual- and auditory processing in Rett syndrome: An ERP study
    • DOI 10.1016/j.braindev.2006.02.011, PII S038776040600060X
    • Stauder JEA, Smeets EEJ, van Mil SGM, Curfs LGM (2006) The development of visual- and auditory processing in Rett syndrome: An ERP study. Brain Dev 28(8):487-494. (Pubitemid 44051823)
    • (2006) Brain and Development , vol.28 , Issue.8 , pp. 487-494
    • Stauder, J.E.A.1    Smeets, E.E.J.2    Van Mil, S.G.M.3    Curfs, L.G.M.4
  • 31
    • 77249176699 scopus 로고    scopus 로고
    • MEG detection of delayed auditory evoked responses in autism spectrum disorders: Towards an imaging biomarker for autism
    • Roberts TPL, et al. (2010) MEG detection of delayed auditory evoked responses in autism spectrum disorders: Towards an imaging biomarker for autism. Autism Res 3(1):8-18.
    • (2010) Autism Res , vol.3 , Issue.1 , pp. 8-18
    • Roberts, T.P.L.1
  • 33
    • 0028844538 scopus 로고
    • Subgroups of autistic children based on social behavior display distinct patterns of brain activity
    • Dawson G, Klinger LG, Panagiotides H, Lewy A, Castelloe P (1995) Subgroups of autistic children based on social behavior display distinct patterns of brain activity. J Abnorm Child Psychol 23(5):569-583.
    • (1995) J Abnorm Child Psychol , vol.23 , Issue.5 , pp. 569-583
    • Dawson, G.1    Klinger, L.G.2    Panagiotides, H.3    Lewy, A.4    Castelloe, P.5
  • 36
    • 77956621143 scopus 로고    scopus 로고
    • Akt-RSK-S6 kinase signaling networks activated by oncogenic receptor tyrosine kinases
    • Moritz A, et al. (2010) Akt-RSK-S6 kinase signaling networks activated by oncogenic receptor tyrosine kinases. Sci Signal 3(136):ra64.
    • (2010) Sci Signal , vol.3 , Issue.136
    • Moritz, A.1
  • 37
    • 79952032711 scopus 로고    scopus 로고
    • Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model
    • Ricciardi S, et al. (2011) Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. Hum Mol Genet 20(6):1182-1196.
    • (2011) Hum Mol Genet , vol.20 , Issue.6 , pp. 1182-1196
    • Ricciardi, S.1
  • 38
    • 84868198811 scopus 로고    scopus 로고
    • PTEN signaling in autism spectrum disorders
    • Zhou J, Parada LF (2012) PTEN signaling in autism spectrum disorders. Curr Opin Neurobiol 22:873-879.
    • (2012) Curr Opin Neurobiol , vol.22 , pp. 873-879
    • Zhou, J.1    Parada, L.F.2
  • 39
    • 34047095297 scopus 로고    scopus 로고
    • The Two TORCs and Akt
    • DOI 10.1016/j.devcel.2007.03.020, PII S1534580707001207
    • Bhaskar PT, Hay N (2007) The two TORCs and Akt. Dev Cell 12(4):487-502. (Pubitemid 46523652)
    • (2007) Developmental Cell , vol.12 , Issue.4 , pp. 487-502
    • Bhaskar, P.T.1    Hay, N.2
  • 42
    • 83455253301 scopus 로고    scopus 로고
    • The role of alpha-band brain oscillations as a sensory suppression mechanism during selective attention
    • Foxe JJ, Snyder AC (2011) The role of alpha-band brain oscillations as a sensory suppression mechanism during selective attention. Front Psychol 2:154.
    • (2011) Front Psychol , vol.2 , pp. 154
    • Foxe, J.J.1    Snyder, A.C.2
  • 43
    • 79551687891 scopus 로고    scopus 로고
    • A new look at gamma? High- (>60 Hz) γ-band activity in cortical networks: Function, mechanisms and impairment
    • Uhlhaas PJ, Pipa G, Neuenschwander S, Wibral M, Singer W (2011) A new look at gamma? High- (>60 Hz) γ-band activity in cortical networks: Function, mechanisms and impairment. Prog Biophys Mol Biol 105(1-2):14-28.
    • (2011) Prog Biophys Mol Biol , vol.105 , Issue.1-2 , pp. 14-28
    • Uhlhaas, P.J.1    Pipa, G.2    Neuenschwander, S.3    Wibral, M.4    Singer, W.5
  • 44
    • 33947613170 scopus 로고    scopus 로고
    • New vistas for α-frequency band oscillations
    • DOI 10.1016/j.tins.2007.02.001, PII S0166223607000264
    • Palva S, Palva JM (2007) New vistas for alpha-frequency band oscillations. Trends Neurosci 30(4):150-158. (Pubitemid 46486681)
    • (2007) Trends in Neurosciences , vol.30 , Issue.4 , pp. 150-158
    • Palva, S.1    Palva, J.M.2
  • 45
    • 0344825173 scopus 로고    scopus 로고
    • Synchronous neural oscillations and cognitive processes
    • Ward LM (2003) Synchronous neural oscillations and cognitive processes. Trends Cogn Sci 7(12):553-559.
    • (2003) Trends Cogn Sci , vol.7 , Issue.12 , pp. 553-559
    • Ward, L.M.1
  • 46
    • 27644588427 scopus 로고    scopus 로고
    • Theta rhythm of navigation: Link between path integration and landmark navigation, episodic and semantic memory
    • Buzsáki G (2005) Theta rhythm of navigation: Link between path integration and landmark navigation, episodic and semantic memory. Hippocampus 15(7):827-840.
    • (2005) Hippocampus , vol.15 , Issue.7 , pp. 827-840
    • Buzsáki, G.1
  • 47
    • 42449103568 scopus 로고    scopus 로고
    • Characterization of autism in young children with tuberous sclerosis complex
    • DOI 10.1177/0883073807309788
    • Jeste SS, Sahin M, Bolton P, Ploubidis GB, Humphrey A (2008) Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol 23(5):520-525. (Pubitemid 351566864)
    • (2008) Journal of Child Neurology , vol.23 , Issue.5 , pp. 520-525
    • Jeste, S.1    Sahin, M.2    Bolton, P.3    Ploubidis, G.4    Humphrey, A.5
  • 48
    • 78650510609 scopus 로고    scopus 로고
    • MTOR: From growth signal integration to cancer, diabetes and ageing
    • Zoncu R, Efeyan A, Sabatini DM (2011) mTOR: from growth signal integration to cancer, diabetes and ageing. Nat Rev Mol Cell Biol 12(1):21-35.
    • (2011) Nat Rev Mol Cell Biol , vol.12 , Issue.1 , pp. 21-35
    • Zoncu, R.1    Efeyan, A.2    Sabatini, D.M.3
  • 49
    • 79955536349 scopus 로고    scopus 로고
    • Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
    • Peça J, et al. (2011) Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. Nature 472(7344):437-442.
    • (2011) Nature , vol.472 , Issue.7344 , pp. 437-442
    • Peça, J.1
  • 50
    • 22244435217 scopus 로고    scopus 로고
    • Physiological role for casein kinase 1 in glutamatergic synaptic transmission
    • DOI 10.1523/JNEUROSCI.1082-05.2005
    • Chergui K, Svenningsson P, Greengard P (2005) Physiological role for casein kinase 1 in glutamatergic synaptic transmission. J Neurosci 25(28):6601-6609. (Pubitemid 40995292)
    • (2005) Journal of Neuroscience , vol.25 , Issue.28 , pp. 6601-6609
    • Chergui, K.1    Svenningsson, P.2    Greengard, P.3
  • 51
    • 20044390541 scopus 로고    scopus 로고
    • Full activation of PKB/Akt in response to insulin or ionizing radiation is mediated through ATM
    • Viniegra JG, et al. (2005) Full activation of PKB/Akt in response to insulin or ionizing radiation is mediated through ATM. J Biol Chem 280(6):4029-4036.
    • (2005) J Biol Chem , vol.280 , Issue.6 , pp. 4029-4036
    • Viniegra, J.G.1
  • 53
    • 84874104782 scopus 로고    scopus 로고
    • The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
    • 10.1038/ejhg.2012.156
    • Fehr S, et al. (2012) The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet, 10.1038/ejhg.2012.156.
    • (2012) Eur J Hum Genet
    • Fehr, S.1
  • 54
    • 78650903501 scopus 로고    scopus 로고
    • Rett syndrome: Revised diagnostic criteria and nomenclature
    • RettSearch Consortium
    • Neul JL, et al.; RettSearch Consortium (2010) Rett syndrome: Revised diagnostic criteria and nomenclature. Ann Neurol 68(6):944-950.
    • (2010) Ann Neurol , vol.68 , Issue.6 , pp. 944-950
    • Neul, J.L.1


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