1 Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K et al. (2004) CaV1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119, 19–31.
2 Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC and Keating MT (2005) Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci USA 102, 8089–8096.
3 Dick IE, Joshi-Mukherjee R, Yang W and Yue DT (2016) Arrhythmogenesis in Timothy syndrome is associated with defects in Ca 2+ -dependent inactivation. Nat Commun 7, 1–12.
4 Bader PL, Faizi M, Kim LH, Owen SF, Tadross MR, Alfa RW, Bett GCL, Tsien RW, Rasmusson RL and Shamloo M (2011) Mouse model of Timothy syndrome recapitulates triad of autistic traits. Proc Natl Acad Sci USA 108, 15432–15437.
5 Rendall AR, Ford AL, Perrino PA and Holly Fitch R (2017) Auditory processing enhancements in the TS2- Neo mouse model of Timothy syndrome, a rare genetic disorder associated with autism spectrum disorders. Adv Neurodev Disord 1, 176–189.
6 Horigane S, Ozawa Y, Yamada H and Takemoto- Kimura S (2019) Calcium signalling: a key regulator of neuronal migration. J Biochem 165, 401–409.
7 Spitzer NC (2006) Electrical activity in early neuronal development. Nature 444, 707–712.
8 Rosenberg SS and Spitzer NC (2011) Calcium signaling in neuronal development. Cold Spring Harb Perspect Biol 3, a004259.
9 Bartolini G, Ciceri G and Mar´ın O (2013) Integration of GABAergic interneurons into cortical cell assemblies: lessons from embryos and adults. Neuron 79, 849–864.
10 Bortone D and Polleux F (2009) KCC2 expression promotes the termination of cortical interneuron migration in a voltage-sensitive calcium-dependent manner. Neuron 62, 53–71.
11 Greer PL and Greenberg ME (2008) From synapse to nucleus: calcium-dependent gene transcription in the control of synapse development and function. Neuron 59, 846–860.
12 Oh WC and Smith KR (2019) Activity-dependent development of GABAergic synapses. Brain Res 1707, 18–26.
13 Rubenstein JLR and Merzenich MM (2003) Model of autism: increased ratio of excitation/inhibition in key neural systems. Genes Brain Behav 2, 255–267.
14 Nelson SB and Valakh V (2015) Excitatory/inhibitory balance and circuit homeostasis in autism spectrum disorders. Neuron 87, 684–698.
15 Kamijo S, Ishii Y, Horigane S, Suzuki K, Ohkura M, Nakai J, Fujii H, Takemoto-Kimura S and Bito H (2018) A critical neurodevelopmental role for L-type voltage-gated calcium channels in neurite extension and radial migration. J Neurosci 38, 5551– 5566.
16 Krey JF, Pa sca SP, Shcheglovitov A, Yazawa M, Schwemberger R, Rasmusson R and Dolmetsch RE (2013) Timothy syndrome is associated with activity- dependent dendritic retraction in rodent and human neurons. Nat Neurosci 16, 201–209.
17 Panagiotakos G, Haveles C, Arjun A, Petrova R, Rana A, Portmann T, Pa sca SP, Palmer TD and Dolmetsch RE (2019) Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome. eLife 8, e51037.
18 Pa sca SP, Portmann T, Voineagu I, Yazawa M, Shcheglovitov A, Pa sca AM, Cord B, Palmer TD, Chikahisa S, Nishino S et al. (2011) Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat Med 17, 1657–1662.
19 Birey F, Andersen J, Makinson CD, Islam S, Wei W, Huber N, Fan HC, Metzler KRC, Panagiotakos G, Thom N et al. (2017) Assembly of functionally integrated human forebrain spheroids. Nature 545, 54–59.
20 Endo T, Maekawa F, Vo~ikar V, Haijima A, Uemura Y, Zhang Y, Miyazaki W, Suyama S, Shimazaki K, Wolfer DP et al. (2011) Automated test of behavioral flexibility in mice using a behavioral sequencing task in IntelliCage. Behav Brain Res 221, 172–181.
21 Endo T, Kakeyama M, Uemura Y, Haijima A, Okuno H, Bito H and Tohyama C (2012) Executive function deficits and social-behavioral abnormality in mice exposed to a low dose of dioxin in utero and via lactation. PLoS One 7, e50741.
22 Zhang Z, Jiao YY and Sun QQ (2011) Developmental maturation of excitation and inhibition balance in principal neurons across four layers of somatosensory cortex. Neuroscience 174, 10–25.
23 Nagai T, Ibata K, Park ES, Kubota M, Mikoshiba K and Miyawaki A (2002) A variant of yellow fluorescent protein with fast and efficient maturation for cell-biological applications. Nat Biotechnol 20, 87–90.
24 Wang Y, Kakizaki T, Sakagami H, Saito K, Ebihara S, Kato M, Hirabayashi M, Saito Y, Furuya N and Yanagawa Y (2009) Fluorescent labeling of both GABAergic and glycinergic neurons in vesicular GABA transporter (VGAT)–venus transgenic mouse. Neuroscience 164, 1031–1043.
25 Dougherty R (2005) Extensions of DAMAS and Benefits and Limitations of Deconvolution in Beamforming. Paper presented at the 11th AIAA/ CEAS Aeroacoustics Conference, Monterey, California. AIAA paper 2005-2961.
26 akeuchi Y, Asano H, Katayama Y, Muragaki Y, Imoto K and Miyata M (2014) Large-scale somatotopic refinement via functional synapse elimination in the sensory thalamus of developing mice. J Neurosci 34, 1258–1270.
27 Fremeau RT, Kam K, Qureshi T, Johnson J, Copenhagen DR, Storm-Mathisen J, Chaudhry FA, Nicoll RA and Edwards RH (2004) Vesicular glutamate transporters 1 and 2 target to functionally distinct synaptic release sites. Science 304, 1815–1819.
28 Benner S, Endo T, Endo N, Kakeyama M and Tohyama C (2014) Early deprivation induces competitive subordinance in C57BL/6 male mice. Physiol Behav 137, 42–52.
29 Pu´scian A, Łezski S, Go´rkiewicz T, Meyza K, Lipp H-P and Knapska E (2014) A novel automated behavioral test battery assessing cognitive rigidity in two genetic mouse models of autism. Front Behav Neurosci 8, 140.
30 Garrett L, Chang YJ, Niedermeier KM, Heermann T, Enard W, Fuchs H, Gailus-Durner V, de Angelis MH, Huttner WB, Wurst W et al. (2020) A truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons. Transl Psychiatry 10, 66.
31 Kuschefski M, Falter-Wagner CM, Bente G, Vogeley K and Georgescu AL (2019) Inferring power and dominance from dyadic nonverbal interactions in autism spectrum disorder. Autism Res 12, 505–516.
32 Ogawa S, Iriguchi M, Lee YA, Yoshikawa S and Goto Y (2019) Atypical social rank recognition in autism spectrum disorder. Sci Rep 9, 15657.
33 Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R et al. (2019) An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Mol Psychiatry https://doi.org/10.1038/s41380-018-0324-x.
34 Saxena K, Webster J, Hallas-Potts A, Mackenzie R, Spooner PA, Thomson D, Kind P, Chatterji S and Morris RGM (2018) Experiential contributions to social dominance in a rat model of fragile-X syndrome. Proc Biol Sci 285, 20180294.
35 Anacker AMJ, Moran JT, Santarelli S, Forsberg CG, Rogers TD, Stanwood GD, Hall BJ, Delpire E, Veenstra-VanderWeele J and Saxe MD (2019) Enhanced social dominance and altered neuronal excitability in the prefrontal cortex of male KCC2b mutant mice. Autism Res 12, 732–743.
36 Tabuchi K, Blundell J, Etherton MR, Hammer RE, Liu X, Powell CM and Sudhof TC (2007) A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science 318, 71–76.
37 Reiner O, Karzbrun E, Kshirsagar A and Kaibuchi K (2016) Regulation of neuronal migration, an emerging topic in autism spectrum disorders. J Neurochem 136, 440–456.
38 Tang ZZ, Sharma S, Zheng S, Chawla G, Nikolic J and Black DL (2011) Regulation of the mutually exclusive exons 8a and 8 in the CaV1.2 calcium channel transcript by polypyrimidine tract-binding protein. J Biol Chem 286, 10007–10016.
39 Takemoto-Kimura S, Suzuki K, Horigane S, Kamijo S, Inoue M, Sakamoto M, Fujii H and Bito H (2017) Calmodulin kinases: essential regulators in health and disease. J Neurochem 141, 808–818.
論文の公開元へ
