Shank3 Mice Carrying the Human Q321R Mutation Display Enhanced Self-Grooming, Abnormal Electroencephalogram Patterns, and Suppressed Neuronal Excitability and Seizure Susceptibility.

作者: Ye-Eun Yoo , Taesun Yoo , Seungjoon Lee , Jiseok Lee , Doyoun Kim

DOI: 10.3389/FNMOL.2019.00155

关键词:

摘要: … in a human individual with ASD that affects the ankyrin repeat … mice show abnormal electroencephalogram (EEG) patterns … behavior, EEG patterns, and seizure susceptibility in mice. …

参考文章(122)
Hala Harony-Nicolas, Silvia De Rubeis, Alexander Kolevzon, Joseph D. Buxbaum, Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment. Journal of Child Neurology. ,vol. 30, pp. 1861- 1870 ,(2015) , 10.1177/0883073815600872
J. L. R. Rubenstein, M. M. Merzenich, Model of autism: increased ratio of excitation/inhibition in key neural systems Genes, Brain and Behavior. ,vol. 2, pp. 255- 267 ,(2003) , 10.1034/J.1601-183X.2003.00037.X
Lara J. Duffney, Ping Zhong, Jing Wei, Emmanuel Matas, Jia Cheng, Luye Qin, Kaijie Ma, David M. Dietz, Yuji Kajiwara, Joseph D. Buxbaum, Zhen Yan, Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators Cell Reports. ,vol. 11, pp. 1400- 1413 ,(2015) , 10.1016/J.CELREP.2015.04.064
Audrey Guilmatre, Guillaume Huguet, Richard Delorme, Thomas Bourgeron, The emerging role of SHANK genes in neuropsychiatric disorders Developmental Neurobiology. ,vol. 74, pp. 113- 122 ,(2014) , 10.1002/DNEU.22128
Tobias M. Boeckers, Michael R. Kreutz, Carsten Winter, Werner Zuschratter, Karl-Heinz Smalla, Lydia Sanmarti-Vila, Heike Wex, Kristina Langnaese, Juergen Bockmann, Craig C. Garner, Eckart D. Gundelfinger, Proline-Rich Synapse-Associated Protein-1/Cortactin Binding Protein 1 (ProSAP1/CortBP1) Is a PDZ-Domain Protein Highly Enriched in the Postsynaptic Density The Journal of Neuroscience. ,vol. 19, pp. 6506- 6518 ,(1999) , 10.1523/JNEUROSCI.19-15-06506.1999
J. Bockmann, M. R. Kreutz, E. D. Gundelfinger, T. M. Böckers, ProSAP/Shank postsynaptic density proteins interact with insulin receptor tyrosine kinase substrate IRSp53. Journal of Neurochemistry. ,vol. 83, pp. 1013- 1017 ,(2002) , 10.1046/J.1471-4159.2002.01204.X
Carlo Sala, Cinzia Vicidomini, Ilaria Bigi, Adele Mossa, Chiara Verpelli, Shank synaptic scaffold proteins: keys to understanding the pathogenesis of autism and other synaptic disorders. Journal of Neurochemistry. ,vol. 135, pp. 849- 858 ,(2015) , 10.1111/JNC.13232
Yunrui Du, Scott A. Weed, Wen-Cheng Xiong, Trudy D. Marshall, J. Thomas Parsons, Identification of a Novel Cortactin SH3 Domain-Binding Protein and Its Localization to Growth Cones of Cultured Neurons Molecular and Cellular Biology. ,vol. 18, pp. 5838- 5851 ,(1998) , 10.1128/MCB.18.10.5838
Haley E Speed, Mehreen Kouser, Zhong Xuan, Jeremy M Reimers, Christine F Ochoa, Natasha Gupta, Shunan Liu, Craig M Powell, Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits The Journal of Neuroscience. ,vol. 35, pp. 9648- 9665 ,(2015) , 10.1523/JNEUROSCI.3125-14.2015
Eunjoon Kim, M Sheng, The Shank family of scaffold proteins Journal of Cell Science. ,vol. 113, pp. 1851- 1856 ,(2000) , 10.1242/JCS.113.11.1851