Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Guo, Hui; Li, Ying; Shen, Lu; Wang, Tianyun; Jia, Xiangbin; Liu, Lijuan; Xu, Tao; Ou, Mengzhu; Hoekzema, Kendra; Wu, Huidan; A. Gillentine, Madelyn; Liu, Cenying; Ni, Hailun; Peng, Pengwei; Zhao, Rongjuan; Zhang, Yu; Phornphutkul, Chanika; P.A. Stegmann, Alexander; E. Prada, Carlos; J. Hopkin, Robert; T.C. Shieh, Joseph; McWalter, Kirsty; G. Monaghan, Kristin; M. van Hasselt, Peter; L.I. van Gassen, Koen; Bai, Ting; Min, Long; Han, Lin; Quan, Yingting; Chen, Meilin; Zhang, Yaowen; Li, Kuokuo; Zhang, Qiumeng; Tan, Jieqiong; Zhu, Tengfei; Liu, Yaning; Pang, Nan; Peng, Jing; A. Scott, Daryl; R. Lalani, Seema; S. Azamian, Mahshid; M.S. Mancini, Grazia; J. Adams, Darius; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Pevsner, Jonathan; Osei‐Owusu, Ikeoluwa; Romano, Corrado; Calabrese, Giuseppe; Galesi, Ornella; Gécz, Jozef; Haan, Eric; D. Ranells, Judith; Racobaldo, Melissa; Nordenskjöld, Magnus; Madan‐Khetarpal, Suneeta; Sebastian, Jessica; Ball, Susie; Zou, Xiaobing; Zhao, Jingping; Hu, Zhengmao; Xia, Fan; Liu, Pengfei; A. Rosenfeld, Jill; B.A. de Vries, Bert; Bernier, Raphael; Xu, Qing; Li, Honghui; Xie, Wei; B. Hufnagel, Robert; E. Eichler, Evan; Xia, Kun

doi:10.1126/sciadv.aax2166

Public

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Published in Science Advances • Sep 6, 2019

Authors:

Hui Guo

Ying Li

Lu Shen

Abstract

result in defects in synapse growth and synaptic transmission. Our study defines a new autism-related syndrome and highlights the functional role of CSDE1 in synapse development and synaptic transmission.

Subject

Autism

Neuroscience

Neurotransmission

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