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

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

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number2166
Number of pages16
JournalScience advances
Volume5
Issue number9
DOIs
Publication statusPublished - Sep 2019

Keywords

  • MENTAL-RETARDATION PROTEIN
  • FRAGILE-X-SYNDROME
  • DE-NOVO MUTATION
  • MESSENGER-RNA
  • DROSOPHILA
  • GENES
  • RISK
  • IDENTIFICATION
  • ARCHITECTURE
  • TRANSLATION

Cite this

Guo, H., Li, Y., Shen, L., Wang, T., Jia, X., Liu, L., Xu, T., Ou, M., Hoekzema, K., Wu, H., Gillentine, M. A., Liu, C., Ni, H., Peng, P., Zhao, R., Zhang, Y., Phornphutkul, C., Stegmann, A. P. A., Prada, C. E., ... Xia, K. (2019). Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Science advances, 5(9), [2166]. https://doi.org/10.1126/sciadv.aax2166