De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We report a new neurodevelopmental disorder (NDD) with common features of language problems, intellectual disability, and behavioral issues caused by de novo likely gene-disruptive variants in UBAP2L , which enco...

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Main Authors: Xiangbin Jia, S. Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Jian Jiao, Jin Yun Chen, Kathryn J. Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Bénédicte Gérard, Emmanuelle Ginglinger, Julie Richer, Hugh J. McMillan, Alexandre White‐Brown, Kendra Hoekzema, Raphael Bernier, Evangeline C. Kurtz‐Nelson, Rachel K. Earl, Claartje Meddens, Mariëlle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G. Monaghan, Michelle M. Morrow, Evan E. Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo
Format: Artigo
Language:English
Published: 2022
Online Access:https://doi.org/10.1126/sciadv.abo7112
https://www.science.org/doi/pdf/10.1126/sciadv.abo7112?download=true
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https://doi.org/10.1126/sciadv.abo7112
https://www.science.org/doi/pdf/10.1126/sciadv.abo7112?download=true

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