De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
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ABSTRACT:
SUBMITTER: Jia X
PROVIDER: S-EPMC9385150 | biostudies-literature | 2022 Aug
REPOSITORIES: biostudies-literature
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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia Xiangbin X Zhang Shujie S Tan Senwei S Du Bing B He Mei M Qin Haisong H Chen Jia J Duan Xinyu X Luo Jingsi J Chen Fei F Ouyang Luping L Wang Jian J Chen Guodong G Yu Bin B Zhang Ge G Zhang Zimin Z Lyu Yongqing Y Huang Yi Y Jiao Jian J Chen Jin Yun Helen JYH Swoboda Kathryn J KJ Agolini Emanuele E Novelli Antonio A Leoni Chiara C Zampino Giuseppe G Cappuccio Gerarda G Brunetti-Pierri Nicola N Gerard Benedicte B Ginglinger Emmanuelle E Richer Julie J McMillan Hugh H White-Brown Alexandre A Hoekzema Kendra K Bernier Raphael A RA Kurtz-Nelson Evangeline C EC Earl Rachel K RK Meddens Claartje C Alders Marielle M Fuchs Meredith M Caumes Roseline R Brunelle Perrine P Smol Thomas T Kuehl Ryan R Day-Salvatore Debra-Lynn DL Monaghan Kristin G KG Morrow Michelle M MM Eichler Evan E EE Hu Zhengmao Z Yuan Ling L Tan Jieqiong J Xia Kun K Shen Yiping Y Guo Hui H
Science advances 20220817 33
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 <i>UBAP2L</i>, which encodes an essential regulator of SG assembly. <i>Ubap2l</i> haploinsufficiency in mouse led to social and cognitive impairments accompanied by disrupted neurogenesis and reduced SG formation during ...[more]
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