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Deletion of ARGLU1 causes global defects in alternative splicing in vivo and mouse cortical malformations primarily via apoptosis

Haploinsufficient mutation in arginine and glutamine-rich protein 1 (Arglu1), a newly identified pre-mRNA splicing regulator, may be linked to neural developmental disorders associated with mental retardation and epilepsy in human patients, but the underlying causes remain elusive. Here we show that...

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Detalles Bibliográficos
Autores principales: Yao, Fenyong, Huang, Shisheng, Liu, Jiahui, Tan, Chunhua, Xu, Mengqi, Wang, Dengkui, Huang, Maoqing, Zhu, Yiyao, Huang, Xingxu, He, Shuijin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447433/
https://www.ncbi.nlm.nih.gov/pubmed/37612280
http://dx.doi.org/10.1038/s41419-023-06071-w