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Article

Deficiency of DDX3X results in neurogenesis defects and abnormal behaviors via dysfunction of the Notch signaling.

Proceedings of the National Academy of Sciences of the United States of America - 5 Nov 2024

Duan Weicheng, Huang Guiyang, Sui Yang, Wang Kang, Yu Yuxin, Chu Xufeng, Cao Xu, Chen Liangpei, Liu Jiahui, Eichler Evan E, Xiong Bo

Abstract excerpt

The molecular mechanisms underlying the neurodevelopmental disorders (NDDs) caused by DDX3X variants remain poorly understood. In this study, we validated that de novo DDX3X variants are enriched in female developmental delay (DD) patients and mainly affect the evolutionarily conserved amino acids based on a meta-analysis of 46,612 NDD trios. We generated a ddx3x deficient zebrafish allele, which exhibited...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39471229
DOI: 10.1073/pnas.2404173121
PMCID: PMC11551356

Genes

DDX3X

Provenance

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