Dysregulated RNA-binding proteins and alternative splicing: Emerging roles in autism spectrum disorder

초록

"Dysregulation of gene expression can lead to abnormal brain function, with alternative splicing playing a crucial role in proper brain development. Emerging evidence suggests that dysregulated RNA-binding proteins (RBPs) contribute to aberrant splicing patterns, disrupting neuronal processes and increasing susceptibility to neurodevelopmental disorders such as autism spectrum disorder (ASD). Understanding how misregulated RBPs alter splicing mechanisms is crucial for elucidating their role in ASD pathogenesis. Additionally, this knowledge is essential for developing targeted therapeutic strategies aimed at correcting splicing-related abnormalities. This review highlights recent advancements in our understanding of the interplay between RBPs and alternative splicing in ASD and explores promising RNA-targeting therapeutic approaches. © 2025 The Authors

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