Alternative Splicing in Autism Spectrum Disorder: Recent Insights from Mechanisms to Therapy

Asian Journal of Psychiatry, Journal Year: 2025, Volume and Issue: unknown, P. 104501 - 104501

Published: April 1, 2025

Alternative splicing (AS) is a vital and highly dynamic RNA regulatory mechanism that allows single gene to generate multiple mRNA protein isoforms. Dysregulation of AS has been identified as key contributor the pathogenesis autism spectrum disorders (ASD). A comprehensive understanding aberrant mechanisms their functional consequences in ASD can help uncover molecular basis disorder facilitate development therapeutic strategies. This review focuses on major events regulators associated with ASD, highlighting roles linking defective pathogenesis. In addition, discussion how emerging technologies, such long-read sequencing, single-cell spatial transcriptomics CRISPR-Cas systems are offering novel insights into role presented. Finally, splicing-based strategies evaluated, emphasizing potential address unmet clinical needs treatment.

Language: Английский

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Angel Wing: a class of alternative splicing regulators in animals

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2025, Volume and Issue: unknown

Published: April 22, 2025

Abstract Alternative splicing (AS) regulates the diversity and level of proteome. The specificity in AS is turn regulated by RNA binding proteins, but our understanding how they act far from complete. Here we identify Angel wing (Anw) protein as a novel regulator. Loss Anw Drosophila disrupts muscle genes subsequently function. Based on mini-gene assay which its targets are co-expressed cultured cells, demonstrated orthologous regulation minigene transcripts, interaction between targets, remarkable functional conservation among homologs. forms nuclear foci, genetic ablation domains suggests that maintaining distinctive features these foci important for evolution dynamic with gene gains losses, preserves cross-phyla “ultra conserved element” an alternative exon potentially own non-sense mediated mRNA decay. As human anw homolog candidate myasthenia gravis, work mechanism cellular dysfunction this disease.

Language: Английский

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Safari in the RNA world: a special issue focused on RNA biogenesis, functions, and technologies

Acta Biochimica et Biophysica Sinica, Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 17, 2024

Language: Английский

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