Alternative Splicing: Molecular Mechanisms, Biological Functions, Diseases, and Potential Therapeutic Targets

Zhi‐Min Zhu, Xiao‐Mei Wu, Yan Hu, Xiao‐Lan Bian, Ya‐Qin Wang, Qiong‐Ni Zhu · 2025

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Description

Zhi-Min Zhu and co-authors review alternative splicing, the editing step that lets one gene yield many proteins. Published in 2025, the review gathers the machinery: the spliceosome's moving parts, RNA shapes like G-quadruplexes that steer choices, and droplets of splicing factors that gather by phase separation inside the nucleus. A unified frame linking mechanism to therapy was missing, the authors say.

Splicing tunes development, immunity, and stress response, and its errors drive disease, from splice factor mutant cancers to brain degeneration and heart trouble. Therapies that patch bad splicing, small molecules among them, are appraised. The review closes by mapping where mechanism knowledge can turn into drug targets.

Catalog record

CREATORZhi‐Min Zhu, Xiao‐Mei Wu, Yan Hu, Xiao‐Lan Bian, Ya‐Qin Wang, Qiong‐Ni Zhu
YEAR2025
COLLECTIONPAPERS
FORMATTXT
FILE SIZE119 KB
VERSION1.0
LICENSECC BY 4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/articles/PMC12701963

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