RNA dysregulation in neurodegenerative diseases

The EMBO Journal, Journal Year: 2025, Volume and Issue: 44(3), P. 613 - 638

Published: Jan. 9, 2025

Dysregulation of RNA processing has in recent years emerged as a significant contributor to neurodegeneration. The diverse mechanisms and molecular functions underlying underscore the essential role regulation maintaining neuronal health function. molecules are bound by RNA-binding proteins (RBPs), interactions between RNAs RBPs commonly affected In this review, we highlight progress understanding dysregulated RNA-processing pathways causes RBP dysfunction across various neurodegenerative diseases. We discuss both established emerging RNA-mediated neuropathogenesis rapidly evolving field. Furthermore, explore development potential RNA-targeting therapeutic approaches for treatment

Language: Английский

Protocol to study the effects of mutations near splicing sites on pre-mRNA splicing

STAR Protocols, Journal Year: 2025, Volume and Issue: 6(1), P. 103673 - 103673

Published: March 1, 2025

Mutations at RNA splicing sites or regulatory elements can alter efficiency patterns, affecting functionality and tissue-specific expression. Here, we present a protocol to study the impact of mutations near on precursor mRNA (pre-mRNA) splicing. We describe steps for constructing plasmids by cloning target gene into pEGFP-N1 vector, performing site-directed mutagenesis, transiently transfecting HEK293 cells. then detail procedures conducting mini-gene assays analyze patterns influenced mutations. For complete details use execution this protocol, please refer Peng et al.1.

Language: Английский