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Article

Mis-splicing of a neuronal microexon promotes CPEB4 aggregation in ASD

4 Dec 2024

Abstract excerpt

The inclusion of microexons by alternative splicing occurs frequently in neuronal proteins. The roles of these sequences are largely unknown, and changes in their degree of inclusion are associated with neurodevelopmental disorders1. We have previously shown that decreased inclusion of a 24-nucleotide neuron-specific microexon in CPEB4, a RNA-binding protein that regulates translation through cytoplasmic changes...

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PMID: 39633052
DOI: 10.1038/s41586-024-08289-w

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