Microexon in action: How tiny fragments in a protein tune function, drive disease.

Mol Cell

Institute of Biochemistry and Molecular Biology, National Yang Ming Chiao Tung University, No. 155, Section 2, Li-nong Street, Taipei, Taiwan; Department of Life Sciences and Institute of Genome Sciences, National Yang Ming Chiao Tung University, No. 155, Section 2, Li-nong Street, Taipei, Taiwan; Institute of Biomedical Informatics, National Yang Ming Chiao Tung University, No. 155, Section 2, Li-nong Street, Taipei, Taiwan. Electronic address:

Published: January 2025

Intrinsically disordered regions (IDRs) of proteins can regulate function through phase separation. In a recent article in Nature, Garcia-Cabau et al. reveal that including or excluding a microexon within the IDR of CPEB4 alters its condensation properties, suggesting a potential mechanism underlying autism spectrum disorder..

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http://dx.doi.org/10.1016/j.molcel.2024.12.022DOI Listing

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