mRNA stability is emerging as a fundamental and effective cellular tool to regulate gene expression at posttranscriptional levels. mRNA stability is controlled via orchestrated interactions between mRNA structural components (cis-elements) and specific trans-acting factors. The most widespread and efficient determinant of RNA stability are the adenylate and uridylate-rich elements (ARE) that, through binding of ARE-binding proteins (AUBPs), modulate the stability of transcripts and/or their translation. Alterations in any of these components can lead to disease. Here, we review the genetic alterations in 3’UTR regulatory sequences as well as the aberrant levels, subcellular localization, and posttranslational modifications of AUBPs that are linked to human diseases. A thorough understanding of these alterations and their impact on mRNA stability regulation will uncover promising new targets for therapeutic intervention.
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