Pseudouridine (Ψ) is the most abundant post-transcriptional RNA modification and is widespread in multiple RNA species. Ψ impacts various aspects of RNA biology, conferring distinct structural and functional properties to the RNA molecules that it decorates. However, aberrant pseudouridylation contributes to a variety of human diseases, including cancer and genetic disorders. Dysregulation of the Ψ epitranscriptome can arise from mutations and abnormal expression of pseudouridylation machinery, impacting protein translation and other cellular processes. With advancing understanding of Ψ roles in health and disease, efforts are now invested in developing therapeutic and diagnostic approaches targeting Ψ. Emerging reports indicate that Ψ and its installation machinery could be potential pharmacological targets for therapeutic development and may serve as biomarkers for human diseases.
Keywords: PUS; RNA modifications; biomarker; cancer therapy; m(6)A; pseudouridine.
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