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Article

The importance of pseudouridylation: human disorders related to the fifth nucleoside

31 Mar 2023

Abstract excerpt

Pseudouridylation is one of the most abundant RNA modifications in eukaryotes, making pseudouridine known as the "fifth nucleoside." This highly conserved alteration affects all non-coding and coding RNA types. Its role and importance have been increasingly widely researched, especially considering that its absence or damage leads to serious hereditary diseases. Here, we summarize the human genetic disorders...

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PMID: 37000312
DOI: 10.1007/s42977-023-00158-3

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