The importance of pseudouridylation: human disorders related to the fifth nucleoside
M Keszthelyi, Kálmán Tory
Abstract
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 described to date that are related to the participants of the pseudouridylation process.
Topics & Concepts
PseudouridineNucleosideRNAComputational biologyCoding (social sciences)BiologyBioinformaticsGeneticsTransfer RNAComputer scienceGeneSociologySocial scienceRNA modifications and cancerRNA regulation and diseasePeptidase Inhibition and Analysis