(Open access funding provided by Semmelweis University)
Subjects:
Paediatrics
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.
