NameIntellectual disability (U:Y)
DescriptionA significant reduction in post-transcriptional pseudouridine modification of tRNA in patient cells has occurred.
Related RNA reactionU:Y
Found in RNAtRNA
Modified TranscripttRNA-Phe
Mapping TechnologyNone
Quantification techniquesHPLC

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
PUS3 tRNA pseudouridine(38/39) synthase None Homo sapiens


ID Title Authors Journal Details PubMed Id DOI

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