Summary:

NameIntellectual disability and progressive microcephaly (U:Y)
DescriptionPUS7 mutations result in decreased levels of Ψ13 modifications in tRNAs
Related RNA reactionU:Y
Found in RNAtRNA
Modified TranscripttRNA-Val
Mapping TechnologyHPLC, Primer extention
Quantification techniquesPrimer extention

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
PUS7 pseudouridine synthase 7 None Homo sapiens
 

Publications:

ID Title Authors Journal Details PubMed Id DOI
1058 PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly. Ranad Shaheen Hum Genet [details] 30778726 10.1007/s00439-019-01980-3

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