Summary:
| Name | Intellectual disability (U:Y) |
| Description | A significant reduction in post-transcriptional pseudouridine modification of tRNA in patient cells has occurred. |
| Related RNA reaction | U:Y |
| Found in RNA | tRNA |
| Modified Transcript | tRNA-Phe |
| Mapping Technology | None |
| Quantification techniques | HPLC |
Enzymes connected to this disease:
| Acronym |
Full name |
Enzyme Role |
Organism |
| PUS3 |
tRNA pseudouridine(38/39) synthase |
None |
Homo sapiens |
|
Publications:
| ID |
Title |
Authors |
Journal |
Details |
PubMed Id |
DOI |
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