| Name | Mitochondrial myopathy and sideroblastic anemia (MLASA) (U:Y) |
| Description | LAck of modifications in mitochondrial and cytoplasmic tRNAs from MLASA patients at sites normally modified by Pus1p. |
| Related RNA reaction | U:Y |
| Found in RNA | tRNA |
| Modified Transcript | tRNA-Ser, tRNA-Lys |
| Mapping Technology | |
| Quantification techniques | PCR, TLC |
| Acronym | Full name | Enzyme Role | Organism | Comment |
|---|---|---|---|---|
| Pus1 | tRNA pseudouridine synthase 1, mitochondrial | Homo sapiens |
| ID | Title | Authors | Journal | Details | ||
|---|---|---|---|---|---|---|
| 816 | Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. | Patton JR | J Biol Chem | [details] | 15772074 | S0021-9258(20)61767-7 |