| Name | Mitochondrial myopathy and sideroblastic anemia (MLASA) (U:Y) |
| Description | Mutation in PUS1 gene affects an amino acid, that cause a defect in pseudouridylation. Deficient pseudouridylation of mitochondrial tRNAs has been associated to MLASA |
| Related RNA reaction | U:Y |
| Found in RNA | mt-tRNA |
| Modified Transcript | |
| Mapping Technology | |
| Quantification techniques | PCR, Assay-On-Demand, RT-PCR |
| Acronym | Full name | Enzyme Role | Organism | Comment |
|---|---|---|---|---|
| Pus1 | tRNA pseudouridine synthase 1, mitochondrial | Homo sapiens |
| ID | Title | Authors | Journal | Details | ||
|---|---|---|---|---|---|---|
| 1079 | Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathyand sideroblastic anemia (MLASA). | Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N | Am J Hum Genet | [details] | 15108122 | S0002-9297(07)62858-4 |