Summary:

NameMitochondrial myopathy and sideroblastic anemia (MLASA) (U:Y)
DescriptionLAck of modifications in mitochondrial and cytoplasmic tRNAs from MLASA patients at sites normally modified by Pus1p.
Related RNA reactionU:Y
Found in RNAtRNA
Modified TranscripttRNA-Ser, tRNA-Lys
Mapping Technology
Quantification techniquesPCR, TLC

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
Pus1 tRNA pseudouridine synthase 1, mitochondrial Homo sapiens
 

Publications:

ID Title Authors Journal Details PubMed Id DOI
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

Copyright © Genesilico - All rights reserved
If you have any advice or suggestions for corrections or improvements, please contact: Andrea Cappannini - lp.vog.bcmii@ininnappaca