Summary:

NameMitochondrial myopathy and sideroblastic anemia (MLASA) (U:Y)
DescriptionMutation 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 reactionU:Y
Found in RNAmt-tRNA
Modified Transcript
Mapping Technology
Quantification techniquesPCR, Assay-On-Demand, RT-PCR

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
1079 Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathyand sideroblastic anemia (MLASA). Bykhovskaya Y Am J Hum Genet [details] 15108122 S0002-9297(07)62858-4

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