Gene Review:
PUS1 - pseudouridylate synthase 1
Homo sapiens
Synonyms:
PP8985, tRNA pseudouridine synthase A, mitochondrial, tRNA pseudouridine(38-40) synthase, tRNA pseudouridylate synthase I, tRNA-uridine isomerase I
- Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Bykhovskaya, Y., Casas, K., Mengesha, E., Inbal, A., Fischel-Ghodsian, N. Am. J. Hum. Genet. (2004)
- Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. Patton, J.R., Bykhovskaya, Y., Mengesha, E., Bertolotto, C., Fischel-Ghodsian, N. J. Biol. Chem. (2005)
- Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. Zeharia, A., Fischel-Ghodsian, N., Casas, K., Bykhocskaya, Y., Tamari, H., Lev, D., Mimouni, M., Lerman-Sagie, T. J. Child Neurol. (2005)
- Cloning and characterization of a mammalian pseudouridine synthase. Chen, J., Patton, J.R. RNA (1999)