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2005 | 1 |
2017 | 1 |
2024 | 0 |
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Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.
J Biol Chem. 2005 May 20;280(20):19823-8. doi: 10.1074/jbc.M500216200. Epub 2005 Mar 16.
J Biol Chem. 2005.
PMID: 15772074
Free article.
The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules.
Zaganelli S, Rebelo-Guiomar P, Maundrell K, Rozanska A, Pierredon S, Powell CA, Jourdain AA, Hulo N, Lightowlers RN, Chrzanowska-Lightowlers ZM, Minczuk M, Martinou JC.
Zaganelli S, et al.
J Biol Chem. 2017 Mar 17;292(11):4519-4532. doi: 10.1074/jbc.M116.771105. Epub 2017 Jan 12.
J Biol Chem. 2017.
PMID: 28082677
Free PMC article.
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