| 1 | PUS1
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| Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirements.
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| Sibert BS, Patton JR.
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| Nucleic Acids Res 40(5):2107-18. doi: 10.1093/nar/gkr1017. Epub 2011 Nov 18.
2012
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| 2 | MLASA1, PUS1
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| Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
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| Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M.
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| BMJ Case Rep 2009. doi:pii: bcr05.2009.1889. 10.1136/bcr.05.2009.1889. Epub 2009 Jun 9.
2009
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| 3 | PUS1
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| Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1.
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| Sibert BS, Fischel-Ghodsian N, Patton JR.
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| RNA 14(9):1895-906. doi: 10.1261/rna.984508. Epub 2008 Jul 22.
2008
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| 4 | MLASA1, PUS1
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| Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA).
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| Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N.
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| Mol Genet Metab 91(2):148-56. Epub 2007 Mar 19.
2007
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| 5 | PUS1, PUS3, SRA1
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| Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling.
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| Zhao X, Patton JR, Ghosh SK, Fischel-Ghodsian N, Shen L, Spanjaard RA.
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| Mol Endocrinol 21(3):686-99. Epub 2006 Dec 14.
2007
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| 6 | MLASA1, PUS1
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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.
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| Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N.
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| J Biol Chem 280(20):19823-8. Epub 2005 Mar 16. 2005
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| 7 | MLASA1, PUS1
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| Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA).
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| Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N.
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| Am J Hum Genet 74(6):1303-8. Epub 2004 Apr 22. 2004
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| 8 | MLASA1, PUS1
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| Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33.
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| Casas K, Bykhovskaya Y, Mengesha E, Wang D, Yang H, Taylor K, Inbal A, Fischel-Ghodsian N.
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| Am J Med Genet 127A(1):44-9. 2004
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| 9 | PUS1
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| Cloning and characterization of a mammalian pseudouridine synthase.
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| Chen J, Patton JR.
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| RNA 5(3):409-19. 1999
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| 10 | MLASA1, PUS1
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| Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome.
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| Inbal A, Avissar N, Shaklai M, Kuritzky A, Schejter A, Ben-David E, Shanske S, Garty BZ.
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| Am J Med Genet 55(3):372-8. 1995
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