Citations for
1MLASA1, PUS1
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M.
BMJ Case Rep 2009. doi:pii: bcr05.2009.1889. 10.1136/bcr.05.2009.1889. Epub 2009 Jun 9. 2009
2MLASA1, PUS1
Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA).
Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N.
Mol Genet Metab 91(2):148-56. Epub 2007 Mar 19. 2007
3MLASA1, PUS1
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, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N.
J Biol Chem 280(20):19823-8. Epub 2005 Mar 16. 2005
4MLASA1, PUS1
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 74(6):1303-8. Epub 2004 Apr 22. 2004
5MLASA1, PUS1
Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33.
Casas K, Bykhovskaya Y, Mengesha E, Wang D, Yang H, Taylor K, Inbal A, Fischel-Ghodsian N.
Am J Med Genet 127A(1):44-9. 2004
6MLASA1, PUS1
Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome.
Inbal A, Avissar N, Shaklai M, Kuritzky A, Schejter A, Ben-David E, Shanske S, Garty BZ.
Am J Med Genet 55(3):372-8. 1995