| 1 | MLASA1, 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
|
| 2 | MLASA1, 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
|
| 3 | MLASA1, 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
|
| 4 | MLASA1, 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
|
| 5 | MLASA1, 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
|
| 6 | MLASA1, 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
|