| 1 | GTPBP3, GTPBP3D |
| Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy. | |
| Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H. | |
| Am J Hum Genet 95(6):708-20. doi: 10.1016/j.ajhg.2014.10.017. Epub 2014 Nov 26. 2014 | |
| 2 | GTPBP3 |
| Characterization of human GTPBP3, a GTP-binding protein involved in mitochondrial tRNA modification. | |
| Villarroya M, Prado S, Esteve JM, Soriano MA, Aguado C, Pérez-Martínez D, Martínez-Ferrandis JI, Yim L, Victor VM, Cebolla E, Montaner A, Knecht E, Armengod ME. | |
| Mol Cell Biol 28(24):7514-31. Epub 2008 Oct 13.PMID: 18852288 2008 | |
| 3 | GTPBP3, MTO1 |
| Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. | |
| Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N. | |
| Mol Genet Metab 83(3):199-206. 2004 | |
| 4 | GTPBP3 |
| Identification and characterization of mouse GTPBP3 gene encoding a mitochondrial GTP-binding protein involved in tRNA modification. | |
| Li X, Guan MX. | |
| Biochem Biophys Res Commun 312(3):747-54. 2003 | |
| 5 | GTPBP3 |
| A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation. | |
| Li X, Guan MX. | |
| Mol Cell Biol 22(21):7701-11. 2002 | |