| 1 | GRM1, TRMU
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| The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.
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| Davarniya B, Hu H, Kahrizi K, Musante L, Fattahi Z, Hosseini M, Maqsoud F, Farajollahi R, Wienker TF, Ropers HH, Najmabadi H.
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| PLoS One 10(8):e0129631. doi: 10.1371/journal.pone.0129631. eCollection 2015.
2015
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| 2 | AILF, TRMU
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| Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.
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| Gaignard P, Gonzales E, Ackermann O, Labrune P, Correia I, Therond P, Jacquemin E, Slama A.
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| JIMD Rep IMD Rep. 2013 Apr 27. [Epub ahead of print]
2013
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| 3 | AILF, MMIT, TRMU, TRNE
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| Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
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| Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J.
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| J Med Genet 48(10):660-8. doi: 10.1136/jmg.2011.089995.
2011
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| 4 | AILF, TRMU
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| The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.
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| Sasarman F, Antonicka H, Horvath R, Shoubridge EA.
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| Hum Mol Genet 20(23):4634-43. doi: 10.1093/hmg/ddr397. Epub 2011 Sep 1.
2011
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| 5 | AILF, TRMU
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| Mitochondrial hepatopathies in the newborn period.
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| Fellman V, Kotarsky H.
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| Semin Fetal Neonatal Med 16(4):222-8. doi: 10.1016/j.siny.2011.05.002. Epub 2011 Jun 15. Review.
2011
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| 6 | AILF, TRMU
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| Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.
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| Schara U, von Kleist-Retzow JC, Lainka E, Gerner P, Pyle A, Smith PM, Lochmüller H, Czermin B, Abicht A, Holinski-Feder E, Horvath R.
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| J Inherit Metab Dis 34(1):197-201. doi: 10.1007/s10545-010-9250-z. Epub 2010 Dec 10.
2011
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| 7 | AILF, TRMU
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| Acute infantile liver failure due to mutations in the TRMU gene.
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| Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rötig A, Tarassov I, Elpeleg O.
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| Am J Hum Genet 85(3):401-7.
2009
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| 8 | MTO1, TRMU
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| Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment.
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| de Moraes VC, Alexandrino F, Andrade PB, Câmara MF, Sartorato EL.
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| Biochem Biophys Res Commun 381(2):210-3. Epub 2009 Feb 12.
2009
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| 9 | TRMU, MTDFN1
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| Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
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| Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N.
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| Am J Hum Genet 79(2):291-302. Epub 2006 Jun 22. 2006
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| 10 | TRMU, MTDFN1
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| Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.
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| Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, Fischel-Ghodsian N, Guan MX.
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| Biochem Biophys Res Commun 342(4):1130-6. Epub 2006 Feb 23. 2006
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| 11 | TRMU
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| Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA.
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| Yan Q, Li X, Faye G, Guan MX.
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| J Biol Chem 280(32):29151-7. Epub 2005 Jun 8.
2005
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| 12 | TRMU
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| Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase.
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| Yan Q, Guan MX.
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| Biochim Biophys Acta 1676(2):119-26. 2004
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