Similar articles for PMID: 28049726

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1

Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.

Meng F, Cang X, Peng Y, Li R, Zhang Z, Li F, Fan Q, Guan AS, Fischel-Ghosian N, Zhao X, Guan MX. Meng F, et al. J Biol Chem. 2017 Feb 17;292(7):2881-2892. doi: 10.1074/jbc.M116.749374. Epub 2017 Jan 3. J Biol Chem. 2017. PMID: 28049726 Free PMC article.

2

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

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. Guan MX, et al. Am J Hum Genet. 2006 Aug;79(2):291-302. doi: 10.1086/506389. Epub 2006 Jun 22. Am J Hum Genet. 2006. PMID: 16826519 Free PMC article.

3

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.

Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, Fischel-Ghodsian N, Guan MX. Yan Q, et al. Biochem Biophys Res Commun. 2006 Apr 21;342(4):1130-6. doi: 10.1016/j.bbrc.2006.02.078. Epub 2006 Feb 23. Biochem Biophys Res Commun. 2006. PMID: 16513084

4

Contribution of the tRNA^Ile 4317A→G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A→G mutation.

Meng F, He Z, Tang X, Zheng J, Jin X, Zhu Y, Ren X, Zhou M, Wang M, Gong S, Mo JQ, Shu Q, Guan MX. Meng F, et al. J Biol Chem. 2018 Mar 2;293(9):3321-3334. doi: 10.1074/jbc.RA117.000530. Epub 2018 Jan 18. J Biol Chem. 2018. PMID: 29348176 Free PMC article.

5

Deletion of Mtu1 (Trmu) in zebrafish revealed the essential role of tRNA modification in mitochondrial biogenesis and hearing function.

Zhang Q, Zhang L, Chen D, He X, Yao S, Zhang Z, Chen Y, Guan MX. Zhang Q, et al. Nucleic Acids Res. 2018 Nov 16;46(20):10930-10945. doi: 10.1093/nar/gky758. Nucleic Acids Res. 2018. PMID: 30137487 Free PMC article.

6

Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNA^His mutation.

Gong S, Wang X, Meng F, Cui L, Yi Q, Zhao Q, Cang X, Cai Z, Mo JQ, Liang Y, Guan MX. Gong S, et al. J Biol Chem. 2020 Jan 24;295(4):940-954. doi: 10.1074/jbc.RA119.010998. Epub 2019 Dec 9. J Biol Chem. 2020. PMID: 31819004 Free PMC article.

7

Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients.

Chen C, Guan MX. Chen C, et al. Hum Mol Genet. 2022 Sep 10;31(18):3068-3082. doi: 10.1093/hmg/ddac096. Hum Mol Genet. 2022. PMID: 35467742

8

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.

Boczonadi V, Smith PM, Pyle A, Gomez-Duran A, Schara U, Tulinius M, Chinnery PF, Horvath R. Boczonadi V, et al. Hum Mol Genet. 2013 Nov 15;22(22):4602-15. doi: 10.1093/hmg/ddt309. Epub 2013 Jun 28. Hum Mol Genet. 2013. PMID: 23814040 Free PMC article.

9

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.

Yan Q, Li X, Faye G, Guan MX. Yan Q, et al. J Biol Chem. 2005 Aug 12;280(32):29151-7. doi: 10.1074/jbc.M504247200. Epub 2005 Jun 8. J Biol Chem. 2005. PMID: 15944150 Free PMC article.

10

Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.

Lu J, Qian Y, Li Z, Yang A, Zhu Y, Li R, Yang L, Tang X, Chen B, Ding Y, Li Y, You J, Zheng J, Tao Z, Zhao F, Wang J, Sun D, Zhao J, Meng Y, Guan MX. Lu J, et al. Mitochondrion. 2010 Jan;10(1):69-81. doi: 10.1016/j.mito.2009.09.007. Epub 2009 Oct 8. Mitochondrion. 2010. PMID: 19818876 Free PMC article.

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