Li R - Search Results

1

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.

Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S. Simon M, et al. Among authors: li r. PLoS Genet. 2015 Mar 25;11(3):e1005097. doi: 10.1371/journal.pgen.1005097. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25807530 Free PMC article.

2

Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.

Li R, Guan MX. Li R, et al. Mol Cell Biol. 2010 May;30(9):2147-54. doi: 10.1128/MCB.01614-09. Epub 2010 Mar 1. Mol Cell Biol. 2010. PMID: 20194621 Free PMC article.

3

Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation.

Li X, Li R, Lin X, Guan MX. Li X, et al. Among authors: li r. J Biol Chem. 2002 Jul 26;277(30):27256-64. doi: 10.1074/jbc.M203267200. Epub 2002 May 14. J Biol Chem. 2002. PMID: 12011058 Free article.

4

Genomic organization, expression, and subcellular localization of mouse mitochondrial seryl-tRNA synthetase.

Gibbons WJ Jr, Yan Q, Li R, Li X, Guan MX. Gibbons WJ Jr, et al. Among authors: li x, li r. Biochem Biophys Res Commun. 2004 May 7;317(3):774-8. doi: 10.1016/j.bbrc.2004.03.113. Biochem Biophys Res Commun. 2004. PMID: 15081407

5

Correction for Li and Guan, "Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNA^Leu(UUR) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes".

Li R, Guan MX. Li R, et al. Mol Cell Biol. 2017 Aug 28;37(18):e00335-17. doi: 10.1128/MCB.00335-17. Print 2017 Sep 15. Mol Cell Biol. 2017. PMID: 28847973 Free PMC article. No abstract available.

6

Identification and characterization of mouse MTO1 gene related to mitochondrial tRNA modification.

Li R, Li X, Yan Q, Qin Mo J, Guan MX. Li R, et al. Among authors: li x. Biochim Biophys Acta. 2003 Oct 1;1629(1-3):53-9. doi: 10.1016/s0167-4781(03)00160-x. Biochim Biophys Acta. 2003. PMID: 14522080

7

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.

Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX. Zhao H, et al. Among authors: li r. Am J Hum Genet. 2004 Jan;74(1):139-52. doi: 10.1086/381133. Epub 2003 Dec 12. Am J Hum Genet. 2004. PMID: 14681830 Free PMC article.

8

Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family.

Li R, Ishikawa K, Deng JH, Heman-Ackah S, Tamagawa Y, Yang L, Bai Y, Ichimura K, Guan MX. Li R, et al. Biochem Biophys Res Commun. 2005 Mar 4;328(1):32-7. doi: 10.1016/j.bbrc.2004.12.140. Biochem Biophys Res Commun. 2005. PMID: 15670746

9

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. Among authors: li r. 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

10

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. Among authors: li x, li r. 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.

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