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Items: 28


Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007098. doi: 10.1212/WNL.0000000000007098. [Epub ahead of print]


Plasmodium apicoplast tyrosyl-tRNA synthetase recognizes an unusual, simplified identity set in cognate tRNATyr.

Cela M, Paulus C, Santos MAS, Moura GR, Frugier M, Rudinger-Thirion J.

PLoS One. 2018 Dec 28;13(12):e0209805. doi: 10.1371/journal.pone.0209805. eCollection 2018.


The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings AJ, Simons A, Schaap N, Roodenburg RJ, Kleefstra T, Arenillas L, Fita-Torró J, Ahmed R, Abboud M, Bechara E, Farah R, Tamminga RY, Bottomley SS, Sanchez M, Swinkels DW, Christodoulou J, Fleming MD.

Haematologica. 2018 Jul 19. pii: haematol.2017.182659. doi: 10.3324/haematol.2017.182659. [Epub ahead of print]


LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

Riley LG, Rudinger-Thirion J, Schmitz-Abe K, Thorburn DR, Davis RL, Teo J, Arbuckle S, Cooper ST, Campagna DR, Frugier M, Markianos K, Sue CM, Fleming MD, Christodoulou J.

JIMD Rep. 2016;28:49-57. Epub 2015 Nov 5.


Elaborate uORF/IRES features control expression and localization of human glycyl-tRNA synthetase.

Alexandrova J, Paulus C, Rudinger-Thirion J, Jossinet F, Frugier M.

RNA Biol. 2015;12(12):1301-13. doi: 10.1080/15476286.2015.1086866.


Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Riley LG, Menezes MJ, Rudinger-Thirion J, Duff R, de Lonlay P, Rotig A, Tchan MC, Davis M, Cooper ST, Christodoulou J.

Orphanet J Rare Dis. 2013 Dec 17;8:193. doi: 10.1186/1750-1172-8-193.


Aminoacylation of Plasmodium falciparum tRNA(Asn) and insights in the synthesis of asparagine repeats.

Filisetti D, Théobald-Dietrich A, Mahmoudi N, Rudinger-Thirion J, Candolfi E, Frugier M.

J Biol Chem. 2013 Dec 20;288(51):36361-71. doi: 10.1074/jbc.M113.522896. Epub 2013 Nov 6.


Misfolded human tRNA isodecoder binds and neutralizes a 3' UTR-embedded Alu element.

Rudinger-Thirion J, Lescure A, Paulus C, Frugier M.

Proc Natl Acad Sci U S A. 2011 Oct 4;108(40):E794-802. doi: 10.1073/pnas.1103698108. Epub 2011 Sep 6.


Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J.

Am J Hum Genet. 2010 Jul 9;87(1):52-9. doi: 10.1016/j.ajhg.2010.06.001.


Low Complexity Regions behave as tRNA sponges to help co-translational folding of plasmodial proteins.

Frugier M, Bour T, Ayach M, Santos MA, Rudinger-Thirion J, Théobald-Dietrich A, Pizzi E.

FEBS Lett. 2010 Jan 21;584(2):448-54. doi: 10.1016/j.febslet.2009.11.004. Review.


Decreased aminoacylation in pathology-related mutants of mitochondrial tRNATyr is associated with structural perturbations in tRNA architecture.

Bonnefond L, Florentz C, Giegé R, Rudinger-Thirion J.

RNA. 2008 Apr;14(4):641-8. doi: 10.1261/rna.938108. Epub 2008 Feb 11.


Crystal structure of human mitochondrial tyrosyl-tRNA synthetase reveals common and idiosyncratic features.

Bonnefond L, Frugier M, Touzé E, Lorber B, Florentz C, Giegé R, Sauter C, Rudinger-Thirion J.

Structure. 2007 Nov;15(11):1505-16.


Virus-encoded aminoacyl-tRNA synthetases: structural and functional characterization of mimivirus TyrRS and MetRS.

Abergel C, Rudinger-Thirion J, Giegé R, Claverie JM.

J Virol. 2007 Nov;81(22):12406-17. Epub 2007 Sep 12.


Tyrosyl-tRNA synthetase: the first crystallization of a human mitochondrial aminoacyl-tRNA synthetase.

Bonnefond L, Frugier M, Touzé E, Lorber B, Florentz C, Giegé R, Rudinger-Thirion J, Sauter C.

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2007 Apr 1;63(Pt 4):338-41. Epub 2007 Mar 30.


Binding of human SLBP on the 3'-UTR of histone precursor H4-12 mRNA induces structural rearrangements that enable U7 snRNA anchoring.

Jaeger S, Martin F, Rudinger-Thirion J, Giegé R, Eriani G.

Nucleic Acids Res. 2006;34(17):4987-95. Epub 2006 Sep 18.


Idiosyncratic behaviour of tRNA-like structures in translation of plant viral RNA genomes.

Rudinger-Thirion J, Olsthoorn RC, Giegé R, Barends S.

J Mol Biol. 2006 Feb 3;355(5):873-8. Epub 2005 Nov 28.


Evolution of the tRNA(Tyr)/TyrRS aminoacylation systems.

Bonnefond L, Giegé R, Rudinger-Thirion J.

Biochimie. 2005 Sep-Oct;87(9-10):873-83. Epub 2005 Apr 8. Review.


Evidence for the existence in mRNAs of a hairpin element responsible for ribosome dependent pyrrolysine insertion into proteins.

Théobald-Dietrich A, Giegé R, Rudinger-Thirion J.

Biochimie. 2005 Sep-Oct;87(9-10):813-7. Epub 2005 Apr 8.


Human mitochondrial TyrRS disobeys the tyrosine identity rules.

Bonnefond L, Frugier M, Giegé R, Rudinger-Thirion J.

RNA. 2005 May;11(5):558-62.


Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.

Bonnefond L, Fender A, Rudinger-Thirion J, Giegé R, Florentz C, Sissler M.

Biochemistry. 2005 Mar 29;44(12):4805-16.


tRNA-like structure regulates translation of Brome mosaic virus RNA.

Barends S, Rudinger-Thirion J, Florentz C, Giegé R, Pleij CW, Kraal B.

J Virol. 2004 Apr;78(8):4003-10.


Atypical archaeal tRNA pyrrolysine transcript behaves towards EF-Tu as a typical elongator tRNA.

Théobald-Dietrich A, Frugier M, Giegé R, Rudinger-Thirion J.

Nucleic Acids Res. 2004 Feb 10;32(3):1091-6. Print 2004.


Novel features in the tRNA-like world of plant viral RNAs.

Fechter P, Rudinger-Thirion J, Florentz C, Giegé R.

Cell Mol Life Sci. 2001 Oct;58(11):1547-61. Review.


Identity of tRNA for yeast tyrosyl-tRNA synthetase: tyrosylation is more sensitive to identity nucleotides than to structural features.

Fechter P, Rudinger-Thirion J, Théobald-Dietrich A, Giegé R.

Biochemistry. 2000 Feb 22;39(7):1725-33.


Aminoacylated tmRNA from Escherichia coli interacts with prokaryotic elongation factor Tu.

Rudinger-Thirion J, Giegé R, Felden B.

RNA. 1999 Aug;5(8):989-92. No abstract available.


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