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authFullName_s : Joëlle Rudinger-Thirion
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A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders

Denise L Chan , Joëlle Rudinger-Thirion , Magali Frugier , Lisa Riley , Gladys Ho et al.
Brain and Development, 2022, 44 (2), pp.142-147. ⟨10.1016/j.braindev.2021.10.009⟩
Journal articles hal-03554560v1

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

Luc Bonnefond , Catherine Florentz , Richard Giegé , Joëlle Rudinger-Thirion
RNA, 2008, 14 (4), pp.641-8. ⟨10.1261/rna.938108⟩
Journal articles hal-00356311v1

Virus-Encoded Aminoacyl-tRNA Synthetases: Structural and Functional Characterization of Mimivirus TyrRS and MetRS

Chantal Abergel , Richard Giegé , Joëlle Rudinger-Thirion , Jean-Michel Claverie
Journal of Virology, 2007, pp.12406-12417
Journal articles hal-00199127v1

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

Chantal Abergel , Joëlle Rudinger-Thirion , Richard Giegé , Jean-Michel Claverie
Journal of Virology, 2007, 81 (22), pp.12406-17. ⟨10.1128/JVI.01107-07⟩
Journal articles hal-00259914v1

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

Magali Frugier , Tania Bour , Maya Ayach , Manuel a S Santos , Joëlle Rudinger-Thirion et al.
FEBS Letters, 2010, 584 (2), pp.448-54. ⟨10.1016/j.febslet.2009.11.004⟩
Journal articles hal-00526424v1
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LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

Anne-Sophie Neyroud , Joëlle Rudinger-Thirion , Magali Frugier , Lisa G Riley , Maud Bidet et al.
European Journal of Human Genetics, 2022, ⟨10.1038/s41431-022-01252-1⟩
Journal articles hal-03888946v1

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

Sophie Jaeger , Franck Martin , Joëlle Rudinger-Thirion , Richard Giegé , Gilbert Eriani et al.
Nucleic Acids Research, 2006, 34 (17), pp.4987-95. ⟨10.1093/nar/gkl666⟩
Journal articles hal-00120105v1
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Aminoacylated tmRNA from Escherichia coli interacts with prokaryotic elongation factor Tu.

Joëlle Rudinger-Thirion , Richard Giegé , Brice Felden
RNA, 1999, 5 (8), pp.989-92
Journal articles inserm-00718433v1
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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Lisa Riley , Minal Menezes , Joëlle Rudinger-Thirion , Rachael Duff , Pascale de Lonlay et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.193. ⟨10.1186/1750-1172-8-193⟩
Journal articles inserm-00921182v1

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

Marta Cela , Caroline Paulus , Manuel Santos , Gabriela Moura , Magali Frugier et al.
PLoS ONE, 2018, 13 (12), pp.e0209805. ⟨10.1371/journal.pone.0209805⟩
Journal articles hal-02118678v1
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Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Marjo S. van Der Knaap , Marianna Bugiani , Marisa Mendes , Lisa Riley , Desiree E.C. Smith et al.
Neurology, 2019, 92 (11), pp.e1225. ⟨10.1212/WNL.0000000000007098⟩
Journal articles hal-02294914v1

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

Luc Bonnefond , Magali Frugier , Elodie Touzé , Bernard Lorber , Catherine Florentz et al.
Acta Crystallograph Sect F Struct Biol Cryst Commun, 2007, 63 (Pt 4), pp.338-41. ⟨10.1107/S1744309107012481⟩
Journal articles hal-00167519v1

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

Luc Bonnefond , Magali Frugier , Elodie Touzé , Bernard Lorber , Catherine Florentz et al.
Structure / Struct Fold Des; Structure (Camb ), 2007, 15 (11), pp.1505-16. ⟨10.1016/j.str.2007.09.018⟩
Journal articles hal-00199322v1
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Identification of host tRNAs preferentially recognized by the Plasmodium surface protein tRip

Marta Cela , Anne Théobald-Dietrich , Joëlle Rudinger-Thirion , Philippe Wolff , Renaud Geslain et al.
Nucleic Acids Research, 2021, ⟨10.1093/nar/gkab769⟩
Journal articles hal-03362665v1

Toward the Full Set of Human Mitochondrial Aminoacyl-tRNA Synthetases: Characterization of AspRS and TyrRS †

Luc Bonnefond , Aurélie Fender , Joëlle Rudinger-Thirion , Richard Giegé , Catherine Florentz et al.
Biochemistry, 2005, 44 (12), pp.4805-4816. ⟨10.1021/bi047527z⟩
Journal articles istex hal-03365925v1

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

Lisa Riley , Matthew Heeney , Joëlle Rudinger-Thirion , Magali Frugier , Dean Campagna et al.
Haematologica, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Journal articles hal-02118688v1

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

Lisa Riley , Joëlle Rudinger-Thirion , Klaus Schmitz-Abe , David Thorburn , Ryan Davis et al.
JIMD Reports, Volume 28 pp 49-57, pp.49-57, 2015, ⟨10.1007/8904_2015_515⟩
Book sections hal-02294515v1
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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Lisa Riley , Minal Menezes , Joëlle Rudinger-Thirion , Rachael Duff , Pascale de Lonlay et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.193. ⟨10.1186/1750-1172-8-193⟩
Journal articles inserm-00921185v1

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

Lisa G Riley , Sandra T. Cooper , Peter Hickey , Joëlle Rudinger-Thirion , Matthew Mckenzie et al.
American Journal of Human Genetics, 2010, 87 (1), pp.52-9. ⟨10.1016/j.ajhg.2010.06.001⟩
Journal articles hal-00530056v1

Structural Analysis of RNA by Small-Angle X-ray Scattering

Anne Théobald-Dietrich , Raphaël de Wijn , Kévin Rollet , Alexandra Bluhm , Joëlle Rudinger-Thirion et al.
Methods Mol Biol, pp.189-215, 2020, ⟨10.1007/978-1-0716-0278-2_14⟩
Book sections hal-02966167v1