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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.
Journal articles
hal-03554560v1
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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
Journal articles
hal-00356311v1
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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
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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 articles
hal-00259914v1
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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.
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.
Journal articles
hal-03888946v1
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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.
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.
Journal articles
inserm-00921182v1
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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.
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.
Journal articles
hal-02294914v1
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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.
Journal articles
hal-00167519v1
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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.
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.
Journal articles
hal-03362665v1
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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.
Journal articles
istex
hal-03365925v1
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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.
Journal articles
hal-02118688v1
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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.
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.
Journal articles
inserm-00921185v1
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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.
Journal articles
hal-00530056v1
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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.
Book sections
hal-02966167v1
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