Suchergebnisse - "Arginine-tRNA Ligase"

Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literature.

Autoren: Catania A Marchet S Einvag K et al.

Quelle: Molecular genetics and metabolism [Mol Genet Metab] 2025 Nov; Vol. 146 (3), pp. 109259. Date of Electronic Publication: 2025 Oct 06.

Publikationsart: Clinical Trial; Journal Article

Info zur Zeitschrift: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

MeSH-Schlagworte: Alanine*/administration & dosage , Amino Acids*/administration & dosage , Amino Acyl-tRNA Synthetases*/genetics , Arginine-tRNA Ligase*/genetics , Leukoencephalopathies*/genetics , Leukoencephalopathies*/diet therapy , Leukoencephalopathies*/drug therapy , Leukoencephalopathies*/pathology, Adult ; Female ; Humans ; Male ; Middle Aged ; Young Adult ; Dietary Supplements ; Mitochondria/genetics ; Mitochondria/enzymology ; Mutation ; Pilot Projects ; Treatment Outcome ; Alanine-tRNA Ligase ; Aspartate-tRNA Ligase

[Clinical and genetic analysis of six children with RARS2-related pontocerebellar hypoplasia].

Autoren: Zhang X Wang M Li J et al.

Quelle: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2025 Sep 10; Vol. 42 (9), pp. 1096-1105.

Publikationsart: English Abstract; Journal Article

Info zur Zeitschrift: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

MeSH-Schlagworte: Olivopontocerebellar Atrophies*/genetics , Arginine-tRNA Ligase*/genetics, Humans ; Male ; Female ; Child, Preschool ; Infant ; Child ; Mutation ; Cerebellar Diseases

SCR Disease Name: Pontocerebellar Hypoplasia

Investigating the binding of fluorescent probes to a trypanosomal-tRNA synthetase: A fluorescence spectroscopic and molecular dynamics study.

Autoren: Bhowal P Jameson D Banerjee R

Quelle: Archives of biochemistry and biophysics [Arch Biochem Biophys] 2025 Feb; Vol. 764, pp. 110263. Date of Electronic Publication: 2024 Dec 08.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: United States NLM ID: 0372430 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0384 (Electronic) Linking ISSN: 00039861 NLM ISO Abbreviation: Arch Biochem Biophys Subsets: MEDLINE

MeSH-Schlagworte: Fluorescent Dyes*/chemistry , Fluorescent Dyes*/metabolism , Molecular Dynamics Simulation* , Trypanosoma cruzi*/enzymology , Anilino Naphthalenesulfonates*/chemistry , Anilino Naphthalenesulfonates*/metabolism , Arginine-tRNA Ligase*/chemistry , Arginine-tRNA Ligase*/metabolism, Spectrometry, Fluorescence ; Protein Binding ; Hydrophobic and Hydrophilic Interactions

Unraveling the peculiarities and development of novel inhibitors of leishmanial arginyl-tRNA synthetase.

Autoren: Nasim F Kumar MS Alvala M et al.

Quelle: The FEBS journal [FEBS J] 2024 Jul; Vol. 291 (13), pp. 2955-2979. Date of Electronic Publication: 2024 Mar 25.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Published by Blackwell Pub. on behalf of the Federation of European Biochemical Societies Country of Publication: England NLM ID: 101229646 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1742-4658 (Electronic) Linking ISSN: 1742464X NLM ISO Abbreviation: FEBS J Subsets: MEDLINE

MeSH-Schlagworte: Leishmania donovani*/enzymology , Leishmania donovani*/genetics , Leishmania donovani*/drug effects , Enzyme Inhibitors*/pharmacology , Enzyme Inhibitors*/chemistry , Arginine-tRNA Ligase*/genetics , Arginine-tRNA Ligase*/metabolism , Arginine-tRNA Ligase*/chemistry, Humans ; Catalytic Domain ; Protozoan Proteins/antagonists & inhibitors ; Protozoan Proteins/genetics ; Protozoan Proteins/metabolism ; Protozoan Proteins/chemistry ; Amino Acid Sequence ; Antiprotozoal Agents/pharmacology ; Antiprotozoal Agents/chemistry

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.

Autoren: Walimbe AS Machol K Kralik SF et al.

Quelle: BMC neurology [BMC Neurol] 2024 Mar 04; Vol. 24 (1), pp. 87. Date of Electronic Publication: 2024 Mar 04.

Publikationsart: Case Reports; Journal Article

Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

MeSH-Schlagworte: Microcephaly*/genetics , Mitochondrial Diseases*/genetics , Arginine-tRNA Ligase*/genetics, Humans ; Male ; Child ; Muscle Hypotonia ; Phenotype ; Seizures

Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations.

Autoren: Zhao S Lian R Jin L et al.

Quelle: Epilepsia open [Epilepsia Open] 2024 Feb; Vol. 9 (1), pp. 250-257. Date of Electronic Publication: 2023 Dec 08.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

MeSH-Schlagworte: Epilepsy, Generalized* , Mitochondrial Diseases*/genetics , Hypoglycemia* , Arginine-tRNA Ligase*/genetics , Olivopontocerebellar Atrophies*, Infant ; Humans ; Male ; Seizures/genetics ; Atrophy ; Lactic Acid

SCR Disease Name: Pontocerebellar Hypoplasia Type 6

Elucidating the structure-function attributes of a trypanosomal arginyl-tRNA synthetase.

Autoren: Bhowal P Roy B Ganguli S et al.

Quelle: Molecular and biochemical parasitology [Mol Biochem Parasitol] 2023 Dec; Vol. 256, pp. 111597. Date of Electronic Publication: 2023 Oct 16.

Publikationsart: Journal Article; Research Support, Non-U.S. Gov't

Info zur Zeitschrift: Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Netherlands NLM ID: 8006324 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-9428 (Electronic) Linking ISSN: 01666851 NLM ISO Abbreviation: Mol Biochem Parasitol Subsets: MEDLINE

MeSH-Schlagworte: Arginine-tRNA Ligase*/chemistry , Arginine-tRNA Ligase*/genetics , Arginine-tRNA Ligase*/metabolism , Amino Acyl-tRNA Synthetases*/genetics , Amino Acyl-tRNA Synthetases*/metabolism, Humans ; Escherichia coli/genetics ; Escherichia coli/metabolism ; Sequence Alignment ; Canavanine/chemistry ; Canavanine/genetics ; Canavanine/metabolism

Arg-tRNA synthetase links inflammatory metabolism to RNA splicing and nuclear trafficking via SRRM2.

Autoren: Cui H Diedrich JK Wu DC et al.

Quelle: Nature cell biology [Nat Cell Biol] 2023 Apr; Vol. 25 (4), pp. 592-603. Date of Electronic Publication: 2023 Apr 14.

Publikationsart: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Info zur Zeitschrift: Publisher: Macmillan Magazines Ltd Country of Publication: England NLM ID: 100890575 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4679 (Electronic) Linking ISSN: 14657392 NLM ISO Abbreviation: Nat Cell Biol Subsets: MEDLINE

MeSH-Schlagworte: Amino Acyl-tRNA Synthetases*/genetics , Amino Acyl-tRNA Synthetases*/metabolism , Arginine-tRNA Ligase*/chemistry , Arginine-tRNA Ligase*/genetics , Arginine-tRNA Ligase*/metabolism, Amino Acids/metabolism ; Arginine/chemistry ; Arginine/genetics ; Arginine/metabolism ; RNA Splicing ; RNA-Binding Proteins/metabolism

Arginyl-tRNA synthetase in inflammation.

Autoren: Chen J; Department of Cell & Developmental Biology, University of Illinois at Urbana-Champaign, Urbana, IL, USA. jiechen@illinois.edu.

Quelle: Nature cell biology [Nat Cell Biol] 2023 Apr; Vol. 25 (4), pp. 520-521.

Publikationsart: Journal Article; Comment

Info zur Zeitschrift: Publisher: Macmillan Magazines Ltd Country of Publication: England NLM ID: 100890575 Publication Model: Print Cited Medium: Internet ISSN: 1476-4679 (Electronic) Linking ISSN: 14657392 NLM ISO Abbreviation: Nat Cell Biol Subsets: MEDLINE

MeSH-Schlagworte: Arginine-tRNA Ligase*/genetics , Arginine-tRNA Ligase*/metabolism, Humans ; Inflammation ; Liver/metabolism ; Kinetics

Enzymatic Aminoacylation of tRNA ^Arg Using Recombinant Arg-tRNA Synthetase.

Autoren: Avcilar-Kucukgoze I Kashina AS

Quelle: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2023; Vol. 2620, pp. 107-111.

Publikationsart: Journal Article; Research Support, Non-U.S. Gov't

Info zur Zeitschrift: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

MeSH-Schlagworte: Arginine-tRNA Ligase*/chemistry , Arginine-tRNA Ligase*/genetics , Arginine-tRNA Ligase*/metabolism , Amino Acyl-tRNA Synthetases*/metabolism, RNA, Transfer, Arg/chemistry ; RNA, Transfer, Arg/genetics ; RNA, Transfer, Arg/metabolism ; Aminoacylation ; RNA, Transfer/genetics ; Transfer RNA Aminoacylation ; Kinetics

Preparation of tRNA ^Arg for Arginylation Assay by In Vitro Transcription.

Autoren: Avcilar-Kucukgoze I Kashina AS

Quelle: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2023; Vol. 2620, pp. 93-99.

Publikationsart: Journal Article; Research Support, N.I.H., Extramural

Info zur Zeitschrift: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

MeSH-Schlagworte: RNA, Transfer, Arg*/genetics , RNA, Transfer, Arg*/metabolism , Arginine-tRNA Ligase*/genetics , Arginine-tRNA Ligase*/metabolism, RNA, Transfer/genetics ; RNA, Transfer/metabolism ; Transfer RNA Aminoacylation

Synthesis of Stably Charged Arg-tRNA ^Arg for Structural Analysis.

Autoren: Yamaki Y Gamper H Hou YM

Quelle: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2023; Vol. 2620, pp. 263-271.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

MeSH-Schlagworte: Arginine*/metabolism , Arginine-tRNA Ligase*/chemistry , Arginine-tRNA Ligase*/genetics , Arginine-tRNA Ligase*/metabolism, RNA, Transfer, Arg/chemistry ; RNA, Transfer, Arg/genetics ; RNA, Transfer, Arg/metabolism ; Protein Binding ; RNA, Transfer/metabolism

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.

Autoren: Nicolle R Altin N Siquier-Pernet K et al.

Quelle: BMC medical genomics [BMC Med Genomics] 2023 Jun 21; Vol. 16 (1), pp. 143. Date of Electronic Publication: 2023 Jun 21.

Publikationsart: Journal Article; Research Support, Non-U.S. Gov't

Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

MeSH-Schlagworte: Cerebellar Diseases* , Olivopontocerebellar Atrophies*/genetics , Arginine-tRNA Ligase*, Humans ; RNA, Messenger/genetics

SCR Disease Name: Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia Type 6

Assembly of the Human Multi-tRNA Synthetase Complex Through Leucine Zipper Motifs.

Autoren: Kim DK Lee K Kang BS

Quelle: Journal of molecular biology [J Mol Biol] 2024 Dec 15; Vol. 436 (24), pp. 168865. Date of Electronic Publication: 2024 Nov 13.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 2985088R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1089-8638 (Electronic) Linking ISSN: 00222836 NLM ISO Abbreviation: J Mol Biol Subsets: MEDLINE

MeSH-Schlagworte: Leucine Zippers* , Amino Acyl-tRNA Synthetases*/metabolism , Amino Acyl-tRNA Synthetases*/chemistry , Amino Acyl-tRNA Synthetases*/genetics , Models, Molecular*, Humans ; Protein Binding ; Arginine-tRNA Ligase/metabolism ; Arginine-tRNA Ligase/chemistry ; Arginine-tRNA Ligase/genetics ; Crystallography, X-Ray ; RNA-Binding Proteins/chemistry ; RNA-Binding Proteins/metabolism ; RNA-Binding Proteins/genetics ; Protein Multimerization ; Neoplasm Proteins ; Nuclear Proteins ; Tryptophan-tRNA Ligase ; Cytokines

Functional Interplay between Arginyl-tRNA Synthetases and Arginyltransferase.

Autoren: Avcilar-Kucukgoze I MacTaggart B Kashina A

Quelle: International journal of molecular sciences [Int J Mol Sci] 2022 Sep 05; Vol. 23 (17). Date of Electronic Publication: 2022 Sep 05.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

MeSH-Schlagworte: Aminoacyltransferases*/metabolism , Arginine-tRNA Ligase*/chemistry , Arginine-tRNA Ligase*/genetics , Arginine-tRNA Ligase*/metabolism, Arginine/metabolism ; Protein Processing, Post-Translational ; RNA, Transfer, Arg/genetics ; RNA, Transfer, Arg/metabolism

[Autosomal recessive heterocygote mutation of the RARS2 gene in a colombian patient with non- consanguineous parents].

Transliterierter Titel: Mutación heterocigota, autosómica recesiva del gen RARS2 en una paciente colombiana de padres no consanguíneos.

Autoren: Bendeck JL Villamizar I Prieto C et al.

Quelle: Archivos argentinos de pediatria [Arch Argent Pediatr] 2022 Feb; Vol. 120 (1), pp. e39-e48. Date of Electronic Publication: 2022 Jan 01.

Publikationsart: Case Reports; Journal Article

Info zur Zeitschrift: Publisher: Sociedad Argentina de Pediatría Country of Publication: Argentina NLM ID: 0372460 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1668-3501 (Electronic) Linking ISSN: 03250075 NLM ISO Abbreviation: Arch Argent Pediatr Subsets: MEDLINE

MeSH-Schlagworte: Arginine-tRNA Ligase*/genetics , Quality of Life*, Colombia ; Consanguinity ; Female ; Humans ; Magnetic Resonance Imaging ; Mutation ; Parents

Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.

Autoren: Zhang Y Yu Y Zhao X et al.

Quelle: Pediatric neurology [Pediatr Neurol] 2022 Jun; Vol. 131, pp. 30-41. Date of Electronic Publication: 2022 Apr 15.

Publikationsart: Journal Article; Research Support, Non-U.S. Gov't

Info zur Zeitschrift: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

MeSH-Schlagworte: Arginine-tRNA Ligase*/genetics , Olivopontocerebellar Atrophies*/diagnosis , Olivopontocerebellar Atrophies*/pathology, Humans ; HEK293 Cells ; Mutation/genetics ; Reactive Oxygen Species

SCR Disease Name: Pontocerebellar Hypoplasia Type 6

Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.

Autoren: de Valles-Ibáñez G Hildebrand MS Bahlo M et al.

Quelle: Epilepsia open [Epilepsia Open] 2022 Mar; Vol. 7 (1), pp. 170-180. Date of Electronic Publication: 2021 Nov 18.

Publikationsart: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Info zur Zeitschrift: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

MeSH-Schlagworte: Arginine-tRNA Ligase*/genetics , Brain Diseases*/genetics , Epilepsy*, Electroencephalography ; Humans ; Phenotype ; Seizures/genetics

Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease.

Autoren: Li G Eriani G Wang ED et al.

Quelle: Science China. Life sciences [Sci China Life Sci] 2021 Oct; Vol. 64 (10), pp. 1645-1660. Date of Electronic Publication: 2021 Jan 28.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Science China Press, co-published with Springer Country of Publication: China NLM ID: 101529880 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1869-1889 (Electronic) Linking ISSN: 16747305 NLM ISO Abbreviation: Sci China Life Sci Subsets: MEDLINE

MeSH-Schlagworte: Arginine-tRNA Ligase/*genetics , Hereditary Central Nervous System Demyelinating Diseases/*genetics, 5' Untranslated Regions ; Arginine-tRNA Ligase/chemistry ; Arginine-tRNA Ligase/metabolism ; Humans ; Mutation ; Open Reading Frames ; Protein Biosynthesis ; Protein Conformation ; Protein Domains ; Protein Stability

SCR Disease Name: Leukodystrophy, Hypomyelinating, 2

The Evolutionary Fate of Mitochondrial Aminoacyl-tRNA Synthetases in Amitochondrial Organisms.

Autoren: Igloi GL; Institute of Biology III, University of Freiburg, Schaenzlestr. 1, 79104, Freiburg, Germany. igloi@biologie.uni-freiburg.de.

Quelle: Journal of molecular evolution [J Mol Evol] 2021 Aug; Vol. 89 (7), pp. 484-493. Date of Electronic Publication: 2021 Jul 12.

Publikationsart: Journal Article; Research Support, Non-U.S. Gov't

Info zur Zeitschrift: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0360051 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1432 (Electronic) Linking ISSN: 00222844 NLM ISO Abbreviation: J Mol Evol Subsets: MEDLINE

MeSH-Schlagworte: Amino Acyl-tRNA Synthetases*/genetics , Amino Acyl-tRNA Synthetases*/metabolism , Arginine-tRNA Ligase*/metabolism, Amino Acid Sequence ; Mitochondria/genetics ; Mitochondria/metabolism ; RNA, Transfer