A disease-causing Isoleucyl-tRNA synthetase variant leads to altered protein complex formation and cellular stress response

Abstract excerpt

Aminoacyl-tRNA synthetases are key enzymes in protein synthesis, as they catalyze the attachment of amino acids to their designated, cognate tRNAs. As such, mutations in aminoacyl-tRNA synthetases are associated with severe diseases, such as neurodevelopmental disorders. Many of these mutations occur in the catalytically active site or tRNA binding domains, however, others can affect domains associated with multis...

Topics

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• Amino Acids
• Amino Acyl-tRNA Synthetases
• Autoantibodies
• Drug Discovery
• Enzyme Inhibitors
• Mutation
• RNA, Transfer
• Stress, Physiological

Identifiers and source

Literature Corpus work

ed02bc20-52b6-5450-a8fa-43c68e6a6cc9

DOI

10.1101/2025.08.21.671621