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...

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