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Recent studies, empowered by advancements in genome sequencing, have uncovered an increasing number of disease\u2010causing mutations in aaRSs. Monoallelic aaRS mutations typically lead to dominant peripheral neuropathies such as Charcot\u2013Marie\u2013Tooth (CMT) disease, whereas biallelic aaRS mutations often impair the central nervous system (CNS) and cause neurodevelopmental disorders. Here, we review recent progress in the disease onsets, molecular basis, and potential therapies for diseases caused by aaRS mutations, with a focus on biallelic mutations in cytoplasmic aaRSs.<\/jats:p>","DOI":"10.1002\/iub.2924","type":"journal-article","created":{"date-parts":[[2024,11,2]],"date-time":"2024-11-02T08:14:16Z","timestamp":1730535256000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Aminoacyl\u2010<scp>tRNA<\/scp> synthetase defects in neurological diseases"],"prefix":"10.1002","volume":"77","author":[{"given":"Hong","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Cell Biology and Molecular Genetics The University of Maryland  College Park Maryland 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