{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T10:09:27Z","timestamp":1789034967272,"version":"build-2803163510"},"reference-count":78,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T00:00:00Z","timestamp":1788998400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T00:00:00Z","timestamp":1788998400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5RO1GM054899"],"award-info":[{"award-number":["5RO1GM054899"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["febs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The FEBS Journal"],"abstract":"<jats:p>\n                    Aminoacyl\u2010tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) is a component of the eukaryote\u2010specific multisynthetase complex (MSC), a macromolecular assembly of eight aminoacyl\u2010tRNA synthetases (ARS) and three scaffolding components known as aminoacyl\u2010tRNA synthetase interacting multifunctional proteins (AIMP1\u20103). Recent studies show that bi\u2010allelic mutations in\n                    <jats:italic>AIMP2<\/jats:italic>\n                    cause a neurodevelopmental syndrome that overlaps phenotypically with disorders caused by recessive ARS mutations. In this work, we further characterize\n                    <jats:italic>AIMP2<\/jats:italic>\n                    mutations in two patients with severe neurodevelopmental disorders, including one previously unreported compound heterozygous patient. We show patient\u2010derived fibroblast\n                    <jats:italic>AIMP2<\/jats:italic>\n                    mutations cause decreased protein expression, attenuation of protein synthesis, and dysregulation of the MSC component, methionyl\u2010tRNA synthetase (MARS1). CRISPR\u2010mediated disruption of\n                    <jats:italic>aimp2<\/jats:italic>\n                    in zebrafish led to increased cell death and atrophy in the developing brain, further supporting a link between AIMP2 dysfunction and neurodevelopmental defects. We tested anticodon engineered suppressor tRNAs on expression of disease\u2010associated nonsense mutations and found that they dramatically increase protein expression of AIMP2 variants. Together, these data demonstrate that AIMP2 depletion leads to neurodevelopmental dysfunction in both human and zebrafish, and suggest that therapies such as anticodon engineered suppressor tRNAs could improve patient outcomes.\n                  <\/jats:p>","DOI":"10.1111\/febs.70716","type":"journal-article","created":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T09:20:32Z","timestamp":1789032032000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Newly identified human aminoacyl\u2010\n                    <scp>tRNA<\/scp>\n                    synthetase complex interacting multifunctional protein 2 (\n                    <scp>AIMP2<\/scp>\n                    ) loss\u2010of\u2010function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1495-2259","authenticated-orcid":false,"given":"Patrick","family":"Mullen","sequence":"first","affiliation":[{"name":"Department of Biology University of Vermont  Burlington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shenela","family":"Lakhani","sequence":"additional","affiliation":[{"name":"Center for Neurogenetics Weill Cornell Medicine  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Appelbaum","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Larner College of Medicine University of Vermont  Burlington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e9Jena\u00e9","family":"See","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Larner College of Medicine University of Vermont  Burlington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pryce","family":"Patterson","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Larner College of Medicine University of Vermont  Burlington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Collin M.","family":"MacLeod","sequence":"additional","affiliation":[{"name":"Department of Biology University of Vermont  Burlington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"George","sequence":"additional","affiliation":[{"name":"Department of Biology University of Vermont  Burlington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology University College London  UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret E.","family":"Ross","sequence":"additional","affiliation":[{"name":"Center for Neurogenetics Weill Cornell Medicine  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6075-4037","authenticated-orcid":false,"given":"Christopher","family":"Francklyn","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Larner College of Medicine University of Vermont  Burlington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1112-2009","authenticated-orcid":false,"given":"Alicia M.","family":"Ebert","sequence":"additional","affiliation":[{"name":"Department of Biology University of Vermont  Burlington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1002\/mgg3.217","article-title":"Pitfalls in 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