{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T07:17:44Z","timestamp":1785827864679,"version":"3.56.0"},"reference-count":14,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"CIBC Wood Gundy Miracle Fund"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2019,1,1]]},"abstract":"<jats:p>Aminoacyl transfer RNA (tRNA) synthetase complex-interacting multifunctional protein I is a noncatalytic component of tRNA multi-synthetase complexes. Although important in joining tRNAs to their cognate amino acids, AIMP1 has several other functions including axonal growth, cytokine activity, and interactions with N-acetylaspartic acid in ribosomal tRNA synthetase complexes. Further, N-acetylaspartic acid donates an aspartate during myelination and is therefore important to axonal integrity. Mutations in AIMP1 can disrupt these functions, as demonstrated in this clinical case study of 2 monozygotic twins, who display congenital opisthotonus, microcephaly, severe developmental delay, and seizures. Whole exome sequencing was used to identify a premature stop codon in the AIMP1 gene (g. 107248613_c.115C&gt;T; p.(Gln39). In the absence of whole exome sequencing, we propose that decreased N-acetylaspartic acid peaks on magnetic resonance spectroscopy could act as a biomarker for AIMP1 mutations.<\/jats:p>","DOI":"10.1177\/2329048x19829520","type":"journal-article","created":{"date-parts":[[2019,2,21]],"date-time":"2019-02-21T23:46:05Z","timestamp":1550792765000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["<i>AIMP1<\/i>\n                    Mutation Long-Term Follow-Up, With Decreased Brain\n                    <i>N<\/i>\n                    -Acetylaspartic Acid and Secondary Mitochondrial Abnormalities"],"prefix":"10.1177","volume":"6","author":[{"given":"Aneal","family":"Khan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Pediatrics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0701-4002","authenticated-orcid":false,"given":"Jennifer","family":"Bennett","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morris H.","family":"Scantlebury","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics Clinical Neuroscience, Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xing-Chang","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Kerr","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2019,2,21]]},"reference":[{"key":"bibr1-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-014-0411-3"},{"key":"bibr2-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1408836111"},{"key":"bibr3-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1517\/17460441.3.8.945"},{"key":"bibr4-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2007.02.003"},{"key":"bibr5-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.01.117"},{"key":"bibr6-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0901872106"},{"key":"bibr7-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1101\/gr.4086505"},{"key":"bibr8-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.07.023"},{"key":"bibr9-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.016"},{"key":"bibr10-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.148"},{"key":"bibr11-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1042\/bj1840539"},{"key":"bibr12-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2006.12.003"},{"key":"bibr13-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1975.tb07665.x"},{"key":"bibr14-2329048X19829520","doi-asserted-by":"publisher","DOI":"10.1177\/0883073810390695"}],"container-title":["Child Neurology Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X19829520","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2329048X19829520","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X19829520","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:57:53Z","timestamp":1777391873000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2329048X19829520"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,1]]},"references-count":14,"alternative-id":["10.1177\/2329048X19829520"],"URL":"https:\/\/doi.org\/10.1177\/2329048x19829520","relation":{},"ISSN":["2329-048X","2329-048X"],"issn-type":[{"value":"2329-048X","type":"print"},{"value":"2329-048X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,1]]},"article-number":"2329048X19829520"}}