{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T21:37:39Z","timestamp":1788817059028,"version":"build-2803163510"},"reference-count":49,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,3,22]],"date-time":"2025-03-22T00:00:00Z","timestamp":1742601600000},"content-version":"vor","delay-in-days":2,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010663","name":"ERC","doi-asserted-by":"publisher","award":["ERC-2017-COG 770244"],"award-info":[{"award-number":["ERC-2017-COG 770244"]}],"id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Radala Foundation"},{"DOI":"10.13039\/501100014076","name":"Stichting ALS Nederland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100014076","id-type":"DOI","asserted-by":"publisher"}]},{"name":"AFM-Telethon"},{"DOI":"10.13039\/501100006510","name":"ARSLA","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006510","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["W.OR22-03"],"award-info":[{"award-number":["W.OR22-03"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["MDA 946876"],"award-info":[{"award-number":["MDA 946876"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Open Competition ENW-M"},{"DOI":"10.13039\/100013278","name":"EU Joint Programme \u2013 Neurodegenerative Disease Research","doi-asserted-by":"publisher","award":["ZonMW 733051075"],"award-info":[{"award-number":["ZonMW 733051075"]}],"id":[{"id":"10.13039\/100013278","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013278","name":"EU Joint Programme \u2013 Neurodegenerative Disease Research","doi-asserted-by":"publisher","award":["ZonMW 733051073"],"award-info":[{"award-number":["ZonMW 733051073"]}],"id":[{"id":"10.13039\/100013278","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Donders Center for Neuroscience"},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["IG73\/21-1"],"award-info":[{"award-number":["IG73\/21-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Dominantly inherited mutations in eight cytosolic aminoacyl-tRNA synthetase genes cause hereditary motor and sensory neuropathy, characterized by degeneration of peripheral motor and sensory axons. We previously identified a pathogenic gain-of-toxic function mechanism underlying peripheral neuropathy (PN) caused by heterozygous mutations in the GARS1 gene, encoding glycyl-tRNA synthetase (GlyRS). Specifically, PN-mutant GlyRS variants sequester tRNAGly, which depletes the cellular tRNAGly pool, leading to insufficient glycyl-tRNAGly available to the ribosome and consequently ribosome stalling at glycine codons. Given that GlyRS functions as a homodimer, a subset of PN-GlyRS mutations might alternatively cause peripheral neuropathy through a dominant negative loss-of-function mechanism. To explore this possibility, we here generated three novel PN-GlyRS Drosophila models expressing human PN-GlyRS (hGlyRS) variants that do not alter the overall GlyRS protein charge (S211F and H418R) or the single reported PN-GlyRS variant that renders the GlyRS protein charge more negative (K456Q). High-level expression of hGlyRS-K456Q did not induce peripheral neuropathy and the K456Q variant does not affect aminoacylation activity, suggesting that K456Q is not a pathogenic mutation. Expression of hGlyRS-S211F or hGlyRS-H418R in Drosophila did induce peripheral neuropathy and de novo protein synthesis defects. Genetic and biochemical evidence indicates that these phenotypes were attributable to tRNAGly sequestration rather than a dominant negative mechanism. Our data identify tRNAGly sequestration as a unifying pathogenic mechanism underlying PN-GlyRS. Thus, elevating tRNAGly levels may constitute a therapeutic approach for all PN-GlyRS patients, irrespective of their disease-causing mutation.<\/jats:p>","DOI":"10.1093\/nar\/gkaf201","type":"journal-article","created":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T15:25:21Z","timestamp":1741015521000},"source":"Crossref","is-referenced-by-count":7,"title":["Glycyl-tRNA sequestration is a unifying mechanism underlying\n                    <i>GARS1<\/i>\n                    -associated peripheral neuropathy"],"prefix":"10.1093","volume":"53","author":[{"given":"Natalia","family":"Mora","sequence":"first","affiliation":[{"name":"Molecular Neurobiology Laboratory, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University , 6525AJ Nijmegen ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik\u00a0F J","family":"Slot","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology Laboratory, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University , 6525AJ Nijmegen ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Lewandowski","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Hamburg University , 20146 Hamburg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria\u00a0P","family":"Menafra","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology Laboratory, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University , 6525AJ Nijmegen ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moushami","family":"Mallik","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology Laboratory, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University , 6525AJ Nijmegen ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"van\u00a0Lith","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology Laboratory, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University , 6525AJ Nijmegen ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Sijlmans","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology Laboratory, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University , 6525AJ Nijmegen ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"van\u00a0Bakel","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology Laboratory, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University , 6525AJ Nijmegen ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoya","family":"Ignatova","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Hamburg University , 20146 Hamburg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9519-5642","authenticated-orcid":false,"given":"Erik","family":"Storkebaum","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology Laboratory, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University , 6525AJ Nijmegen ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,3,22]]},"reference":[{"key":"2025041601024607800_B1","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1146\/annurev-cellbio-021623-124009","article-title":"tRNA dysregulation in neurodevelopmental and neurodegenerative diseases","volume":"39","author":"Burgess","year":"2023","journal-title":"Annu Rev Cell Dev Biol"},{"key":"2025041601024607800_B2","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1146\/annurev.biochem.69.1.617","article-title":"Aminoacyl-tRNA synthesis","volume":"69","author":"Ibba","year":"2000","journal-title":"Annu Rev Biochem"},{"key":"2025041601024607800_B3","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1261\/rna.071720.119","article-title":"Aminoacyl-tRNA synthetases","volume":"26","author":"Rubio\u00a0Gomez","year":"2020","journal-title":"RNA"},{"key":"2025041601024607800_B4","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1146\/annurev.bi.56.070187.001013","article-title":"Aminoacyl tRNA synthetases: general scheme of structure-function relationships in the polypeptides and recognition of transfer RNAs","volume":"56","author":"Schimmel","year":"1987","journal-title":"Annu Rev Biochem"},{"key":"2025041601024607800_B5","doi-asserted-by":"publisher","first-page":"1293","DOI":"10.1086\/375039","article-title":"Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V","volume":"72","author":"Antonellis","year":"2003","journal-title":"Am J Hum Genet"},{"key":"2025041601024607800_B6","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1016\/S1474-4422(09)70110-3","article-title":"Diagnosis, natural history, and management of Charcot-Marie-Tooth disease","volume":"8","author":"Pareyson","year":"2009","journal-title":"The Lancet Neurology"},{"key":"2025041601024607800_B7","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1038\/nrneurol.2013.179","article-title":"Clinical implications of genetic advances in Charcot-Marie-Tooth disease","volume":"9","author":"Rossor","year":"2013","journal-title":"Nat Rev Neurol"},{"key":"2025041601024607800_B8","doi-asserted-by":"publisher","first-page":"1710","DOI":"10.1212\/01.wnl.0000242619.52335.bc","article-title":"Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene","volume":"67","author":"James","year":"2006","journal-title":"Neurology"},{"key":"2025041601024607800_B9","doi-asserted-by":"publisher","first-page":"1167","DOI":"10.1002\/ajmg.a.61544","article-title":"GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment","volume":"182","author":"Markovitz","year":"2020","journal-title":"American J of Med Genetics Pt A"},{"key":"2025041601024607800_B10","doi-asserted-by":"publisher","first-page":"7520","DOI":"10.1038\/ncomms8520","article-title":"Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases","volume":"6","author":"Niehues","year":"2015","journal-title":"Nat Commun"},{"key":"2025041601024607800_B11","doi-asserted-by":"publisher","first-page":"1156","DOI":"10.1126\/science.abb3414","article-title":"The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy","volume":"373","author":"Spaulding","year":"2021","journal-title":"Science"},{"key":"2025041601024607800_B12","doi-asserted-by":"publisher","first-page":"1161","DOI":"10.1126\/science.abb3356","article-title":"tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase","volume":"373","author":"Zuko","year":"2021","journal-title":"Science"},{"key":"2025041601024607800_B13","doi-asserted-by":"publisher","first-page":"4946","DOI":"10.1073\/pnas.1813352116","article-title":"Activation of GCN2 by the ribosomal P-stalk","volume":"116","author":"Inglis","year":"2019","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025041601024607800_B14","doi-asserted-by":"publisher","first-page":"e50149","DOI":"10.7554\/eLife.50149","article-title":"The ribosomal P-stalk couples amino acid starvation to GCN2 activation in mammalian cells","volume":"8","author":"Harding","year":"2019","journal-title":"eLife"},{"key":"2025041601024607800_B15","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1016\/j.cell.2020.06.006","article-title":"Ribosome collisions trigger general stress responses to regulate cell fate","volume":"182","author":"Wu","year":"2020","journal-title":"Cell"},{"key":"2025041601024607800_B16","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1016\/j.neuron.2006.08.027","article-title":"An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model","volume":"51","author":"Seburn","year":"2006","journal-title":"Neuron"},{"key":"2025041601024607800_B17","doi-asserted-by":"publisher","first-page":"e1002399","DOI":"10.1371\/journal.pgen.1002399","article-title":"Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels","volume":"7","author":"Motley","year":"2011","journal-title":"PLoS Genet"},{"key":"2025041601024607800_B18","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1002\/bies.201600052","article-title":"Peripheral neuropathy via mutant tRNA synthetases: inhibition of protein translation provides a possible explanation","volume":"38","author":"Storkebaum","year":"2016","journal-title":"Bioessays"},{"key":"2025041601024607800_B19","doi-asserted-by":"publisher","first-page":"828","DOI":"10.1038\/nn1910","article-title":"Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization","volume":"10","author":"Chihara","year":"2007","journal-title":"Nat Neurosci"},{"key":"2025041601024607800_B20","doi-asserted-by":"publisher","first-page":"9673","DOI":"10.1073\/pnas.1106386108","article-title":"Enhancer-driven membrane markers for analysis of nonautonomous mechanisms reveal neuron-glia interactions in Drosophila","volume":"108","author":"Han","year":"2011","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025041601024607800_B21","doi-asserted-by":"publisher","first-page":"1765","DOI":"10.1126\/science.1089035","article-title":"Spatiotemporal rescue of memory dysfunction in Drosophila","volume":"302","author":"McGuire","year":"2003","journal-title":"Science"},{"key":"2025041601024607800_B22","doi-asserted-by":"publisher","first-page":"1747","DOI":"10.1126\/science.1134426","article-title":"P[acman]: a BAC transgenic platform for targeted insertion of large DNA fragments in D. melanogaster","volume":"314","author":"Venken","year":"2006","journal-title":"Science"},{"key":"2025041601024607800_B23","doi-asserted-by":"publisher","first-page":"3312","DOI":"10.1073\/pnas.0611511104","article-title":"An optimized transgenesis system for Drosophila using germ-line-specific phiC31 integrases","volume":"104","author":"Bischof","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025041601024607800_B24","doi-asserted-by":"publisher","first-page":"7521","DOI":"10.1038\/ncomms8521","article-title":"Cell-selective labelling of proteomes in Drosophila melanogaster","volume":"6","author":"Erdmann","year":"2015","journal-title":"Nat Commun"},{"key":"2025041601024607800_B25","doi-asserted-by":"publisher","first-page":"e2397","DOI":"10.21769\/BioProtoc.2397","article-title":"Cell type-specific metabolic labeling of proteins with azidonorleucine in Drosophila","volume":"7","author":"Erdmann","year":"2017","journal-title":"BIO-PROTOCOL"},{"key":"2025041601024607800_B26","doi-asserted-by":"publisher","first-page":"3367","DOI":"10.1038\/s41467-023-39063-7","article-title":"THRONCAT: metabolic labeling of newly synthesized proteins using a bioorthogonal threonine analog","volume":"14","author":"Ignacio","year":"2023","journal-title":"Nat Commun"},{"key":"2025041601024607800_B27","doi-asserted-by":"publisher","first-page":"3850","DOI":"10.1038\/s41467-021-24076-x","article-title":"Repurposing tRNAs for nonsense suppression","volume":"12","author":"Albers","year":"2021","journal-title":"Nat Commun"},{"key":"2025041601024607800_B28","doi-asserted-by":"publisher","article-title":"Nanopore sequencing of intact aminoacylated tRNAs","author":"White","DOI":"10.1101\/2024.11.18.623114"},{"key":"2025041601024607800_B29","doi-asserted-by":"publisher","first-page":"10397","DOI":"10.1523\/JNEUROSCI.1671-06.2006","article-title":"Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons","volume":"26","author":"Antonellis","year":"2006","journal-title":"J Neurosci"},{"key":"2025041601024607800_B30","doi-asserted-by":"publisher","first-page":"11239","DOI":"10.1073\/pnas.0705055104","article-title":"Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect","volume":"104","author":"Nangle","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025041601024607800_B31","doi-asserted-by":"publisher","first-page":"9976","DOI":"10.1073\/pnas.0703908104","article-title":"Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase","volume":"104","author":"Xie","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025041601024607800_B32","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1111\/j.1529-8027.2012.00442.x","article-title":"Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V","volume":"17","author":"Lee","year":"2012","journal-title":"J Peripheral Nervous Sys"},{"key":"2025041601024607800_B33","doi-asserted-by":"publisher","first-page":"2304","DOI":"10.1093\/brain\/awh590","article-title":"Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations","volume":"128","author":"Sivakumar","year":"2005","journal-title":"Brain"},{"key":"2025041601024607800_B34","doi-asserted-by":"publisher","first-page":"1363","DOI":"10.1002\/humu.22681","article-title":"Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations","volume":"35","author":"Griffin","year":"2014","journal-title":"Hum Mutat"},{"key":"2025041601024607800_B35","doi-asserted-by":"publisher","first-page":"137","DOI":"10.3233\/JND-200472","article-title":"Clinical and genetic features in a series of eight unrelated patients with neuropathy due to glycyl-tRNA synthetase (GARS) Variants","volume":"7","author":"Forrester","year":"2020","journal-title":"Journal of Neuromuscular Diseases"},{"key":"2025041601024607800_B36","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1186\/s12881-015-0224-8","article-title":"Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability","volume":"16","author":"Antoniadi","year":"2015","journal-title":"BMC Med Genet"},{"key":"2025041601024607800_B37","doi-asserted-by":"publisher","first-page":"20359","DOI":"10.1074\/jbc.M114.557249","article-title":"Cocrystal structures of glycyl-tRNA synthetase in complex with tRNA suggest multiple conformational states in glycylation","volume":"289","author":"Qin","year":"2014","journal-title":"J Biol Chem"},{"key":"2025041601024607800_B38","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1242\/dmm.002527","article-title":"An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy","volume":"2","author":"Achilli","year":"2009","journal-title":"Dis Model Mech"},{"key":"2025041601024607800_B39","doi-asserted-by":"publisher","first-page":"5568","DOI":"10.1172\/JCI130600","article-title":"Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models","volume":"129","author":"Morelli","year":"2019","journal-title":"J Clin Invest"},{"key":"2025041601024607800_B40","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1016\/j.nbd.2014.04.020","article-title":"CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila","volume":"68","author":"Ermanoska","year":"2014","journal-title":"Neurobiol Dis"},{"key":"2025041601024607800_B41","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.1146\/annurev-biochem-060109-092838","article-title":"Mitochondrial tRNA import and its consequences for mitochondrial translation","volume":"80","author":"Schneider","year":"2011","journal-title":"Annu Rev Biochem"},{"key":"2025041601024607800_B42","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1038\/s41467-018-03461-z","article-title":"Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy","volume":"9","author":"Mo","year":"2018","journal-title":"Nat Commun"},{"key":"2025041601024607800_B43","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1093\/brain\/awx375","article-title":"HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease","volume":"141","author":"Benoy","year":"2018","journal-title":"Brain"},{"key":"2025041601024607800_B44","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1002\/1873-3468.12962","article-title":"The role of tRNA synthetases in neurological and neuromuscular disorders","volume":"592","author":"Boczonadi","year":"2018","journal-title":"FEBS Lett"},{"key":"2025041601024607800_B45","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2025041601024607800_B46","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1186\/1471-2350-15-36","article-title":"Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease","volume":"15","author":"McMillan","year":"2014","journal-title":"BMC Med Genet"},{"key":"2025041601024607800_B47","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1001\/jama.2014.7184","article-title":"Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies","volume":"312","author":"Taylor","year":"2014","journal-title":"JAMA"},{"key":"2025041601024607800_B48","doi-asserted-by":"publisher","first-page":"1412","DOI":"10.1002\/humu.23287","article-title":"Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation","volume":"38","author":"Oprescu","year":"2017","journal-title":"Hum Mutat"},{"key":"2025041601024607800_B49","doi-asserted-by":"publisher","first-page":"e0178125","DOI":"10.1371\/journal.pone.0178125","article-title":"Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction","volume":"12","author":"Nafisinia","year":"2017","journal-title":"PLoS One"}],"container-title":["Nucleic Acids Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/nar\/article-pdf\/53\/6\/gkaf201\/62522801\/gkaf201.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/nar\/article-pdf\/53\/6\/gkaf201\/62522801\/gkaf201.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T01:03:57Z","timestamp":1744765437000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/nar\/article\/doi\/10.1093\/nar\/gkaf201\/8090311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,20]]},"references-count":49,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,3,20]]}},"URL":"https:\/\/doi.org\/10.1093\/nar\/gkaf201","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.10.11.617948","asserted-by":"object"}]},"ISSN":["0305-1048","1362-4962"],"issn-type":[{"value":"0305-1048","type":"print"},{"value":"1362-4962","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,4,11]]},"published":{"date-parts":[[2025,3,20]]},"article-number":"gkaf201"}}