{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T13:45:16Z","timestamp":1787060716518,"version":"build-2736575974"},"reference-count":146,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T00:00:00Z","timestamp":1683849600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurosci."],"abstract":"<jats:p>\n                    Aminoacyl-tRNA synthetases (ARSs) play an essential role in protein synthesis, being responsible for ligating tRNA molecules to their corresponding amino acids in a reaction known as \u2018tRNA aminoacylation\u2019. Separate ARSs carry out the aminoacylation reaction in the cytosol and in mitochondria, and mutations in almost all ARS genes cause pathophysiology most evident in the nervous system. Dominant mutations in multiple cytosolic ARSs have been linked to forms of peripheral neuropathy including Charcot-Marie-Tooth disease, distal hereditary motor neuropathy, and spinal muscular atrophy. This review provides an overview of approaches that have been employed to model each of these diseases\n                    <jats:italic>in vivo<\/jats:italic>\n                    , followed by a discussion of the existing animal models of dominant ARS disorders and key mechanistic insights that they have provided. In summary, ARS disease models have demonstrated that loss of canonical ARS function alone cannot fully account for the observed disease phenotypes, and that pathogenic ARS variants cause developmental defects within the peripheral nervous system, despite a typically later onset of disease in humans. In addition, aberrant interactions between mutant ARSs and other proteins have been shown to contribute to the disease phenotypes. These findings provide a strong foundation for future research into this group of diseases, providing methodological guidance for studies on ARS disorders that currently lack\n                    <jats:italic>in vivo<\/jats:italic>\n                    models, as well as identifying candidate therapeutic targets.\n                  <\/jats:p>","DOI":"10.3389\/fnins.2023.1182845","type":"journal-article","created":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T01:45:30Z","timestamp":1683855930000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models"],"prefix":"10.3389","volume":"17","author":[{"given":"Elizabeth","family":"Kalotay","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Klugmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary D.","family":"Housley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominik","family":"Fr\u00f6hlich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,5,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1002\/humu.23380","article-title":"Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy","volume":"39","author":"Abbott","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref2","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/jhg.2009.25","article-title":"The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-tooth neuropathy","volume":"54","author":"Abe","year":"2009","journal-title":"J. Hum. Genet."},{"key":"ref3","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":"ref4","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":"ref5","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":"ref6","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/nature21380","article-title":"EPRS is a critical mTORC1-S6K1 effector that influences adiposity in mice","volume":"542","author":"Arif","year":"2017","journal-title":"Nature"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1242\/bio.019273","article-title":"Metabolite profile of a mouse model of Charcot-Marie-tooth type 2D neuropathy: implications for disease mechanisms and interventions","volume":"5","author":"Bais","year":"2016","journal-title":"Biol. Open"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"1899","DOI":"10.1007\/s00415-015-7778-4","article-title":"Genotype\/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland","volume":"262","author":"Bansagi","year":"2015","journal-title":"J. Neurol."},{"key":"ref9","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":"ref10","doi-asserted-by":"publisher","first-page":"5045","DOI":"10.1038\/s41467-019-12909-9","article-title":"Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-tooth neuropathy","volume":"10","author":"Bervoets","year":"2019","journal-title":"Nat. Commun."},{"key":"ref11","doi-asserted-by":"publisher","first-page":"8091","DOI":"10.1093\/nar\/gkx455","article-title":"Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy","volume":"45","author":"Blocquel","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"ref12","doi-asserted-by":"publisher","first-page":"19440","DOI":"10.1073\/pnas.1908288116","article-title":"CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells","volume":"116","author":"Blocquel","year":"2019","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref13","doi-asserted-by":"publisher","first-page":"2187","DOI":"10.1093\/hmg\/ddy127","article-title":"Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons","volume":"27","author":"Boczonadi","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref14","doi-asserted-by":"publisher","first-page":"2959","DOI":"10.1016\/j.febslet.2007.05.046","article-title":"Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy","volume":"581","author":"Cader","year":"2007","journal-title":"FEBS Lett."},{"key":"ref15","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":"ref16","doi-asserted-by":"publisher","first-page":"8516285","DOI":"10.1155\/2018\/8516285","article-title":"Glycyl tRNA Synthetase (GARS) gene variant causes distal hereditary motor neuropathy V","volume":"2018","author":"Chung","year":"2018","journal-title":"Case Rep. Pediatr."},{"key":"ref17","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1080\/21678421.2018.1556699","article-title":"Typical bulbar ALS can be linked to GARS mutation","volume":"20","author":"Corcia","year":"2019","journal-title":"Amyotroph Lateral Scler. Frontotemporal Degener."},{"key":"ref18","doi-asserted-by":"publisher","first-page":"752","DOI":"10.1212\/01.wnl.0000201275.18875.ac","article-title":"Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation","volume":"66","author":"Del Bo","year":"2006","journal-title":"Neurology"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1038\/nature19356","article-title":"High-throughput discovery of novel developmental phenotypes","volume":"537","author":"Dickinson","year":"2016","journal-title":"Nature"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"1721","DOI":"10.1212\/01.wnl.0000218304.02715.04","article-title":"The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V","volume":"66","author":"Dubourg","year":"2006","journal-title":"Neurology"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"684714","DOI":"10.3389\/fnmol.2021.684714","article-title":"HDAC6: a key link between mitochondria and development of peripheral neuropathy","volume":"14","author":"English","year":"2021","journal-title":"Front. Mol. Neurosci."},{"key":"ref22","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":"ref23","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1111\/j.1529-8027.2012.00370.x","article-title":"Infantile onset CMT2D\/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS","volume":"17","author":"Eskuri","year":"2012","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref24","doi-asserted-by":"publisher","first-page":"7132","DOI":"10.1021\/bi200989h","article-title":"Dominant intermediate Charcot-Marie-tooth disorder is not due to a catalytic defect in tyrosyl-tRNA synthetase","volume":"50","author":"Froelich","year":"2011","journal-title":"Biochemistry"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"625879","DOI":"10.3389\/fncel.2020.625879","article-title":"A Hypomorphic Dars1 (D367Y) model recapitulates key aspects of the leukodystrophy HBSL","volume":"14","author":"Fr\u00f6hlich","year":"2020","journal-title":"Front. Cell. Neurosci."},{"key":"ref26","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.nbd.2016.10.008","article-title":"In vivocharacterization of the aspartyl-tRNA synthetase DARS: homing in on the leukodystrophy HBSL","volume":"97","author":"Fr\u00f6hlich","year":"2017","journal-title":"Neurobiol. Dis."},{"key":"ref27","doi-asserted-by":"publisher","first-page":"81","DOI":"10.3389\/fnmol.2018.00081","article-title":"Expression pattern of the aspartyl-tRNA Synthetase DARS in the human brain","volume":"11","author":"Fr\u00f6hlich","year":"2018","journal-title":"Front. Mol. Neurosci."},{"key":"ref28","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1038\/s41436-018-0048-y","article-title":"Aminoacyl-tRNA synthetase deficiencies in search of common themes","volume":"21","author":"Fuchs","year":"2019","journal-title":"Genet. Med."},{"key":"ref29","doi-asserted-by":"publisher","first-page":"1232","DOI":"10.1002\/humu.24024","article-title":"Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome","volume":"41","author":"Galatolo","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref30","doi-asserted-by":"publisher","first-page":"333","DOI":"10.3233\/jnd-190404","article-title":"A novel mutation in MARS in a patient with Charcot-Marie-tooth disease, axonal, type 2U with congenital onset","volume":"6","author":"Gillespie","year":"2019","journal-title":"J. Neuromuscul. Dis."},{"key":"ref31","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1016\/j.celrep.2015.07.023","article-title":"Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy","volume":"12","author":"Gonzaga-Jauregui","year":"2015","journal-title":"Cell Rep."},{"key":"ref32","doi-asserted-by":"publisher","first-page":"1247","DOI":"10.1136\/jnnp-2013-305049","article-title":"Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2","volume":"84","author":"Gonzalez","year":"2013","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref33","doi-asserted-by":"publisher","first-page":"4397","DOI":"10.1093\/hmg\/ddv176","article-title":"Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology","volume":"24","author":"Grice","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref34","doi-asserted-by":"publisher","first-page":"55","DOI":"10.3389\/fnmol.2018.00055","article-title":"Plexin-semaphorin signaling modifies neuromuscular defects in a Drosophila model of peripheral neuropathy","volume":"11","author":"Grice","year":"2018","journal-title":"Front. Mol. Neurosci."},{"key":"ref35","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":"ref36","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/s1534-5807(03)00169-2","article-title":"Neuropilin-1 conveys semaphorin and VEGF signaling during neural and cardiovascular development","volume":"5","author":"Gu","year":"2003","journal-title":"Dev. Cell"},{"key":"ref37","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1038\/nchembio.1158","article-title":"Essential nontranslational functions of tRNA synthetases","volume":"9","author":"Guo","year":"2013","journal-title":"Nat. Chem. Biol."},{"key":"ref38","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1097\/wco.0000000000000237","article-title":"Update on Charcot-Marie-tooth disease","volume":"28","author":"Gutmann","year":"2015","journal-title":"Curr. Opin. Neurol."},{"key":"ref39","doi-asserted-by":"publisher","first-page":"1202","DOI":"10.1007\/s00415-010-5491-x","article-title":"Charcot-Marie-tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation","volume":"257","author":"Hamaguchi","year":"2010","journal-title":"J. Neurol."},{"key":"ref40","doi-asserted-by":"publisher","first-page":"710","DOI":"10.1038\/nature15510","article-title":"CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase","volume":"526","author":"He","year":"2015","journal-title":"Nature"},{"key":"ref41","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1002\/ana.26501","article-title":"Heterozygous seryl-tRNA synthetase 1 variants cause Charcot-Marie-tooth disease","volume":"93","author":"He","year":"2022","journal-title":"Ann. Neurol."},{"key":"ref42","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1002\/ana.26501","article-title":"Heterozygous Seryl-tRNA synthetase 1 variants cause Charcot-Marie-tooth disease","volume":"93","author":"He","year":"2023","journal-title":"Ann. Neurol."},{"key":"ref43","doi-asserted-by":"publisher","first-page":"12307","DOI":"10.1073\/pnas.1104293108","article-title":"Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening","volume":"108","author":"He","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref44","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1111\/joa.13605","article-title":"Precision mouse models of Yars\/dominant intermediate Charcot-Marie-tooth disease type C and Sptlc1\/hereditary sensory and autonomic neuropathy type 1","volume":"241","author":"Hines","year":"2021","journal-title":"J. Anat."},{"key":"ref45","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1111\/jns.12193","article-title":"Histopathological features of a patient with Charcot-Marie-tooth disease type 2U\/AD-CMTax-MARS","volume":"21","author":"Hirano","year":"2016","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref46","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1186\/s12883-022-02828-6","article-title":"Clinical characteristics and proteome modifications in two Charcot-Marie-tooth families with the AARS1 Arg326Trp mutation","volume":"22","author":"H\u00f8yer","year":"2022","journal-title":"BMC Neurol."},{"key":"ref47","doi-asserted-by":"publisher","first-page":"1090","DOI":"10.1002\/acn3.50797","article-title":"Mutation spectrum of Charcot-Marie-tooth disease among the Han Chinese in Taiwan","volume":"6","author":"Hsu","year":"2019","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref48","doi-asserted-by":"publisher","first-page":"e1846","DOI":"10.1002\/mgg3.1846","article-title":"Infantile-onset CMT2D\/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene","volume":"10","author":"Huang","year":"2022","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref49","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1146\/annurev.biochem.72.121801.161629","article-title":"Trk receptors: roles in neuronal signal transduction","volume":"72","author":"Huang","year":"2003","journal-title":"Annu. Rev. Biochem."},{"key":"ref50","doi-asserted-by":"publisher","first-page":"935721","DOI":"10.3389\/fped.2022.935721","article-title":"Case report: early-onset Charcot-Marie-tooth 2N with reversible White matter lesions repeatedly mimicked stroke or encephalitis","volume":"10","author":"Huang","year":"2022","journal-title":"Front. Pediatr."},{"key":"ref51","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1111\/cge.12327","article-title":"Rare variants in methionyl-and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-tooth neuropathy","volume":"86","author":"Hyun","year":"2014","journal-title":"Clin. Genet."},{"key":"ref52","doi-asserted-by":"publisher","first-page":"104029","DOI":"10.1016\/j.dib.2019.104029","article-title":"Data on the effects of Charcot-Marie-tooth disease type 2N-associated AARS missense mutation (Arg329-to-his) on the cell biological properties","volume":"25","author":"Imaizumi","year":"2019","journal-title":"Data Brief."},{"key":"ref53","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":"ref54","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1038\/ng1727","article-title":"Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-tooth neuropathy","volume":"38","author":"Jordanova","year":"2006","journal-title":"Nat. Genet."},{"key":"ref55","doi-asserted-by":"publisher","first-page":"1871","DOI":"10.1083\/jcb.201702187","article-title":"Deacetylation of Miro1 by HDAC6 blocks mitochondrial transport and mediates axon growth inhibition","volume":"218","author":"Kalinski","year":"2019","journal-title":"J. Cell Biol."},{"key":"ref56","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1016\/j.tig.2017.12.007","article-title":"mRNA translation gone awry: translation fidelity and neurological disease","volume":"34","author":"Kapur","year":"2018","journal-title":"Trends Genet."},{"key":"ref57","doi-asserted-by":"publisher","first-page":"911","DOI":"10.5692\/clinicalneurol.54.911","article-title":"A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-tooth disease type 2D with facial and respiratory muscle involvement","volume":"54","author":"Kawakami","year":"2014","journal-title":"Rinsho Shinkeigaku"},{"key":"ref58","doi-asserted-by":"publisher","first-page":"1972","DOI":"10.1007\/s11064-022-03582-4","article-title":"Developmental delay and late onset HBSL pathology in hypomorphic Dars1(M256L) mice","volume":"47","author":"Klugmann","year":"2022","journal-title":"Neurochem. Res."},{"key":"ref59","doi-asserted-by":"publisher","first-page":"26","DOI":"10.12703\/p7-26","article-title":"Angiogenesis versus arteriogenesis: neuropilin 1 modulation of VEGF signaling","volume":"7","author":"Kofler","year":"2015","journal-title":"F1000Prime Rep."},{"key":"ref60","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1007\/s12311-019-01080-y","article-title":"Alanyl-tRNA Synthetase 2 (AARS2)-related ataxia without leukoencephalopathy","volume":"19","author":"Kuo","year":"2020","journal-title":"Cerebellum"},{"key":"ref61","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.ajhg.2009.12.005","article-title":"A major determinant for binding and aminoacylation of tRNA(ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-tooth disease","volume":"86","author":"Latour","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"ref62","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1038\/nature05096","article-title":"Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration","volume":"443","author":"Lee","year":"2006","journal-title":"Nature"},{"key":"ref63","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1111\/jns.12353","article-title":"A recurrent GARS mutation causes distal hereditary motor neuropathy","volume":"24","author":"Lee","year":"2019","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref64","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1007\/s13258-020-00933-9","article-title":"Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-tooth neuropathy","volume":"42","author":"Lee","year":"2020","journal-title":"Genes Genomics"},{"key":"ref65","doi-asserted-by":"publisher","first-page":"486","DOI":"10.4103\/1673-5374.202920","article-title":"Anatomical distributional defects in mutant genes associated with dominant intermediate Charcot-Marie-tooth disease type C in an adenovirus-mediated mouse model","volume":"12","author":"Lee","year":"2017","journal-title":"Neural Regen. Res."},{"key":"ref66","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. Peripher. Nerv. Syst."},{"key":"ref67","doi-asserted-by":"publisher","first-page":"1138","DOI":"10.3346\/jkms.2014.29.8.1138","article-title":"Neuropathic pain model of peripheral neuropathies mediated by mutations of glycyl-tRNA synthetase","volume":"29","author":"Lee","year":"2014","journal-title":"J. Korean Med. Sci."},{"key":"ref68","doi-asserted-by":"publisher","first-page":"1661","DOI":"10.1007\/s00726-011-0868-4","article-title":"Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT","volume":"42","author":"Leit\u00e3o-Gon\u00e7alves","year":"2012","journal-title":"Amino Acids"},{"key":"ref69","doi-asserted-by":"publisher","first-page":"e0133423","DOI":"10.1371\/journal.pone.0133423","article-title":"Two novel De novo GARS mutations cause early-onset axonal Charcot-Marie-tooth disease","volume":"10","author":"Liao","year":"2015","journal-title":"PLoS One"},{"key":"ref70","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1016\/j.conb.2020.12.014","article-title":"Semaphorins and Plexins in central nervous system patterning: the key to it all?","volume":"66","author":"Limoni","year":"2021","journal-title":"Curr. Opin. Neurobiol."},{"key":"ref71","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1126\/science.1252943","article-title":"Human tRNA synthetase catalytic nulls with diverse functions","volume":"345","author":"Lo","year":"2014","journal-title":"Science"},{"key":"ref72","doi-asserted-by":"publisher","first-page":"1528","DOI":"10.1093\/hmg\/ddw031","article-title":"Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease","volume":"25","author":"Malissovas","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref73","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1016\/j.ajhg.2020.06.016","article-title":"De novo and Bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects","volume":"107","author":"Manole","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"ref74","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":"Am. J. Med. Genet. A"},{"key":"ref75","doi-asserted-by":"publisher","first-page":"2269","DOI":"10.1007\/s13311-021-01099-2","article-title":"Axonal Charcot-Marie-tooth disease: from common pathogenic mechanisms to emerging treatment opportunities","volume":"18","author":"McCray","year":"2021","journal-title":"Neurotherapeutics"},{"key":"ref76","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1002\/humu.21635","article-title":"A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-tooth disease type 2N (CMT2N)","volume":"33","author":"McLaughlin","year":"2012","journal-title":"Hum. Mutat."},{"key":"ref77","doi-asserted-by":"publisher","first-page":"10007","DOI":"10.1093\/nar\/gkab730","article-title":"Charcot-Marie-tooth mutation in glycyl-tRNA synthetase stalls ribosomes in a pre-accommodation state and activates integrated stress response","volume":"49","author":"Mendonsa","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"ref78","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1002\/humu.24372","article-title":"Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes","volume":"43","author":"Meyer","year":"2022","journal-title":"Hum. Mutat."},{"key":"ref79","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1111\/febs.15538","article-title":"Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy","volume":"288","author":"Meyer-Schuman","year":"2021","journal-title":"FEBS J."},{"key":"ref80","doi-asserted-by":"publisher","first-page":"23725","DOI":"10.3390\/ijms151223725","article-title":"Regulation of angiogenesis by aminoacyl-tRNA synthetases","volume":"15","author":"Mirando","year":"2014","journal-title":"Int. J. Mol. Sci."},{"key":"ref81","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":"ref82","doi-asserted-by":"publisher","first-page":"812","DOI":"10.1038\/nn1283","article-title":"Expressing TrkC from the TrkA locus causes a subset of dorsal root ganglia neurons to switch fate","volume":"7","author":"Moqrich","year":"2004","journal-title":"Nat. Neurosci."},{"key":"ref83","doi-asserted-by":"publisher","first-page":"1519","DOI":"10.3390\/genes12101519","article-title":"Drosophila models for Charcot-Marie-tooth neuropathy related to aminoacyl-tRNA synthetases","volume":"12","author":"Morant","year":"2021","journal-title":"Genes"},{"key":"ref84","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":"ref85","doi-asserted-by":"publisher","first-page":"2040","DOI":"10.1212\/wnl.0000000000001583","article-title":"A novel AARS mutation in a family with dominant myeloneuropathy","volume":"84","author":"Motley","year":"2015","journal-title":"Neurology"},{"key":"ref86","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":"ref87","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1111\/febs.15449","article-title":"Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish","volume":"288","author":"Mullen","year":"2021","journal-title":"FEBS J."},{"key":"ref88","doi-asserted-by":"publisher","first-page":"626610","DOI":"10.3389\/fncel.2020.626610","article-title":"The leukodystrophies HBSL and LBSL-correlates and distinctions","volume":"14","author":"Muthiah","year":"2020","journal-title":"Front. Cell. Neurosci."},{"key":"ref89","doi-asserted-by":"publisher","first-page":"382","DOI":"10.14348\/molcells.2016.2288","article-title":"Identification of genetic causes of inherited peripheral neuropathies by targeted gene panel sequencing","volume":"39","author":"Nam","year":"2016","journal-title":"Mol. Cells"},{"key":"ref90","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1111\/jns.12289","article-title":"Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-tooth disease","volume":"24","author":"Nan","year":"2019","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref91","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.1016\/j.chembiol.2006.08.011","article-title":"Global effects of mistranslation from an editing defect in mammalian cells","volume":"13","author":"Nangle","year":"2006","journal-title":"Chem. Biol."},{"key":"ref92","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. U. S. A."},{"key":"ref93","doi-asserted-by":"publisher","first-page":"E3631","DOI":"10.1073\/pnas.1402449111","article-title":"Loss of Miro1-directed mitochondrial movement results in a novel murine model for neuron disease","volume":"111","author":"Nguyen","year":"2014","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref94","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1038\/s41419-019-2145-5","article-title":"Roles of aminoacyl-tRNA synthetases in immune regulation and immune diseases","volume":"10","author":"Nie","year":"2019","journal-title":"Cell Death Dis."},{"key":"ref95","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":"ref96","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1080\/15476286.2017.1330245","article-title":"Human aminoacyl-tRNA synthetases in diseases of the nervous system","volume":"15","author":"Ognjenovic","year":"2018","journal-title":"RNA Biol."},{"key":"ref97","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1038\/88842","article-title":"Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration","volume":"28","author":"Oosthuyse","year":"2001","journal-title":"Nat. Genet."},{"key":"ref98","doi-asserted-by":"publisher","first-page":"fcab252","DOI":"10.1093\/braincomms\/fcab252","article-title":"AAV1.NT-3 gene therapy in a CMT2D model: phenotypic improvements in gars (P278KY\/+) mice","volume":"3","author":"Ozes","year":"2021","journal-title":"Brain Commun."},{"key":"ref99","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1016\/j.brainres.2016.04.010","article-title":"Protein folding alterations in amyotrophic lateral sclerosis","volume":"1648","author":"Parakh","year":"2016","journal-title":"Brain Res."},{"key":"ref100","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/128_2013_456","article-title":"Synthetic and editing mechanisms of aminoacyl-tRNA synthetases","volume":"344","author":"Perona","year":"2014","journal-title":"Top. Curr. Chem."},{"key":"ref101","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4103\/0972-2327.53075","article-title":"Classification and diagnosis of the inherited neuropathies","volume":"12","author":"Reilly","year":"2009","journal-title":"Ann. Indian Acad. Neurol."},{"key":"ref102","doi-asserted-by":"publisher","first-page":"1855","DOI":"10.1016\/j.jaci.2020.12.637","article-title":"Mutation in KARS: a novel mechanism for severe anaphylaxis","volume":"147","author":"Rib\u00f3","year":"2021","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref103","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1016\/j.ejmg.2018.04.005","article-title":"MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-tooth disease","volume":"61","author":"Rips","year":"2018","journal-title":"Eur. J. Med. Genet."},{"key":"ref104","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/j.jns.2007.06.047","article-title":"Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and silver syndrome","volume":"263","author":"Rohkamm","year":"2007","journal-title":"J. Neurol. Sci."},{"key":"ref105","doi-asserted-by":"publisher","first-page":"1072","DOI":"10.1002\/acn3.791","article-title":"Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant","volume":"6","author":"Royer-Bertrand","year":"2019","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref106","doi-asserted-by":"publisher","first-page":"2161","DOI":"10.1093\/brain\/awv158","article-title":"Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies","volume":"138","author":"Safka Brozkova","year":"2015","journal-title":"Brain"},{"key":"ref107","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1111\/jns.12264","article-title":"Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-tooth neuropathy type 2U","volume":"23","author":"Sagi-Dain","year":"2018","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref108","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1038\/mt.2013.250","article-title":"AAV1.NT-3 gene therapy for charcot-marie-tooth neuropathy","volume":"22","author":"Sahenk","year":"2014","journal-title":"Mol. Ther."},{"key":"ref109","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":"ref110","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1016\/j.jchemneu.2014.09.001","article-title":"GRS defective axonal distribution as a potential contributor to distal spinal muscular atrophy type V pathogenesis in a new model of GRS-associated neuropathy","author":"Seo","year":"","journal-title":"J. Chem. Neuroanat."},{"key":"ref111","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1007\/s10735-013-9537-0","article-title":"A novel adenoviral vector-mediated mouse model of Charcot-Marie-tooth type 2D (CMT2D)","volume":"45","author":"Seo","year":"","journal-title":"J. Mol. Histol."},{"key":"ref112","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1111\/j.1460-9568.2009.07032.x","article-title":"Investigation of neuromuscular abnormalities in neurotrophin-3-deficient mice","volume":"31","author":"Sheard","year":"2010","journal-title":"Eur. J. Neurosci."},{"key":"ref113","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":"ref114","doi-asserted-by":"publisher","first-page":"E3324","DOI":"10.1073\/pnas.1614557114","article-title":"Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by gars mutations","volume":"114","author":"Sleigh","year":"","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref115","doi-asserted-by":"publisher","first-page":"9216","DOI":"10.1038\/s41598-017-10005-w","article-title":"Neuropilin 1 sequestration by neuropathogenic mutant glycyl-tRNA synthetase is permissive to vascular homeostasis","volume":"7","author":"Sleigh","year":"","journal-title":"Sci. Rep."},{"key":"ref116","doi-asserted-by":"publisher","first-page":"2639","DOI":"10.1093\/hmg\/ddt659","article-title":"Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-tooth type 2D mice","volume":"23","author":"Sleigh","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref117","doi-asserted-by":"publisher","first-page":"232","DOI":"10.3389\/fncel.2020.00232","article-title":"Altered sensory neuron development in CMT2D mice is site-specific and linked to increased GlyRS levels","volume":"14","author":"Sleigh","year":"","journal-title":"Front. Cell. Neurosci."},{"key":"ref118","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1038\/s41419-020-02798-y","article-title":"Developmental demands contribute to early neuromuscular degeneration in CMT2D mice","volume":"11","author":"Sleigh","year":"","journal-title":"Cell Death Dis."},{"key":"ref119","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1038\/s41582-019-0257-2","article-title":"Axonal transport and neurological disease","volume":"15","author":"Sleigh","year":"2019","journal-title":"Nat. Rev. Neurol."},{"key":"ref120","doi-asserted-by":"publisher","first-page":"200","DOI":"10.12688\/f1000research.10433.1","article-title":"Methodological advances in imaging intravital axonal transport","volume":"6","author":"Sleigh","year":"","journal-title":"F1000Res"},{"key":"ref121","doi-asserted-by":"publisher","first-page":"e2101308","DOI":"10.1002\/adbi.202101308","article-title":"HDAC6 inhibition corrects electrophysiological and axonal transport deficits in a human stem cell-based model of Charcot-Marie-tooth disease (type 2D)","volume":"6","author":"Smith","year":"2021","journal-title":"Adv. Biol."},{"key":"ref122","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":"ref123","doi-asserted-by":"publisher","first-page":"3254","DOI":"10.1523\/jneurosci.1762-15.2016","article-title":"Synaptic deficits at neuromuscular junctions in two mouse models of Charcot-Marie-tooth type 2d","volume":"36","author":"Spaulding","year":"2016","journal-title":"J. Neurosci."},{"key":"ref124","doi-asserted-by":"publisher","first-page":"11782","DOI":"10.1073\/pnas.0905339106","article-title":"Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-tooth neuropathy","volume":"106","author":"Storkebaum","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref125","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1016\/j.mcn.2010.11.006","article-title":"An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations","volume":"46","author":"Stum","year":"2011","journal-title":"Mol. Cell. Neurosci."},{"key":"ref126","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1179\/1743132815y.0000000055","article-title":"A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-tooth type 2D in a Chinese family","volume":"37","author":"Sun","year":"2015","journal-title":"Neurol. Res."},{"key":"ref127","doi-asserted-by":"publisher","first-page":"14300","DOI":"10.1073\/pnas.1617316113","article-title":"Two crystal structures reveal design for repurposing the C-Ala domain of human AlaRS","volume":"113","author":"Sun","year":"2016","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref128","doi-asserted-by":"publisher","first-page":"e2012898118","DOI":"10.1073\/pnas.2012898118","article-title":"CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS","volume":"118","author":"Sun","year":"2021","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref129","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1186\/s40478-019-0843-y","article-title":"An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids","volume":"7","author":"Sundal","year":"2019","journal-title":"Acta Neuropathol. Commun."},{"key":"ref130","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.neures.2018.09.016","article-title":"CMT type 2N disease-associated AARS mutant inhibits neurite growth that can be reversed by valproic acid","volume":"139","author":"Tatsumi","year":"2019","journal-title":"Neurosci. Res."},{"key":"ref131","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1007\/s00415-015-7989-8","article-title":"Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-tooth type C neuropathy","volume":"263","author":"Thomas","year":"2016","journal-title":"J. Neurol."},{"key":"ref132","doi-asserted-by":"publisher","first-page":"1252","DOI":"10.1093\/brain\/awx058","article-title":"A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy","volume":"140","author":"Tsai","year":"2017","journal-title":"Brain"},{"key":"ref133","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1002\/humu.22210","article-title":"A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo","volume":"34","author":"Vester","year":"2013","journal-title":"Hum. Mutat."},{"key":"ref134","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1111\/cge.13563","article-title":"A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family","volume":"96","author":"Wang","year":"2019","journal-title":"Clin. Genet."},{"key":"ref135","doi-asserted-by":"publisher","first-page":"5321","DOI":"10.1074\/jbc.REV118.002955","article-title":"Neurodegenerative Charcot-Marie-tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases","volume":"294","author":"Wei","year":"2019","journal-title":"J. Biol. Chem."},{"key":"ref136","doi-asserted-by":"publisher","first-page":"4036","DOI":"10.1093\/hmg\/ddy290","article-title":"Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities","volume":"27","author":"Weterman","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref137","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. U. S. A."},{"key":"ref138","doi-asserted-by":"publisher","first-page":"e00782","DOI":"10.1002\/mgg3.782","article-title":"A novel mutation in the GARS gene in a Malian family with Charcot-Marie-tooth disease","volume":"7","author":"Yalcouy\u00e9","year":"2019","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref139","doi-asserted-by":"publisher","first-page":"8774","DOI":"10.1073\/pnas.0402795101","article-title":"Neurotrophins regulate Schwann cell migration by activating divergent signaling pathways dependent on Rho GTPases","volume":"101","author":"Yamauchi","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref140","doi-asserted-by":"publisher","first-page":"571","DOI":"10.3389\/fneur.2018.00571","article-title":"A novel mutation of GARS in a Chinese family with distal hereditary motor neuropathy type V","volume":"9","author":"Yu","year":"2018","journal-title":"Front. Neurol."},{"key":"ref141","doi-asserted-by":"publisher","first-page":"271","DOI":"10.5414\/np301489","article-title":"Distal hereditary neuropathy associated with a novel mutation in alanyl-aminoacyl-tRNA synthetase","volume":"41","author":"Yuan","year":"2022","journal-title":"Clin. Neuropathol."},{"key":"ref142","doi-asserted-by":"publisher","first-page":"1501","DOI":"10.1080\/15476286.2020.1861803","article-title":"The uniqueness of AlaRS and its human disease connections","volume":"18","author":"Zhang","year":"","journal-title":"RNA Biol."},{"key":"ref143","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1111\/jnc.15249","article-title":"Aminoacyl-tRNA synthetases in Charcot\u2013Marie\u2013tooth disease: a gain or a loss?","volume":"157","author":"Zhang","year":"","journal-title":"J. Neurochem."},{"key":"ref144","doi-asserted-by":"publisher","first-page":"1644","DOI":"10.1212\/WNL.0b013e3182574f8f","article-title":"Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy","volume":"78","author":"Zhao","year":"2012","journal-title":"Neurology"},{"key":"ref145","doi-asserted-by":"publisher","first-page":"e13391","DOI":"10.1111\/acel.13391","article-title":"SIRT2-knockdown rescues GARS-induced Charcot-Marie-tooth neuropathy","volume":"20","author":"Zhao","year":"2021","journal-title":"Aging Cell"},{"key":"ref146","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"}],"container-title":["Frontiers in Neuroscience"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fnins.2023.1182845\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T09:30:50Z","timestamp":1684402250000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fnins.2023.1182845\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,12]]},"references-count":146,"alternative-id":["10.3389\/fnins.2023.1182845"],"URL":"https:\/\/doi.org\/10.3389\/fnins.2023.1182845","relation":{},"ISSN":["1662-453X"],"issn-type":[{"value":"1662-453X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,12]]},"article-number":"1182845"}}