{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T22:20:24Z","timestamp":1791066024300,"version":"4.1.0"},"reference-count":45,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2011,2,1]],"date-time":"2011-02-01T00:00:00Z","timestamp":1296518400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche Medicale, France","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["NS054154"],"award-info":[{"award-number":["NS054154"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["NS060983"],"award-info":[{"award-number":["NS060983"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["NS042613"],"award-info":[{"award-number":["NS042613"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000971","name":"Amyotropic Lateral Sclerosis Association","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000971","id-type":"DOI","asserted-by":"crossref"}]},{"name":"NCI Cancer Center","award":["CA034196"],"award-info":[{"award-number":["CA034196"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular and Cellular Neuroscience"],"published-print":{"date-parts":[[2011,2]]},"DOI":"10.1016\/j.mcn.2010.11.006","type":"journal-article","created":{"date-parts":[[2010,11,30]],"date-time":"2010-11-30T06:00:49Z","timestamp":1291096849000},"page":"432-443","source":"Crossref","is-referenced-by-count":65,"title":["An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations"],"prefix":"10.1016","volume":"46","author":[{"given":"Morgane","family":"Stum","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather M.","family":"McLaughlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica L.","family":"Kleinbrink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy E.","family":"Miers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan L.","family":"Ackerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin L.","family":"Seburn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Antonellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W.","family":"Burgess","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mcn.2010.11.006_bb0005","doi-asserted-by":"crossref","unstructured":"Achilli, F., Bros-Facer, V., Williams, H.P., Banks, G.T., Alqatari, M., Chia, R., Tucci, V., Groves, M., Nickols, C.D., Seburn, K.L., Kendall, R., Cader, M.Z., Talbot, K., van Minnen, J., Burgess, R.W., Brandner, S., Martin, J.E., Koltzenburg, M., Greensmith, L., Nolan, P.M., Fisher, E.M., 2009. An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot\u2013Marie\u2013Tooth type 2D peripheral neuropathy. Disease models & mechanisms.","DOI":"10.1242\/dmm.002527"},{"key":"10.1016\/j.mcn.2010.11.006_bb0010","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1086\/375039","article-title":"Glycyl tRNA synthetase mutations in Charcot\u2013Marie\u2013Tooth disease type 2D and distal spinal muscular atrophy type V","volume":"72","author":"Antonellis","year":"2003","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.mcn.2010.11.006_bb0015","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1146\/annurev.genom.9.081307.164204","article-title":"The role of aminoacyl-tRNA synthetases in genetic diseases","volume":"9","author":"Antonellis","year":"2008","journal-title":"Annual Review of Genomics and Human Genetics"},{"key":"10.1016\/j.mcn.2010.11.006_bb0020","doi-asserted-by":"crossref","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":"The Journal of Neuroscience"},{"key":"10.1016\/j.mcn.2010.11.006_bb0025","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1006\/jmbi.1999.2562","article-title":"Glycyl-tRNA synthetase uses a negatively charged pit for specific recognition and activation of glycine","volume":"286","author":"Arnez","year":"1999","journal-title":"Journal of Molecular Biology"},{"key":"10.1016\/j.mcn.2010.11.006_bb0030","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1002\/cne.20321","article-title":"Acute demyelination disrupts the molecular organization of peripheral nervous system nodes","volume":"479","author":"Arroyo","year":"2004","journal-title":"The Journal of Comparative Neurology"},{"key":"10.1016\/j.mcn.2010.11.006_bb0035","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1038\/nature06454","article-title":"Distinct domains of tRNA synthetase recognize the same base pair","volume":"451","author":"Beebe","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.mcn.2010.11.006_bb0040","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1002\/ana.410410409","article-title":"Clinical and pathological phenotype of the original family with Charcot\u2013Marie\u2013Tooth type 1B: a 20-year study","volume":"41","author":"Bird","year":"1997","journal-title":"Annals of Neurology"},{"key":"10.1016\/j.mcn.2010.11.006_bb0045","doi-asserted-by":"crossref","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":"Nature Neuroscience"},{"key":"10.1016\/j.mcn.2010.11.006_bb0050","doi-asserted-by":"crossref","first-page":"9985","DOI":"10.1073\/pnas.95.17.9985","article-title":"An 85-kb tandem triplication in the slow Wallerian degeneration (Wlds) mouse","volume":"95","author":"Coleman","year":"1998","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.mcn.2010.11.006_bb0055","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1086\/521227","article-title":"Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia","volume":"81","author":"Edvardson","year":"2007","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.mcn.2010.11.006_bb0060","doi-asserted-by":"crossref","first-page":"14646","DOI":"10.1523\/JNEUROSCI.2536-09.2009","article-title":"Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1","volume":"29","author":"Eichler","year":"2009","journal-title":"The Journal of Neuroscience"},{"key":"10.1016\/j.mcn.2010.11.006_bb0065","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/S0960-9822(03)00206-9","article-title":"Inhibiting axon degeneration and synapse loss attenuates apoptosis and disease progression in a mouse model of motoneuron disease","volume":"13","author":"Ferri","year":"2003","journal-title":"Current Biology"},{"key":"10.1016\/j.mcn.2010.11.006_bb0070","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1152\/physrev.00051.2006","article-title":"Local gene expression in axons and nerve endings: the glia\u2013neuron unit","volume":"88","author":"Giuditta","year":"2008","journal-title":"Physiological Reviews"},{"key":"10.1016\/j.mcn.2010.11.006_bb0075","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1126\/science.1174343","article-title":"The C-Ala domain brings together editing and aminoacylation functions on one tRNA","volume":"325","author":"Guo","year":"2009","journal-title":"Science (New York, N.Y"},{"key":"10.1016\/j.mcn.2010.11.006_bb0080","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1101\/gad.1187404","article-title":"Aminoacyl-tRNAs: setting the limits of the genetic code","volume":"18","author":"Ibba","year":"2004","journal-title":"Genes & Development"},{"key":"10.1016\/j.mcn.2010.11.006_bb0085","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1136\/jmg.2009.068221","article-title":"DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis","volume":"47","author":"Isohanni","year":"2010","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.mcn.2010.11.006_bb0090","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1128\/MMBR.56.3.412-429.1992","article-title":"Editing of errors in selection of amino acids for protein synthesis","volume":"56","author":"Jakubowski","year":"1992","journal-title":"Microbiological Reviews"},{"key":"10.1016\/j.mcn.2010.11.006_bb0095","doi-asserted-by":"crossref","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":"10.1016\/j.mcn.2010.11.006_bb0100","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/ng1727","article-title":"Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot\u2013Marie\u2013Tooth neuropathy","volume":"38","author":"Jordanova","year":"2006","journal-title":"Nature Genetics"},{"key":"10.1016\/j.mcn.2010.11.006_bb0105","doi-asserted-by":"crossref","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\u2013Marie\u2013Tooth disease","volume":"86","author":"Latour","year":"2010","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.mcn.2010.11.006_bb0110","doi-asserted-by":"crossref","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":"10.1016\/j.mcn.2010.11.006_bb0115","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S0896-6273(00)80896-X","article-title":"Essential roles of Drosophila RhoA in the regulation of neuroblast proliferation and dendritic but not axonal morphogenesis","volume":"25","author":"Lee","year":"2000","journal-title":"Neuron"},{"key":"10.1016\/j.mcn.2010.11.006_bb0120","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.conb.2008.05.004","article-title":"Function and regulation of local axonal translation","volume":"18","author":"Lin","year":"2008","journal-title":"Current Opinion in Neurobiology"},{"key":"10.1016\/j.mcn.2010.11.006_bb0125","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1042\/bj1281353","article-title":"The frequency of errors in protein biosynthesis","volume":"128","author":"Loftfield","year":"1972","journal-title":"The Biochemical Journal"},{"key":"10.1016\/j.mcn.2010.11.006_bb0130","doi-asserted-by":"crossref","first-page":"4156","DOI":"10.1002\/j.1460-2075.1995.tb00089.x","article-title":"Crystal structure of glycyl-tRNA synthetase from Thermus thermophilus","volume":"14","author":"Logan","year":"1995","journal-title":"The EMBO Journal"},{"key":"10.1016\/j.mcn.2010.11.006_bb0135","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1038\/nn770","article-title":"Wallerian degeneration of injured axons and synapses is delayed by a Ube4b\/Nmnat chimeric gene","volume":"4","author":"Mack","year":"2001","journal-title":"Nature Neuroscience"},{"key":"10.1016\/j.mcn.2010.11.006_bb0140","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1016\/j.ajhg.2010.09.008","article-title":"Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy","volume":"87","author":"McLaughlin","year":"2010","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.mcn.2010.11.006_bb0145","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1093\/brain\/awh368","article-title":"The slow Wallerian degeneration gene, WldS, inhibits axonal spheroid pathology in gracile axonal dystrophy mice","volume":"128","author":"Mi","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.mcn.2010.11.006_bb0150","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.tins.2009.11.001","article-title":"GARS axonopathy: not every neuron's cup of tRNA","volume":"33","author":"Motley","year":"2010","journal-title":"Trends in Neurosciences"},{"key":"10.1016\/j.mcn.2010.11.006_bb0155","doi-asserted-by":"crossref","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":"Chemistry & Biology"},{"key":"10.1016\/j.mcn.2010.11.006_bb0160","doi-asserted-by":"crossref","first-page":"11239","DOI":"10.1073\/pnas.0705055104","article-title":"Charcot\u2013Marie\u2013Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect","volume":"104","author":"Nangle","year":"2007","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.mcn.2010.11.006_bb0165","doi-asserted-by":"crossref","first-page":"11178","DOI":"10.1074\/jbc.M109.092973","article-title":"Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids","volume":"285","author":"Penno","year":"2010","journal-title":"The Journal of Biological Chemistry"},{"key":"10.1016\/j.mcn.2010.11.006_bb0170","doi-asserted-by":"crossref","first-page":"4861","DOI":"10.1523\/JNEUROSCI.0525-08.2008","article-title":"Nmnat delays axonal degeneration caused by mitochondrial and oxidative stress","volume":"28","author":"Press","year":"2008","journal-title":"The Journal of Neuroscience"},{"key":"10.1016\/j.mcn.2010.11.006_bb0175","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1097\/00001756-199109000-00002","article-title":"Embryonic mouse spinal cord motor neuron hybrid cells","volume":"2","author":"Salazar-Grueso","year":"1991","journal-title":"NeuroReport"},{"key":"10.1016\/j.mcn.2010.11.006_bb0180","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/ng2013","article-title":"Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation","volume":"39","author":"Scheper","year":"2007","journal-title":"Nature Genetics"},{"key":"10.1016\/j.mcn.2010.11.006_bb0185","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1110\/ps.037242.108","article-title":"Development of tRNA synthetases and connection to genetic code and disease","volume":"17","author":"Schimmel","year":"2008","journal-title":"Protein Science"},{"key":"10.1016\/j.mcn.2010.11.006_bb0190","doi-asserted-by":"crossref","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\u2013Marie\u2013Tooth 2D mouse model","volume":"51","author":"Seburn","year":"2006","journal-title":"Neuron"},{"key":"10.1016\/j.mcn.2010.11.006_bb0195","doi-asserted-by":"crossref","first-page":"3256","DOI":"10.1523\/JNEUROSCI.5537-05.2006","article-title":"Motoneurons derived from embryonic stem cells express transcription factors and develop phenotypes characteristic of medial motor column neurons","volume":"26","author":"Soundararajan","year":"2006","journal-title":"The Journal of Neuroscience"},{"key":"10.1016\/j.mcn.2010.11.006_bb0200","doi-asserted-by":"crossref","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\u2013Marie\u2013Tooth neuropathy","volume":"106","author":"Storkebaum","year":"2009","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.mcn.2010.11.006_bb0205","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1002\/dneu.20511","article-title":"RNA transport and localized protein synthesis in neurological disorders and neural repair","volume":"67","author":"Wang","year":"2007","journal-title":"Developmental Neurobiology"},{"key":"10.1016\/j.mcn.2010.11.006_bb0210","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/S0092-8674(02)00835-8","article-title":"Directed differentiation of embryonic stem cells into motor neurons","volume":"110","author":"Wichterle","year":"2002","journal-title":"Cell"},{"key":"10.1016\/j.mcn.2010.11.006_bb0215","doi-asserted-by":"crossref","first-page":"9976","DOI":"10.1073\/pnas.0703908104","article-title":"Long-range structural effects of a Charcot\u2013Marie\u2013Tooth disease-causing mutation in human glycyl-tRNA synthetase","volume":"104","author":"Xie","year":"2007","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.mcn.2010.11.006_bb0220","doi-asserted-by":"crossref","first-page":"e416","DOI":"10.1371\/journal.pbio.0040416","article-title":"Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity","volume":"4","author":"Zhai","year":"2006","journal-title":"PLoS Biology"},{"key":"10.1016\/j.mcn.2010.11.006_bb0225","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1038\/nature06721","article-title":"NAD synthase NMNAT acts as a chaperone to protect against neurodegeneration","volume":"452","author":"Zhai","year":"2008","journal-title":"Nature"}],"container-title":["Molecular and Cellular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1044743110002575?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1044743110002575?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,6,14]],"date-time":"2020-06-14T01:49:52Z","timestamp":1592099392000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1044743110002575"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2]]},"references-count":45,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["S1044743110002575"],"URL":"https:\/\/doi.org\/10.1016\/j.mcn.2010.11.006","relation":{},"ISSN":["1044-7431"],"issn-type":[{"value":"1044-7431","type":"print"}],"subject":[],"published":{"date-parts":[[2011,2]]}}}