{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:11:15Z","timestamp":1792033875054,"version":"4.4.0"},"reference-count":43,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2011,12,1]],"date-time":"2011-12-01T00:00:00Z","timestamp":1322697600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/publicdomain\/zero\/1.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1002399","type":"journal-article","created":{"date-parts":[[2011,12,3]],"date-time":"2011-12-03T04:50:10Z","timestamp":1322887810000},"page":"e1002399","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":118,"title":["Charcot-Marie-Tooth\u2013Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels"],"prefix":"10.1371","volume":"7","author":[{"given":"William W.","family":"Motley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin L.","family":"Seburn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mir Hussain","family":"Nawaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy E.","family":"Miers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Antonellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric D.","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Talbot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang-Lei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth H.","family":"Fischbeck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W.","family":"Burgess","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2011,12,1]]},"reference":[{"key":"ref1","article-title":"Genetic and clinical aspects of Charcot-Marie-Tooth&apos;s disease.","author":"H Skre","year":"1974","journal-title":"Clinical Genetics"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1055\/s-2008-1062264","article-title":"Charcot-Marie-Tooth neuropathies: diagnosis and management.","volume":"28","author":"A Jani-Acsadi","year":"2008","journal-title":"Semin Neurol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1385\/NMM:8:1-2:123","article-title":"Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.","volume":"8","author":"G Nicholson","year":"2006","journal-title":"Neuromolecular Med"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng0692-171","article-title":"The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.","volume":"1","author":"V Timmerman","year":"1992","journal-title":"Nat Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/ng0993-31","article-title":"Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.","volume":"5","author":"K Hayasaka","year":"1993","journal-title":"Nat Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1126\/science.8266101","article-title":"Connexin mutations in X-linked Charcot-Marie-Tooth disease.","volume":"262","author":"J Bergoffen","year":"1993","journal-title":"Science"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1086\/367847","article-title":"Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.","volume":"72","author":"K Verhoeven","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/S0092-8674(01)00363-4","article-title":"Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.","volume":"105","author":"C Zhao","year":"2001","journal-title":"Cell"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng1341","article-title":"Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.","volume":"36","author":"S Zuchner","year":"2004","journal-title":"Nat Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/ng796","article-title":"Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A\/8q21.","volume":"30","author":"RV Baxter","year":"2002","journal-title":"Nat Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1038\/ng798","article-title":"The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.","volume":"30","author":"A Cuesta","year":"2002","journal-title":"Nat Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/ng1354","article-title":"Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.","volume":"36","author":"OV Evgrafov","year":"2004","journal-title":"Nat Genet"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1093\/brain\/awg059","article-title":"Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.","volume":"126","author":"A Jordanova","year":"2003","journal-title":"Brain"},{"key":"ref14","doi-asserted-by":"crossref","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":"A Antonellis","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref15","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-Marie-Tooth neuropathy.","volume":"38","author":"A Jordanova","year":"2006","journal-title":"Nat Genet"},{"key":"ref16","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-Marie-Tooth disease.","volume":"86","author":"P Latour","year":"2010","journal-title":"Am J Hum Genet"},{"key":"ref17","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":"HM McLaughlin","year":"2010","journal-title":"Am J Hum Genet"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.tins.2009.11.001","article-title":"GARS axonopathy: not every neuron&apos;s cup of tRNA.","volume":"33","author":"WW Motley","year":"2010","journal-title":"Trends Neurosci"},{"key":"ref19","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":"A Antonellis","year":"2006","journal-title":"J Neurosci"},{"key":"ref20","doi-asserted-by":"crossref","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":"L Nangle","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref21","doi-asserted-by":"crossref","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":"MG Stum","year":"2010","journal-title":"Mol Cell Neurosci"},{"key":"ref22","doi-asserted-by":"crossref","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":"W Xie","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1107\/S1744309106046434","article-title":"Crystallization and preliminary X-ray analysis of a native human tRNA synthetase whose allelic variants are associated with Charcot-Marie-Tooth disease.","volume":"62","author":"W Xie","year":"2006","journal-title":"Acta Crystallogr Sect F Struct Biol Cryst Commun"},{"key":"ref24","doi-asserted-by":"crossref","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":"MZ Cader","year":"2007","journal-title":"FEBS Lett"},{"key":"ref25","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-Marie-Tooth 2D mouse model.","volume":"51","author":"KL Seburn","year":"2006","journal-title":"Neuron"},{"key":"ref26","doi-asserted-by":"crossref","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":"F Achilli","year":"2009","journal-title":"Dis Model Mech"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/0378-1119(91)90434-D","article-title":"Efficient selection for high-expression transfectants with a novel eukaryotic vector.","volume":"108","author":"H Niwa","year":"1991","journal-title":"Gene"},{"key":"ref28","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":"T Chihara","year":"2007","journal-title":"Nat Neurosci"},{"key":"ref29","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-Marie-Tooth neuropathy.","volume":"106","author":"E Storkebaum","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/S0092-8674(00)81253-2","article-title":"Defective neuromuscular synaptogenesis in agrin-deficient mutant mice.","volume":"85","author":"M Gautam","year":"1996","journal-title":"Cell"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1126\/science.287.5454.864","article-title":"Synaptic assembly of the brain in the absence of neurotransmitter secretion.","volume":"287","author":"M Verhage","year":"2000","journal-title":"Science"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/S0896-6273(02)01020-6","article-title":"Roles of neurotransmitter in synapse formation: development of neuromuscular junctions lacking choline acetyltransferase.","volume":"36","author":"T Misgeld","year":"2002","journal-title":"Neuron"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/85879","article-title":"Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.","volume":"27","author":"JL Dawkins","year":"2001","journal-title":"Nat Genet"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1038\/85817","article-title":"SPTLC1 is mutated in hereditary sensory neuropathy, type 1.","volume":"27","author":"K Bejaoui","year":"2001","journal-title":"Nat Genet"},{"key":"ref35","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":"A Penno","year":"2010","journal-title":"J Biol Chem"},{"key":"ref36","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":"FS Eichler","year":"2009","journal-title":"J Neurosci"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1126\/science.281.5384.1851","article-title":"Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1.","volume":"281","author":"LI Bruijn","year":"1998","journal-title":"Science"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"2826","DOI":"10.1182\/blood-2010-03-275776","article-title":"A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.","volume":"116","author":"EE Devlin","year":"2010","journal-title":"Blood"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1006\/bbrc.2000.3013","article-title":"Chicken beta-globin 5\u2032HS4 insulators function to reduce variability in transgenic founder mice.","volume":"273","author":"W Potts","year":"2000","journal-title":"Biochem Biophys Res Commun"},{"key":"ref40","first-page":"viii","article-title":"Manipulating the mouse embryo : a laboratory manual","author":"A Nagy","year":"2003"},{"key":"ref41","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":"EJ Arroyo","year":"2004","journal-title":"J Comp Neurol"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.ab.2007.05.013","article-title":"A universal plate format for increased throughput of assays that monitor multiple aminoacyl transfer RNA synthetase activities.","volume":"368","author":"K Beebe","year":"2007","journal-title":"Anal Biochem"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1007\/978-1-60761-058-8_20","article-title":"Neuromuscular disease models and analysis.","volume":"602","author":"RW Burgess","year":"2009","journal-title":"Methods Mol Biol"}],"container-title":["PLoS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1002399","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,9]],"date-time":"2020-05-09T05:47:02Z","timestamp":1589003222000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1002399"}},"subtitle":[],"editor":[{"given":"Gregory S.","family":"Barsh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2011,12,1]]},"references-count":43,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2011,12,1]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1002399","relation":{},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,12,1]]}}}