{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:15:08Z","timestamp":1790615708544,"version":"4.1.0"},"reference-count":92,"publisher":"Oxford University Press (OUP)","issue":"22","license":[{"start":{"date-parts":[[2018,11,6]],"date-time":"2018-11-06T00:00:00Z","timestamp":1541462400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01GM043375"],"award-info":[{"award-number":["R01GM043375"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R35GM122524"],"award-info":[{"award-number":["R35GM122524"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,12,14]]},"DOI":"10.1093\/nar\/gky1093","type":"journal-article","created":{"date-parts":[[2018,10,19]],"date-time":"2018-10-19T19:19:00Z","timestamp":1539976740000},"page":"11939-11951","source":"Crossref","is-referenced-by-count":50,"title":["The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complex"],"prefix":"10.1093","volume":"46","author":[{"given":"Binkai","family":"Chi","sequence":"first","affiliation":[{"name":"Department of Cell Biology, Harvard Medical School, 240 Longwood Ave. Boston MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy D","family":"O\u2019Connell","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Harvard Medical School, 240 Longwood Ave. Boston MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander D","family":"Iocolano","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Harvard Medical School, 240 Longwood Ave. Boston MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan A","family":"Coady","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Harvard Medical School, 240 Longwood Ave. Boston MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Harvard Medical School, 240 Longwood Ave. Boston MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaya","family":"Gangopadhyay","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Harvard Medical School, 240 Longwood Ave. Boston MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven P","family":"Gygi","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Harvard Medical School, 240 Longwood Ave. Boston MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Reed","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Harvard Medical School, 240 Longwood Ave. Boston MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,11,6]]},"reference":[{"key":"key\n\t\t\t\t2018121801542789900_B1","doi-asserted-by":"crossref","first-page":"2548","DOI":"10.1172\/JCI82693","article-title":"Emerging mechanisms of molecular pathology in ALS","volume":"125","author":"Peters","year":"2015","journal-title":"J. Clin. Invest."},{"key":"key\n\t\t\t\t2018121801542789900_B2","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1111\/jnc.13642","article-title":"Nuclear transport dysfunction: a common theme in amyotrophic lateral sclerosis and frontotemporal dementia","volume":"138","author":"Jovicic","year":"2016","journal-title":"J. Neurochem."},{"key":"key\n\t\t\t\t2018121801542789900_B3","doi-asserted-by":"crossref","first-page":"2931","DOI":"10.15252\/embj.201797568","article-title":"Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder","volume":"36","author":"Gao","year":"2017","journal-title":"EMBO J."},{"key":"key\n\t\t\t\t2018121801542789900_B4","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1038\/nrneurol.2015.57","article-title":"Amyotrophic lateral sclerosis: mechanisms and therapeutics in the epigenomic era","volume":"11","author":"Paez-Colasante","year":"2015","journal-title":"Nat. Rev. Neurol."},{"key":"key\n\t\t\t\t2018121801542789900_B5","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/nature20413","article-title":"Decoding ALS: from genes to mechanism","volume":"539","author":"Taylor","year":"2016","journal-title":"Nature"},{"key":"key\n\t\t\t\t2018121801542789900_B6","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1083\/jcb.201302044","article-title":"Stress granules as crucibles of ALS pathogenesis","volume":"201","author":"Li","year":"2013","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t2018121801542789900_B7","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1007\/s00439-017-1830-7","article-title":"Genetic mutations in RNA-binding proteins and their roles in ALS","volume":"136","author":"Kapeli","year":"2017","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t2018121801542789900_B8","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1101\/gad.304055.117","article-title":"RNA-binding proteins in neurodegeneration: mechanisms in aggregate","volume":"31","author":"Conlon","year":"2017","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t2018121801542789900_B9","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1126\/science.1166066","article-title":"Mutations in the FUS\/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis","volume":"323","author":"Kwiatkowski","year":"2009","journal-title":"Science"},{"key":"key\n\t\t\t\t2018121801542789900_B10","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1126\/science.1165942","article-title":"Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6","volume":"323","author":"Vance","year":"2009","journal-title":"Science"},{"key":"key\n\t\t\t\t2018121801542789900_B11","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1126\/science.1154584","article-title":"TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis","volume":"319","author":"Sreedharan","year":"2008","journal-title":"Science"},{"key":"key\n\t\t\t\t2018121801542789900_B12","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/S1474-4422(08)70071-1","article-title":"TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis","volume":"7","author":"Van\u00a0Deerlin","year":"2008","journal-title":"Lancet Neurol."},{"key":"key\n\t\t\t\t2018121801542789900_B13","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1111\/jnc.13625","article-title":"Physiological functions and pathobiology of TDP-43 and FUS\/TLS proteins","volume":"138","author":"Ratti","year":"2016","journal-title":"J. Neurochem."},{"key":"key\n\t\t\t\t2018121801542789900_B14","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1146\/annurev-biochem-060614-034325","article-title":"Biochemical properties and biological functions of FET proteins","volume":"84","author":"Schwartz","year":"2015","journal-title":"Annu. Rev. Biochem."},{"key":"key\n\t\t\t\t2018121801542789900_B15","doi-asserted-by":"crossref","first-page":"179","DOI":"10.4161\/pri.5.3.17230","article-title":"RNA-binding proteins with prion-like domains in ALS and FTLD-U","volume":"5","author":"Gitler","year":"2011","journal-title":"Prion"},{"key":"key\n\t\t\t\t2018121801542789900_B16","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/ajmg.b.31158","article-title":"Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis","volume":"156B","author":"Ticozzi","year":"2011","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"key\n\t\t\t\t2018121801542789900_B17","doi-asserted-by":"crossref","first-page":"20881","DOI":"10.1073\/pnas.1109434108","article-title":"Feature Article: From the Cover: A yeast functional screen predicts new candidate ALS disease genes","volume":"108","author":"Couthouis","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"key\n\t\t\t\t2018121801542789900_B18","doi-asserted-by":"crossref","first-page":"2899","DOI":"10.1093\/hmg\/dds116","article-title":"Evaluating the role of the FUS\/TLS-related gene EWSR1 in amyotrophic lateral sclerosis","volume":"21","author":"Couthouis","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t2018121801542789900_B19","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.brainres.2012.01.016","article-title":"The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease","volume":"1462","author":"King","year":"2012","journal-title":"Brain Res."},{"key":"key\n\t\t\t\t2018121801542789900_B20","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1007\/s13311-015-0340-3","article-title":"Linking RNA Dysfunction and Neurodegeneration in Amyotrophic Lateral Sclerosis","volume":"12","author":"Barmada","year":"2015","journal-title":"Neurotherapeutics"},{"key":"key\n\t\t\t\t2018121801542789900_B21","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1038\/nn.3688","article-title":"Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis","volume":"17","author":"Johnson","year":"2014","journal-title":"Nat. Neurosci."},{"key":"key\n\t\t\t\t2018121801542789900_B22","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/1750-1326-8-28","article-title":"Genetics of amyotrophic lateral sclerosis: an update","volume":"8","author":"Chen","year":"2013","journal-title":"Mol. Neurodegener."},{"key":"key\n\t\t\t\t2018121801542789900_B23","doi-asserted-by":"crossref","first-page":"14529","DOI":"10.1038\/s41598-017-14924-6","article-title":"ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export","volume":"7","author":"Boehringer","year":"2017","journal-title":"Sci. Rep."},{"key":"key\n\t\t\t\t2018121801542789900_B24","doi-asserted-by":"crossref","first-page":"8755","DOI":"10.1038\/s41598-018-27136-3","article-title":"Interactome analyses revealed that the U1 snRNP machinery overlaps extensively with the RNAP II machinery and contains multiple ALS\/SMA-causative proteins","volume":"8","author":"Chi","year":"2018","journal-title":"Sci. Rep."},{"key":"key\n\t\t\t\t2018121801542789900_B25","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1016\/j.molcel.2011.12.034","article-title":"Dynamic protein-protein interaction wiring of the human spliceosome","volume":"45","author":"Hegele","year":"2012","journal-title":"Mol. Cell"},{"key":"key\n\t\t\t\t2018121801542789900_B26","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/978-1-4939-1142-4_16","article-title":"Analyzing the protein assembly and dynamics of the human spliceosome with SILAC","volume":"1188","author":"Schmidt","year":"2014","journal-title":"Methods Mol. Biol."},{"key":"key\n\t\t\t\t2018121801542789900_B27","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1261\/rna.041244.113","article-title":"Mass spectrometry-based relative quantification of proteins in precatalytic and catalytically active spliceosomes by metabolic labeling (SILAC), chemical labeling (iTRAQ), and label-free spectral count","volume":"20","author":"Schmidt","year":"2014","journal-title":"RNA"},{"key":"key\n\t\t\t\t2018121801542789900_B28","doi-asserted-by":"crossref","first-page":"a003707","DOI":"10.1101\/cshperspect.a003707","article-title":"Spliceosome structure and function","volume":"3","author":"Will","year":"2011","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"key\n\t\t\t\t2018121801542789900_B29","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/j.cell.2009.02.009","article-title":"The spliceosome: design principles of a dynamic RNP machine","volume":"136","author":"Wahl","year":"2009","journal-title":"Cell"},{"key":"key\n\t\t\t\t2018121801542789900_B30","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1016\/j.molcel.2007.05.036","article-title":"SR Proteins Function in Coupling RNAP II Transcription to Pre-mRNA Splicing","volume":"26","author":"Das","year":"2007","journal-title":"Mol. Cell"},{"key":"key\n\t\t\t\t2018121801542789900_B31","doi-asserted-by":"crossref","first-page":"5203","DOI":"10.1128\/MCB.22.14.5203-5211.2002","article-title":"Novel transcription coactivator complex containing activating signal cointegrator 1","volume":"22","author":"Jung","year":"2002","journal-title":"Mol. Cell. Biol."},{"key":"key\n\t\t\t\t2018121801542789900_B32","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.ajhg.2016.01.006","article-title":"Mutations in subunits of the activating signal cointegrator 1 complex are associated with prenatal spinal muscular atrophy and congenital bone fractures","volume":"98","author":"Knierim","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t2018121801542789900_B33","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1111\/cge.12997","article-title":"The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement","volume":"92","author":"Oliveira","year":"2017","journal-title":"Clin. Genet."},{"key":"key\n\t\t\t\t2018121801542789900_B34","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/j.celrep.2012.08.025","article-title":"FUS-SMN protein interactions link the motor neuron diseases ALS and SMA","volume":"2","author":"Yamazaki","year":"2012","journal-title":"Cell Rep."},{"key":"key\n\t\t\t\t2018121801542789900_B35","doi-asserted-by":"crossref","first-page":"6171","DOI":"10.1038\/ncomms7171","article-title":"ALS-causative mutations in FUS\/TLS confer gain and loss of function by altered association with SMN and U1-snRNP","volume":"6","author":"Sun","year":"2015","journal-title":"Nat. Commun."},{"key":"key\n\t\t\t\t2018121801542789900_B36","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1002\/emmm.201202303","article-title":"Spliceosome integrity is defective in the motor neuron diseases ALS and SMA","volume":"5","author":"Tsuiji","year":"2013","journal-title":"EMBO Mol. Med."},{"key":"key\n\t\t\t\t2018121801542789900_B37","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"key\n\t\t\t\t2018121801542789900_B38","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1042\/BST20130142","article-title":"The intriguing case of motor neuron disease: ALS and SMA come closer","volume":"41","author":"Achsel","year":"2013","journal-title":"Biochem. Soc. Trans."},{"key":"key\n\t\t\t\t2018121801542789900_B39","doi-asserted-by":"crossref","first-page":"1864","DOI":"10.1101\/gad.11.14.1864","article-title":"U2AF65 recruits a novel human DEAD box protein required for the U2 snRNP-branchpoint interaction","volume":"11","author":"Fleckner","year":"1997","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t2018121801542789900_B40","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1016\/j.cell.2006.10.044","article-title":"Human mRNA export machinery recruited to the 5\u2032 end of mRNA","volume":"127","author":"Cheng","year":"2006","journal-title":"Cell"},{"key":"key\n\t\t\t\t2018121801542789900_B41","volume-title":"Antibodies: A Laboratory Manual","author":"Harlow","year":"1988"},{"key":"key\n\t\t\t\t2018121801542789900_B42","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1093\/nar\/11.5.1475","article-title":"Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei","volume":"11","author":"Dignam","year":"1983","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t2018121801542789900_B43","doi-asserted-by":"crossref","first-page":"7469","DOI":"10.1021\/ac301572t","article-title":"Increasing the multiplexing capacity of TMTs using reporter ion isotopologues with isobaric masses","volume":"84","author":"McAlister","year":"2012","journal-title":"Anal. Chem."},{"key":"key\n\t\t\t\t2018121801542789900_B44","doi-asserted-by":"crossref","first-page":"1.30.1","DOI":"10.1002\/cpbi.5","article-title":"The GeneCards Suite: From gene data mining to disease genome sequence analyses","volume":"54","author":"Stelzer","year":"2016","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"key\n\t\t\t\t2018121801542789900_B45","doi-asserted-by":"crossref","first-page":"D447","DOI":"10.1093\/nar\/gku1003","article-title":"STRING v10: protein-protein interaction networks, integrated over the tree of life","volume":"43","author":"Szklarczyk","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t2018121801542789900_B46","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.molcel.2006.06.014","article-title":"Controlling the elongation phase of transcription with P-TEFb","volume":"23","author":"Peterlin","year":"2006","journal-title":"Mol. Cell"},{"key":"key\n\t\t\t\t2018121801542789900_B47","doi-asserted-by":"crossref","first-page":"243","DOI":"10.3389\/fnmol.2017.00243","article-title":"Chromatin remodeling BAF (SWI\/SNF) Complexes in neural development and disorders","volume":"10","author":"Sokpor","year":"2017","journal-title":"Front. Mol. Neurosci."},{"key":"key\n\t\t\t\t2018121801542789900_B48","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1128\/MCB.23.6.1863-1873.2003","article-title":"Human transcription elongation factor NELF: identification of novel subunits and reconstitution of the functionally active complex","volume":"23","author":"Narita","year":"2003","journal-title":"Mol. Cell. Biol."},{"key":"key\n\t\t\t\t2018121801542789900_B49","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1093\/hmg\/ddw033","article-title":"The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease","volume":"25","author":"Davignon","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t2018121801542789900_B50","doi-asserted-by":"crossref","first-page":"156","DOI":"10.4161\/trns.20725","article-title":"Rethinking the role of TFIIF in transcript initiation by RNA polymerase II","volume":"3","author":"Luse","year":"2012","journal-title":"Transcription"},{"key":"key\n\t\t\t\t2018121801542789900_B51","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1038\/nature16469","article-title":"SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination","volume":"529","author":"Zhao","year":"2016","journal-title":"Nature"},{"key":"key\n\t\t\t\t2018121801542789900_B52","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/nature10925","article-title":"DBIRD complex integrates alternative mRNA splicing with RNA polymerase II transcript elongation","volume":"484","author":"Close","year":"2012","journal-title":"Nature"},{"key":"key\n\t\t\t\t2018121801542789900_B53","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1126\/science.1197847","article-title":"HSPC117 is the essential subunit of a human tRNA splicing ligase complex","volume":"331","author":"Popow","year":"2011","journal-title":"Science"},{"key":"key\n\t\t\t\t2018121801542789900_B54","doi-asserted-by":"crossref","first-page":"30253","DOI":"10.1074\/jbc.C111.274597","article-title":"RtcB, a novel RNA ligase, can catalyze tRNA splicing and HAC1 mRNA splicing in vivo","volume":"286","author":"Tanaka","year":"2011","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t2018121801542789900_B55","doi-asserted-by":"crossref","first-page":"e90957","DOI":"10.1371\/journal.pone.0090957","article-title":"hCLE\/C14orf166 associates with DDX1-HSPC117-FAM98B in a novel transcription-dependent shuttling RNA-transporting complex","volume":"9","author":"Perez-Gonzalez","year":"2014","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t2018121801542789900_B56","first-page":"101","article-title":"Structure and function of small ribonucleoproteins from eukaryotic cells","volume":"12","author":"Steitz","year":"1982","journal-title":"Int. Symp. Princess Takamatsu Cancer Res. Fund"},{"key":"key\n\t\t\t\t2018121801542789900_B57","doi-asserted-by":"crossref","first-page":"4287","DOI":"10.1038\/ncomms5287","article-title":"EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia","volume":"5","author":"Boczonadi","year":"2014","journal-title":"Nat. Commun."},{"key":"key\n\t\t\t\t2018121801542789900_B58","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":"Evgrafov","year":"2004","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t2018121801542789900_B59","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1093\/hmg\/ddi452","article-title":"A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes","volume":"15","author":"Ackerley","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t2018121801542789900_B60","doi-asserted-by":"crossref","first-page":"e00774","DOI":"10.1002\/brb3.774","article-title":"A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family","volume":"7","author":"Amornvit","year":"2017","journal-title":"Brain Behav"},{"key":"key\n\t\t\t\t2018121801542789900_B61","doi-asserted-by":"crossref","first-page":"1620","DOI":"10.1007\/s13361-016-1434-9","article-title":"A Triple Knockout (TKO) proteomics standard for diagnosing ion interference in isobaric labeling experiments","volume":"27","author":"Paulo","year":"2016","journal-title":"J. Am. Soc. Mass Spectrom."},{"key":"key\n\t\t\t\t2018121801542789900_B62","doi-asserted-by":"crossref","first-page":"8608","DOI":"10.1073\/pnas.1506282112","article-title":"FUS functions in coupling transcription to splicing by mediating an interaction between RNAP II and U1 snRNP","volume":"112","author":"Yu","year":"2015","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"key\n\t\t\t\t2018121801542789900_B63","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1038\/nsmb.3473","article-title":"U1 snRNP telescripting regulates a size-function-stratified human genome","volume":"24","author":"Oh","year":"2017","journal-title":"Nat. Struct. Mol. Biol."},{"key":"key\n\t\t\t\t2018121801542789900_B64","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1080\/21678421.2018.1440406","article-title":"Phenotypic and genotypic studies of ALS cases in ALS-SMA families","volume":"19","author":"Corcia","year":"2018","journal-title":"Amyotroph. Lateral Scler. Frontotemporal. Degener."},{"key":"key\n\t\t\t\t2018121801542789900_B65","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.4161\/auto.26059","article-title":"Cleavage of sequestosome 1\/p62 by an enteroviral protease results in disrupted selective autophagy and impaired NFKB signaling","volume":"9","author":"Shi","year":"2013","journal-title":"Autophagy"},{"key":"key\n\t\t\t\t2018121801542789900_B66","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1016\/j.neuron.2014.01.013","article-title":"Microglia induce motor neuron death via the classical NF-kappaB pathway in amyotrophic lateral sclerosis","volume":"81","author":"Frakes","year":"2014","journal-title":"Neuron"},{"key":"key\n\t\t\t\t2018121801542789900_B67","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.expneurol.2015.07.019","article-title":"TDP-43 activates microglia through NF-kappaB and NLRP3 inflammasome","volume":"273","author":"Zhao","year":"2015","journal-title":"Exp. Neurol."},{"key":"key\n\t\t\t\t2018121801542789900_B68","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1016\/j.stemcr.2017.02.019","article-title":"Genetic correction of SOD1 mutant iPSCs reveals ERK and JNK activated AP1 as a driver of neurodegeneration in amyotrophic lateral sclerosis","volume":"8","author":"Bhinge","year":"2017","journal-title":"Stem Cell Rep."},{"key":"key\n\t\t\t\t2018121801542789900_B69","doi-asserted-by":"crossref","first-page":"2270","DOI":"10.1073\/pnas.0308133100","article-title":"Differential recruitment of nuclear receptor coactivators may determine alternative RNA splice site choice in target genes","volume":"101","author":"Auboeuf","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"key\n\t\t\t\t2018121801542789900_B70","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1007\/s13311-014-0314-x","article-title":"The genetics of spinal muscular atrophy: Progress and challenges","volume":"12","author":"Farrar","year":"2015","journal-title":"Neurotherapeutics"},{"key":"key\n\t\t\t\t2018121801542789900_B71","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.brainres.2014.10.009","article-title":"Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges","volume":"1607","author":"Marangi","year":"2015","journal-title":"Brain Res."},{"key":"key\n\t\t\t\t2018121801542789900_B72","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1038\/nn.3514","article-title":"Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons","volume":"16","author":"Wang","year":"2013","journal-title":"Nat. Neurosci."},{"key":"key\n\t\t\t\t2018121801542789900_B73","doi-asserted-by":"crossref","first-page":"E7701","DOI":"10.1073\/pnas.1611673113","article-title":"Two familial ALS proteins function in prevention\/repair of transcription-associated DNA damage","volume":"113","author":"Hill","year":"2016","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"key\n\t\t\t\t2018121801542789900_B74","doi-asserted-by":"crossref","first-page":"9047","DOI":"10.1093\/nar\/gku601","article-title":"DNA damage triggers SAF-A and RNA biogenesis factors exclusion from chromatin coupled to R-loops removal","volume":"42","author":"Britton","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t2018121801542789900_B75","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.molcel.2011.05.035","article-title":"The Ewing sarcoma protein regulates DNA damage-induced alternative splicing","volume":"43","author":"Paronetto","year":"2011","journal-title":"Mol. Cell"},{"key":"key\n\t\t\t\t2018121801542789900_B76","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.4161\/cc.9.8.11298","article-title":"Involvement of Matrin 3 and SFPQ\/NONO in the DNA damage response","volume":"9","author":"Salton","year":"2010","journal-title":"Cell Cycle"},{"key":"key\n\t\t\t\t2018121801542789900_B77","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.molcel.2016.08.037","article-title":"VCP\/p97 Extracts sterically trapped Ku70\/80 rings from DNA in Double-Strand break repair","volume":"64","author":"van\u00a0den\u00a0Boom","year":"2016","journal-title":"Mol. Cell"},{"key":"key\n\t\t\t\t2018121801542789900_B78","doi-asserted-by":"crossref","first-page":"2206","DOI":"10.1038\/s41598-018-20360-x","article-title":"hnRNP A1\/A2 and Sam68 collaborate with SRSF10 to control the alternative splicing response to oxaliplatin-mediated DNA damage","volume":"8","author":"Cloutier","year":"2018","journal-title":"Sci. Rep."},{"key":"key\n\t\t\t\t2018121801542789900_B79","doi-asserted-by":"crossref","first-page":"e0164285","DOI":"10.1371\/journal.pone.0164285","article-title":"HSPB1 Enhances SIRT2-Mediated G6PD activation and promotes glioma cell proliferation","volume":"11","author":"Ye","year":"2016","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t2018121801542789900_B80","doi-asserted-by":"crossref","first-page":"13213","DOI":"10.1073\/pnas.0706316104","article-title":"RNA polymerase: the most specific damage recognition protein in cellular responses to DNA damage","volume":"104","author":"Lindsey-Boltz","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"key\n\t\t\t\t2018121801542789900_B81","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1038\/nrm2549","article-title":"Transcription-coupled DNA repair: two decades of progress and surprises","volume":"9","author":"Hanawalt","year":"2008","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"key\n\t\t\t\t2018121801542789900_B82","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1016\/j.molcel.2016.02.001","article-title":"RNA Processing and genome stability: Cause and consequence","volume":"61","author":"Wickramasinghe","year":"2016","journal-title":"Mol. Cell"},{"key":"key\n\t\t\t\t2018121801542789900_B83","doi-asserted-by":"crossref","first-page":"6413","DOI":"10.1128\/MCB.01053-08","article-title":"A role for DEAD box 1 at DNA double-strand breaks","volume":"28","author":"Li","year":"2008","journal-title":"Mol. Cell. Biol."},{"key":"key\n\t\t\t\t2018121801542789900_B84","doi-asserted-by":"crossref","first-page":"20354","DOI":"10.1073\/pnas.1320033110","article-title":"Cross-over of RNA 3\u2032-phosphate ligase into the DNA world","volume":"110","author":"Huang","year":"2013","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"key\n\t\t\t\t2018121801542789900_B85","doi-asserted-by":"crossref","first-page":"745","DOI":"10.15252\/embr.201643191","article-title":"NELF-E is recruited to DNA double-strand break sites to promote transcriptional repression and repair","volume":"18","author":"Awwad","year":"2017","journal-title":"EMBO Rep."},{"key":"key\n\t\t\t\t2018121801542789900_B86","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.mrfmmm.2013.07.005","article-title":"Sequence-specific double strand breaks trigger P-TEFb-dependent Rpb1-CTD hyperphosphorylation","volume":"749","author":"Napolitano","year":"2013","journal-title":"Mutat Res."},{"key":"key\n\t\t\t\t2018121801542789900_B87","doi-asserted-by":"crossref","first-page":"5481","DOI":"10.1038\/sj.emboj.7601403","article-title":"RNA polymerase II bypass of oxidative DNA damage is regulated by transcription elongation factors","volume":"25","author":"Charlet-Berguerand","year":"2006","journal-title":"EMBO J"},{"key":"key\n\t\t\t\t2018121801542789900_B88","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1007\/s10495-010-0501-0","article-title":"DNA damage, neuronal and glial cell death and neurodegeneration","volume":"15","author":"Barzilai","year":"2010","journal-title":"Apoptosis"},{"key":"key\n\t\t\t\t2018121801542789900_B89","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1016\/j.dnarep.2008.03.005","article-title":"The role of the DNA damage response in neuronal development, organization and maintenance","volume":"7","author":"Barzilai","year":"2008","journal-title":"DNA Repair (Amst.)"},{"key":"key\n\t\t\t\t2018121801542789900_B90","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.cell.2005.01.028","article-title":"DNA repair, genome stability, and aging","volume":"120","author":"Lombard","year":"2005","journal-title":"Cell"},{"key":"key\n\t\t\t\t2018121801542789900_B91","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.mrfmmm.2005.03.006","article-title":"To die or not to die: DNA repair in neurons","volume":"577","author":"McMurray","year":"2005","journal-title":"Mutat. Res."},{"key":"key\n\t\t\t\t2018121801542789900_B92","doi-asserted-by":"crossref","first-page":"12143","DOI":"10.1038\/ncomms12143","article-title":"Distinct and shared functions of ALS-associated proteins TDP-43, FUS and TAF15 revealed by multisystem analyses","volume":"7","author":"Kapeli","year":"2016","journal-title":"Nat. Commun."}],"container-title":["Nucleic Acids Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/nar\/article-pdf\/46\/22\/11939\/27179494\/gky1093.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,13]],"date-time":"2020-11-13T16:00:47Z","timestamp":1605283247000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/nar\/article\/46\/22\/11939\/5162471"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,6]]},"references-count":92,"journal-issue":{"issue":"22","published-online":{"date-parts":[[2018,11,6]]},"published-print":{"date-parts":[[2018,12,14]]}},"URL":"https:\/\/doi.org\/10.1093\/nar\/gky1093","relation":{},"ISSN":["0305-1048","1362-4962"],"issn-type":[{"value":"0305-1048","type":"print"},{"value":"1362-4962","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,12,14]]},"published":{"date-parts":[[2018,11,6]]}}}