{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T13:20:38Z","timestamp":1791724838028,"version":"4.3.4"},"reference-count":204,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2014,5,20]],"date-time":"2014-05-20T00:00:00Z","timestamp":1400544000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Rev Neurol"],"published-print":{"date-parts":[[2014,6]]},"DOI":"10.1038\/nrneurol.2014.78","type":"journal-article","created":{"date-parts":[[2014,5,20]],"date-time":"2014-05-20T07:54:20Z","timestamp":1400572460000},"page":"337-348","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":369,"title":["The role of FUS gene variants in neurodegenerative diseases"],"prefix":"10.1038","volume":"10","author":[{"given":"Hao","family":"Deng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Jankovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,5,20]]},"reference":[{"key":"BFnrneurol201478_CR1","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/nrn1007","volume":"4","author":"C Soto","year":"2003","unstructured":"Soto, C. Unfolding the role of protein misfolding in neurodegenerative diseases. Nat. Rev. Neurosci. 4, 49\u201360 (2003).","journal-title":"Nat. Rev. Neurosci."},{"key":"BFnrneurol201478_CR2","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1146\/annurev-neuro-060909-153144","volume":"33","author":"K Sleegers","year":"2010","unstructured":"Sleegers, K., Cruts, M. & Van Broeckhoven, C. Molecular pathways of frontotemporal lobar degeneration. Annu. Rev. Neurosci. 33, 71\u201388 (2010).","journal-title":"Annu. Rev. Neurosci."},{"key":"BFnrneurol201478_CR3","doi-asserted-by":"crossref","first-page":"2922","DOI":"10.1093\/brain\/awp214","volume":"132","author":"M Neumann","year":"2009","unstructured":"Neumann, M. et al. A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain 132, 2922\u20132931 (2009).","journal-title":"Brain"},{"key":"BFnrneurol201478_CR4","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1002\/ana.22051","volume":"67","author":"HX Deng","year":"2010","unstructured":"Deng, H. X. et al. FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis. Ann. Neurol. 67, 739\u2013748 (2010).","journal-title":"Ann. Neurol."},{"key":"BFnrneurol201478_CR5","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1007\/s00401-009-0581-5","volume":"118","author":"M Neumann","year":"2009","unstructured":"Neumann, M. et al. Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease. Acta Neuropathol. 118, 605\u2013616 (2009).","journal-title":"Acta Neuropathol."},{"key":"BFnrneurol201478_CR6","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.neures.2009.10.004","volume":"66","author":"H Doi","year":"2010","unstructured":"Doi, H., Koyano, S., Suzuki, Y., Nukina, N. & Kuroiwa, Y. The RNA-binding protein FUS\/TLS is a common aggregate-interacting protein in polyglutamine diseases. Neurosci. Res. 66, 131\u2013133 (2010).","journal-title":"Neurosci. Res."},{"key":"BFnrneurol201478_CR7","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1111\/j.1750-3639.2009.00337.x","volume":"20","author":"J Woulfe","year":"2010","unstructured":"Woulfe, J., Gray, D. A. & Mackenzie, I. R. FUS-immunoreactive intranuclear inclusions in neurodegenerative disease. Brain Pathol. 20, 589\u2013597 (2010).","journal-title":"Brain Pathol."},{"key":"BFnrneurol201478_CR8","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1038\/363640a0","volume":"363","author":"A Crozat","year":"1993","unstructured":"Crozat, A., Aman, P., Mandahl, N. & Ron, D. Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma. Nature 363, 640\u2013644 (1993).","journal-title":"Nature"},{"key":"BFnrneurol201478_CR9","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/ng0693-175","volume":"4","author":"TH Rabbitts","year":"1993","unstructured":"Rabbitts, T. H., Forster, A., Larson, R. & Nathan, P. Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma. Nat. Genet. 4, 175\u2013180 (1993).","journal-title":"Nat. Genet."},{"key":"BFnrneurol201478_CR10","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1093\/jmcb\/mjp025","volume":"1","author":"AY Tan","year":"2009","unstructured":"Tan, A. Y. & Manley, J. L. The TET family of proteins: functions and roles in disease. J. Mol. Cell Biol. 1, 82\u201392 (2009).","journal-title":"J. Mol. Cell Biol."},{"key":"BFnrneurol201478_CR11","doi-asserted-by":"crossref","first-page":"R46","DOI":"10.1093\/hmg\/ddq137","volume":"19","author":"C Lagier-Tourenne","year":"2010","unstructured":"Lagier-Tourenne, C., Polymenidou, M. & Cleveland, D. W. TDP-43 and FUS\/TLS: emerging roles in RNA processing and neurodegeneration. Hum. Mol. Genet. 19, R46\u2013R64 (2010).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR12","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1126\/science.1166066","volume":"323","author":"TJ Kwiatkowski Jr","year":"2009","unstructured":"Kwiatkowski, T. J. Jr et al. Mutations in the FUS\/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323, 1205\u20131208 (2009).","journal-title":"Science"},{"key":"BFnrneurol201478_CR13","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1126\/science.1165942","volume":"323","author":"C Vance","year":"2009","unstructured":"Vance, C. et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323, 1208\u20131211 (2009).","journal-title":"Science"},{"key":"BFnrneurol201478_CR14","doi-asserted-by":"crossref","first-page":"765","DOI":"10.3233\/JAD-2010-100837","volume":"22","author":"O Broustal","year":"2010","unstructured":"Broustal, O. et al. FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis. J. Alzheimers Dis. 22, 765\u2013769 (2010).","journal-title":"J. Alzheimers Dis."},{"key":"BFnrneurol201478_CR15","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1212\/WNL.0b013e3181ccc732","volume":"74","author":"T Van Langenhove","year":"2010","unstructured":"Van Langenhove, T. et al. Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology 74, 366\u2013371 (2010).","journal-title":"Neurology"},{"key":"BFnrneurol201478_CR16","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.ajhg.2012.07.002","volume":"91","author":"ND Merner","year":"2012","unstructured":"Merner, N. D. et al. Exome sequencing identifies FUS mutations as a cause of essential tremor. Am. J. Hum. Genet. 91, 313\u2013319 (2012).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrneurol201478_CR17","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1242\/jcs.110.15.1741","volume":"110","author":"H Zinszner","year":"1997","unstructured":"Zinszner, H., Sok, J., Immanuel, D., Yin, Y. & Ron, D. TLS (FUS) binds RNA in vivo and engages in nucleo-cytoplasmic shuttling. J. Cell Sci. 110, 1741\u20131750 (1997).","journal-title":"J. Cell Sci."},{"key":"BFnrneurol201478_CR18","doi-asserted-by":"crossref","first-page":"44834","DOI":"10.1074\/jbc.M408552200","volume":"279","author":"Y Iko","year":"2004","unstructured":"Iko, Y. et al. Domain architectures and characterization of an RNA-binding protein, TLS. J. Biol. Chem. 279, 44834\u201344840 (2004).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol201478_CR19","doi-asserted-by":"crossref","first-page":"2841","DOI":"10.1038\/emboj.2010.143","volume":"29","author":"D Dormann","year":"2010","unstructured":"Dormann, D. et al. ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. EMBO J. 29, 2841\u20132857 (2010).","journal-title":"EMBO J."},{"key":"BFnrneurol201478_CR20","doi-asserted-by":"crossref","first-page":"4258","DOI":"10.1038\/emboj.2012.261","volume":"31","author":"D Dormann","year":"2012","unstructured":"Dormann, D. et al. Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS. EMBO J. 31, 4258\u20134275 (2012).","journal-title":"EMBO J."},{"key":"BFnrneurol201478_CR21","doi-asserted-by":"crossref","first-page":"34337","DOI":"10.1074\/jbc.274.48.34337","volume":"274","author":"H Baechtold","year":"1999","unstructured":"Baechtold, H. et al. Human 75-kDa DNA-pairing protein is identical to the pro-oncoprotein TLS\/FUS and is able to promote D-loop formation. J. Biol. Chem. 274, 34337\u201334342 (1999).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol201478_CR22","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/72842","volume":"24","author":"GG Hicks","year":"2000","unstructured":"Hicks, G. G. et al. Fus deficiency in mice results in defective B-lymphocyte development and activation, high levels of chromosomal instability and perinatal death. Nat. Genet. 24, 175\u2013179 (2000).","journal-title":"Nat. Genet."},{"key":"BFnrneurol201478_CR23","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1093\/emboj\/19.3.453","volume":"19","author":"M Kuroda","year":"2000","unstructured":"Kuroda, M. et al. Male sterility and enhanced radiation sensitivity in TLS\u2212\/\u2212 mice. EMBO J. 19, 453\u2013462 (2000).","journal-title":"EMBO J."},{"key":"BFnrneurol201478_CR24","doi-asserted-by":"crossref","first-page":"24731","DOI":"10.1074\/jbc.M113.497974","volume":"288","author":"AS Mastrocola","year":"2013","unstructured":"Mastrocola, A. S., Kim, S. H., Trinh, A. T., Rodenkirch, L. A. & Tibbetts, R. S. The RNA binding protein fused in sarcoma (FUS) functions downstream of PARP in response to DNA damage. J. Biol. Chem. 288, 24731\u201324741 (2013).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol201478_CR25","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1038\/nn.3514","volume":"16","author":"WY Wang","year":"2013","unstructured":"Wang, W. Y. et al. Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons. Nat. Neurosci. 16, 1383\u20131391 (2013).","journal-title":"Nat. Neurosci."},{"key":"BFnrneurol201478_CR26","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1093\/nar\/gkt835","volume":"42","author":"SL Rulten","year":"2014","unstructured":"Rulten, S. L. et al. PARP-1 dependent recruitment of the amyotrophic lateral sclerosis-associated protein FUS\/TLS to sites of oxidative DNA damage. Nucleic Acids Res. 42, 307\u2013314 (2014).","journal-title":"Nucleic Acids Res."},{"key":"BFnrneurol201478_CR27","doi-asserted-by":"crossref","first-page":"5022","DOI":"10.1002\/j.1460-2075.1996.tb00882.x","volume":"15","author":"A Bertolotti","year":"1996","unstructured":"Bertolotti, A., Lutz, Y., Heard, D. J., Chambon, P. & Tora, L. hTAF(II)68, a novel RNA\/ssDNA-binding protein with homology to the pro-oncoproteins TLS\/FUS and EWS is associated with both TFIID and RNA polymerase II. EMBO J. 15, 5022\u20135031 (1996).","journal-title":"EMBO J."},{"key":"BFnrneurol201478_CR28","doi-asserted-by":"crossref","first-page":"4838","DOI":"10.1074\/jbc.273.9.4838","volume":"273","author":"M Hallier","year":"1998","unstructured":"Hallier, M., Lerga, A., Barnache, S., Tavitian, A. & Moreau-Gachelin, F. The transcription factor Spi-1\/PU.1 interacts with the potential splicing factor TLS. J. Biol. Chem. 273, 4838\u20134842 (1998).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol201478_CR29","doi-asserted-by":"crossref","first-page":"13395","DOI":"10.1074\/jbc.M011176200","volume":"276","author":"H Uranishi","year":"2001","unstructured":"Uranishi, H. et al. Involvement of the pro-oncoprotein TLS (translocated in liposarcoma) in nuclear factor-\u03baB p65-mediated transcription as a coactivator. J. Biol. Chem. 276, 13395\u201313401 (2001).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol201478_CR30","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/nature06992","volume":"454","author":"X Wang","year":"2008","unstructured":"Wang, X. et al. Induced ncRNAs allosterically modify RNA-binding proteins in cis to inhibit transcription. Nature 454, 126\u2013130 (2008).","journal-title":"Nature"},{"key":"BFnrneurol201478_CR31","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1128\/MCB.00884-09","volume":"30","author":"AY Tan","year":"2010","unstructured":"Tan, A. Y. & Manley, J. L. TLS inhibits RNA polymerase III transcription. Mol. Cell. Biol. 30, 186\u2013196 (2010).","journal-title":"Mol. Cell. Biol."},{"key":"BFnrneurol201478_CR32","doi-asserted-by":"crossref","first-page":"2690","DOI":"10.1101\/gad.204602.112","volume":"26","author":"JC Schwartz","year":"2012","unstructured":"Schwartz, J. C. et al. FUS binds the CTD of RNA polymerase II and regulates its phosphorylation at Ser2. Genes Dev. 26, 2690\u20132695 (2012).","journal-title":"Genes Dev."},{"key":"BFnrneurol201478_CR33","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1016\/j.cell.2013.10.033","volume":"155","author":"I Kwon","year":"2013","unstructured":"Kwon, I. et al. Phosphorylation-regulated binding of RNA polymerase II to fibrous polymers of low-complexity domains. Cell 155, 1049\u20131060 (2013).","journal-title":"Cell"},{"key":"BFnrneurol201478_CR34","doi-asserted-by":"crossref","first-page":"6030","DOI":"10.1073\/pnas.1203028109","volume":"109","author":"AY Tan","year":"2012","unstructured":"Tan, A. Y., Riley, T. R., Coady, T., Bussemaker, H. J. & Manley, J. L. TLS\/FUS (translocated in liposarcoma\/fused in sarcoma) regulates target gene transcription via single-stranded DNA response elements. Proc. Natl Acad. Sci. USA 109, 6030\u20136035 (2012).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrneurol201478_CR35","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/srep00529","volume":"2","author":"S Ishigaki","year":"2012","unstructured":"Ishigaki, S. et al. Position-dependent FUS\u2013RNA interactions regulate alternative splicing events and transcriptions. Sci. Rep. 2, 529 (2012).","journal-title":"Sci. Rep."},{"key":"BFnrneurol201478_CR36","doi-asserted-by":"crossref","first-page":"2388","DOI":"10.1038\/srep02388","volume":"3","author":"Y Fujioka","year":"2013","unstructured":"Fujioka, Y. et al. FUS-regulated region- and cell-type-specific transcriptome is associated with cell selectivity in ALS\/FTLD. Sci. Rep. 3, 2388 (2013).","journal-title":"Sci. Rep."},{"key":"BFnrneurol201478_CR37","doi-asserted-by":"crossref","first-page":"2513","DOI":"10.1101\/gad.8.21.2513","volume":"8","author":"H Zinszner","year":"1994","unstructured":"Zinszner, H., Albalat, R. & Ron, D. A novel effector domain from the RNA-binding protein TLS or EWS is required for oncogenic transformation by CHOP. Genes Dev. 8, 2513\u20132526 (1994).","journal-title":"Genes Dev."},{"key":"BFnrneurol201478_CR38","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1128\/MCB.18.2.676","volume":"18","author":"WJ Zhang","year":"1998","unstructured":"Zhang, W. J. & Wu, J. Y. Sip1, a novel RS domain-containing protein essential for pre-mRNA splicing. Mol. Cell. Biol. 18, 676\u2013684 (1998).","journal-title":"Mol. Cell. Biol."},{"key":"BFnrneurol201478_CR39","first-page":"3586","volume":"61","author":"HA Chansky","year":"2001","unstructured":"Chansky, H. A., Hu, M., Hickstein, D. D. & Yang, L. Oncogenic TLS\/ERG and EWS\/Fli-1 fusion proteins inhibit RNA splicing mediated by YB-1 protein. Cancer Res. 61, 3586\u20133590 (2001).","journal-title":"Cancer Res."},{"key":"BFnrneurol201478_CR40","doi-asserted-by":"crossref","first-page":"16719","DOI":"10.1073\/pnas.262483899","volume":"99","author":"K Hartmuth","year":"2002","unstructured":"Hartmuth, K. et al. Protein composition of human prespliceosomes isolated by a tobramycin affinity-selection method. Proc. Natl Acad. Sci. USA 99, 16719\u201316724 (2002).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrneurol201478_CR41","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1101\/gr.473902","volume":"12","author":"J Rappsilber","year":"2002","unstructured":"Rappsilber, J., Ryder, U., Lamond, A. I. & Mann, M. Large-scale proteomic analysis of the human spliceosome. Genome Res. 12, 1231\u20131245 (2002).","journal-title":"Genome Res."},{"key":"BFnrneurol201478_CR42","doi-asserted-by":"crossref","first-page":"e2926","DOI":"10.1371\/journal.pone.0002926","volume":"3","author":"M Camats","year":"2008","unstructured":"Camats, M., Guil, S., Kokolo, M. & Bach-Elias, M. P68 RNA helicase (DDX5) alters activity of cis- and trans-acting factors of the alternative splicing of H-Ras. PLoS ONE 3, e2926 (2008).","journal-title":"PLoS ONE"},{"key":"BFnrneurol201478_CR43","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1007\/s00109-013-1077-2","volume":"91","author":"D Orozco","year":"2013","unstructured":"Orozco, D. & Edbauer, D. FUS-mediated alternative splicing in the nervous system: consequences for ALS and FTLD. J. Mol. Med. (Berl.) 91, 1343\u20131354 (2013).","journal-title":"J. Mol. Med. (Berl.)"},{"key":"BFnrneurol201478_CR44","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1038\/embor.2012.90","volume":"13","author":"D Orozco","year":"2012","unstructured":"Orozco, D. et al. Loss of fused in sarcoma (FUS) promotes pathological Tau splicing. EMBO Rep. 13, 759\u2013764 (2012).","journal-title":"EMBO Rep."},{"key":"BFnrneurol201478_CR45","doi-asserted-by":"crossref","first-page":"e1003895","DOI":"10.1371\/journal.pgen.1003895","volume":"9","author":"Y Zhou","year":"2013","unstructured":"Zhou, Y., Liu, S., Liu, G., Ozturk, A. & Hicks, G. G. ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation. PLoS Genet. 9, e1003895 (2013).","journal-title":"PLoS Genet."},{"key":"BFnrneurol201478_CR46","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.cub.2005.01.058","volume":"15","author":"R Fujii","year":"2005","unstructured":"Fujii, R. et al. The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology. Curr. Biol. 15, 587\u2013593 (2005).","journal-title":"Curr. Biol."},{"key":"BFnrneurol201478_CR47","doi-asserted-by":"crossref","first-page":"5755","DOI":"10.1242\/jcs.02692","volume":"118","author":"R Fujii","year":"2005","unstructured":"Fujii, R. & Takumi, T. TLS facilitates transport of mRNA encoding an actin-stabilizing protein to dendritic spines. J. Cell Sci. 118, 5755\u20135765 (2005).","journal-title":"J. Cell Sci."},{"key":"BFnrneurol201478_CR48","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/nature03120","volume":"432","author":"RI Gregory","year":"2004","unstructured":"Gregory, R. I. et al. The Microprocessor complex mediates the genesis of microRNAs. Nature 432, 235\u2013240 (2004).","journal-title":"Nature"},{"key":"BFnrneurol201478_CR49","doi-asserted-by":"crossref","first-page":"4502","DOI":"10.1038\/emboj.2012.319","volume":"31","author":"M Morlando","year":"2012","unstructured":"Morlando, M. et al. FUS stimulates microRNA biogenesis by facilitating co-transcriptional Drosha recruitment. EMBO J. 31, 4502\u20134510 (2012).","journal-title":"EMBO J."},{"key":"BFnrneurol201478_CR50","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1016\/S1474-4422(10)70195-2","volume":"9","author":"IR Mackenzie","year":"2010","unstructured":"Mackenzie, I. R., Rademakers, R. & Neumann, M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol. 9, 995\u20131007 (2010).","journal-title":"Lancet Neurol."},{"key":"BFnrneurol201478_CR51","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1016\/S0140-6736(07)60944-1","volume":"369","author":"JD Mitchell","year":"2007","unstructured":"Mitchell, J. D. & Borasio, G. D. Amyotrophic lateral sclerosis. Lancet 369, 2031\u20132041 (2007).","journal-title":"Lancet"},{"key":"BFnrneurol201478_CR52","doi-asserted-by":"crossref","first-page":"1524","DOI":"10.1093\/hmg\/ddp059","volume":"18","author":"A Chi\u00f2","year":"2009","unstructured":"Chi\u00f2, A. et al. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum. Mol. Genet. 18, 1524\u20131532 (2009).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR53","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/362059a0","volume":"362","author":"DR Rosen","year":"1993","unstructured":"Rosen, D. R. et al. Mutations in Cu\/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362, 59\u201362 (1993).","journal-title":"Nature"},{"key":"BFnrneurol201478_CR54","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1097\/WCO.0b013e32835a3efb","volume":"25","author":"M van Blitterswijk","year":"2012","unstructured":"van Blitterswijk, M., DeJesus-Hernandez, M. & Rademakers, R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr. Opin. Neurol. 25, 689\u2013700 (2012).","journal-title":"Curr. Opin. Neurol."},{"key":"BFnrneurol201478_CR55","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1126\/science.281.5384.1851","volume":"281","author":"LI Bruijn","year":"1998","unstructured":"Bruijn, L. I. et al. Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1. Science 281, 1851\u20131854 (1998).","journal-title":"Science"},{"key":"BFnrneurol201478_CR56","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1212\/WNL.0b013e3181bbfeef","volume":"73","author":"VV Belzil","year":"2009","unstructured":"Belzil, V. V. et al. Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology 73, 1176\u20131179 (2009).","journal-title":"Neurology"},{"key":"BFnrneurol201478_CR57","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1212\/WNL.0b013e3181ed9cde","volume":"75","author":"D B\u00e4umer","year":"2010","unstructured":"B\u00e4umer, D. et al. Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology 75, 611\u2013618 (2010).","journal-title":"Neurology"},{"key":"BFnrneurol201478_CR58","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/mus.21665","volume":"42","author":"R Rademakers","year":"2010","unstructured":"Rademakers, R. et al. FUS gene mutations in familial and sporadic amyotrophic lateral sclerosis. Muscle Nerve 42, 170\u2013176 (2010).","journal-title":"Muscle Nerve"},{"key":"BFnrneurol201478_CR59","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/s00401-011-0838-7","volume":"122","author":"IR Mackenzie","year":"2011","unstructured":"Mackenzie, I. R. et al. Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation. Acta Neuropathol. 122, 87\u201398 (2011).","journal-title":"Acta Neuropathol."},{"key":"BFnrneurol201478_CR60","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.jns.2012.08.016","volume":"323","author":"Y Mochizuki","year":"2012","unstructured":"Mochizuki, Y. et al. Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement. J. Neurol. Sci. 323, 85\u201392 (2012).","journal-title":"J. Neurol. Sci."},{"key":"BFnrneurol201478_CR61","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1097\/NEN.0b013e318264f164","volume":"71","author":"N Suzuki","year":"2012","unstructured":"Suzuki, N. et al. FUS\/TLS-immunoreactive neuronal and glial cell inclusions increase with disease duration in familial amyotrophic lateral sclerosis with an R521C FUS\/TLS mutation. J. Neuropathol. Exp. Neurol. 71, 779\u2013788 (2012).","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"BFnrneurol201478_CR62","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1136\/jnnp.2009.194399","volume":"81","author":"IP Blair","year":"2010","unstructured":"Blair, I. P. et al. FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis. J. Neurol. Neurosurg. Psychiatry 81, 639\u2013645 (2010).","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"BFnrneurol201478_CR63","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1001\/archneurol.2010.52","volume":"67","author":"C Hewitt","year":"2010","unstructured":"Hewitt, C. et al. Novel FUS\/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. Arch. Neurol. 67, 455\u2013461 (2010).","journal-title":"Arch. Neurol."},{"key":"BFnrneurol201478_CR64","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1038\/jhg.2010.16","volume":"55","author":"N Suzuki","year":"2010","unstructured":"Suzuki, N. et al. FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion. J. Hum. Genet. 55, 252\u2013254 (2010).","journal-title":"J. Hum. Genet."},{"key":"BFnrneurol201478_CR65","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/s00401-009-0621-1","volume":"119","author":"T Tateishi","year":"2010","unstructured":"Tateishi, T. et al. Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation. Acta Neuropathol. 119, 355\u2013364 (2010).","journal-title":"Acta Neuropathol."},{"key":"BFnrneurol201478_CR66","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1111\/j.1750-3639.2010.00413.x","volume":"20","author":"EJ Huang","year":"2010","unstructured":"Huang, E. J. et al. Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions. Brain Pathol. 20, 1069\u20131076 (2010).","journal-title":"Brain Pathol."},{"key":"BFnrneurol201478_CR67","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.jns.2010.03.029","volume":"293","author":"Z Kobayashi","year":"2010","unstructured":"Kobayashi, Z. et al. Occurrence of basophilic inclusions and FUS-immunoreactive neuronal and glial inclusions in a case of familial amyotrophic lateral sclerosis. J. Neurol. Sci. 293, 6\u201311 (2010).","journal-title":"J. Neurol. Sci."},{"key":"BFnrneurol201478_CR68","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1111\/j.1440-1789.2010.01129.x","volume":"31","author":"T Matsuoka","year":"2011","unstructured":"Matsuoka, T. et al. An autopsied case of sporadic adult-onset amyotrophic lateral sclerosis with FUS-positive basophilic inclusions. Neuropathology 31, 71\u201376 (2011).","journal-title":"Neuropathology"},{"key":"BFnrneurol201478_CR69","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1001\/archneurol.2009.329","volume":"67","author":"EJ Groen","year":"2010","unstructured":"Groen, E. J. et al. FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands. Arch. Neurol. 67, 224\u2013230 (2010).","journal-title":"Arch. Neurol."},{"key":"BFnrneurol201478_CR70","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1111\/j.1365-2990.2012.01300.x","volume":"39","author":"C Troakes","year":"2013","unstructured":"Troakes, C. et al. Transportin 1 colocalization with Fused in Sarcoma (FUS) inclusions is not characteristic for amyotrophic lateral sclerosis-FUS confirming disrupted nuclear import of mutant FUS and distinguishing it from frontotemporal lobar degeneration with FUS inclusions. Neuropathol. Appl. Neurobiol. 39, 553\u2013561 (2013).","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"BFnrneurol201478_CR71","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1111\/ane.12114","volume":"128","author":"Y Oketa","year":"2013","unstructured":"Oketa, Y., Higashida, K., Fukasawa, H., Tsukie, T. & Ono, S. Abundant FUS-immunoreactive pathology in the skin of sporadic amyotrophic lateral sclerosis. Acta Neurol. Scand. 128, 257\u2013264 (2013).","journal-title":"Acta Neurol. Scand."},{"key":"BFnrneurol201478_CR72","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/s00401-012-1029-x","volume":"124","author":"A Sieben","year":"2012","unstructured":"Sieben, A. et al. The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol. 124, 353\u2013372 (2012).","journal-title":"Acta Neuropathol."},{"key":"BFnrneurol201478_CR73","doi-asserted-by":"crossref","first-page":"1803","DOI":"10.1001\/archneur.58.11.1803","volume":"58","author":"GM McKhann","year":"2001","unstructured":"McKhann, G. M. et al. Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch. Neurol. 58, 1803\u20131809 (2001).","journal-title":"Arch. Neurol."},{"key":"BFnrneurol201478_CR74","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1002\/ana.20873","volume":"59","author":"MS Forman","year":"2006","unstructured":"Forman, M. S. et al. Frontotemporal dementia: clinicopathological correlations. Ann. Neurol. 59, 952\u2013962 (2006).","journal-title":"Ann. Neurol."},{"key":"BFnrneurol201478_CR75","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/j.bbrc.2006.10.093","volume":"351","author":"T Arai","year":"2006","unstructured":"Arai, T. et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem. Biophys. Res. Commun. 351, 602\u2013611 (2006).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFnrneurol201478_CR76","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1126\/science.1134108","volume":"314","author":"M Neumann","year":"2006","unstructured":"Neumann, M. et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314, 130\u2013133 (2006).","journal-title":"Science"},{"key":"BFnrneurol201478_CR77","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1002\/ana.21147","volume":"61","author":"IR Mackenzie","year":"2007","unstructured":"Mackenzie, I. R. et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann. Neurol. 61, 427\u2013434 (2007).","journal-title":"Ann. Neurol."},{"key":"BFnrneurol201478_CR78","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/j.mcn.2013.03.006","volume":"56","author":"D Dormann","year":"2013","unstructured":"Dormann, D. & Haass, C. Fused in sarcoma (FUS): an oncogene goes awry in neurodegeneration. Mol. Cell. Neurosci. 56, 475\u2013486 (2013).","journal-title":"Mol. Cell. Neurosci."},{"key":"BFnrneurol201478_CR79","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1093\/brain\/awn061","volume":"131","author":"IR Mackenzie","year":"2008","unstructured":"Mackenzie, I. R., Foti, D., Woulfe, J. & Hurwitz, T. A. Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions. Brain 131, 1282\u20131293 (2008).","journal-title":"Brain"},{"key":"BFnrneurol201478_CR80","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00401-009-0612-2","volume":"119","author":"IR Mackenzie","year":"2010","unstructured":"Mackenzie, I. R. et al. Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol. 119, 1\u20134 (2010).","journal-title":"Acta Neuropathol."},{"key":"BFnrneurol201478_CR81","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1038\/nrneurol.2012.117","volume":"8","author":"R Rademakers","year":"2012","unstructured":"Rademakers, R., Neumann, M. & Mackenzie, I. R. Advances in understanding the molecular basis of frontotemporal dementia. Nat. Rev. Neurol. 8, 423\u2013434 (2012).","journal-title":"Nat. Rev. Neurol."},{"key":"BFnrneurol201478_CR82","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.jns.2013.08.035","volume":"335","author":"Z Kobayashi","year":"2013","unstructured":"Kobayashi, Z. et al. Pathological features of FTLD-FUS in a Japanese population: analyses of nine cases. J. Neurol. Sci. 335, 89\u201395 (2013).","journal-title":"J. Neurol. Sci."},{"key":"BFnrneurol201478_CR83","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1212\/01.WNL.0000139809.16817.DD","volume":"63","author":"NJ Cairns","year":"2004","unstructured":"Cairns, N. J. et al. Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease. Neurology 63, 1376\u20131384 (2004).","journal-title":"Neurology"},{"key":"BFnrneurol201478_CR84","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/s00401-007-0329-z","volume":"115","author":"O Yokota","year":"2008","unstructured":"Yokota, O. et al. Basophilic inclusion body disease and neuronal intermediate filament inclusion disease: a comparative clinicopathological study. Acta Neuropathol. 115, 561\u2013575 (2008).","journal-title":"Acta Neuropathol."},{"key":"BFnrneurol201478_CR85","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1007\/s00401-009-0598-9","volume":"118","author":"DG Munoz","year":"2009","unstructured":"Munoz, D. G. et al. FUS pathology in basophilic inclusion body disease. Acta Neuropathol. 118, 617\u2013627 (2009).","journal-title":"Acta Neuropathol."},{"key":"BFnrneurol201478_CR86","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/2051-5960-1-1","volume":"1","author":"EB Lee","year":"2013","unstructured":"Lee, E. B. et al. Topography of FUS pathology distinguishes late-onset BIBD from aFTLD-U. Acta Neuropathol. Commun. 1, 1\u201311 (2013).","journal-title":"Acta Neuropathol. Commun."},{"key":"BFnrneurol201478_CR87","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s00401-010-0764-0","volume":"121","author":"IR Mackenzie","year":"2011","unstructured":"Mackenzie, I. R. et al. Distinct pathological subtypes of FTLD-FUS. Acta Neuropathol. 121, 207\u2013218 (2011).","journal-title":"Acta Neuropathol."},{"key":"BFnrneurol201478_CR88","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/nrneurol.2010.18","volume":"6","author":"AS Chen-Plotkin","year":"2010","unstructured":"Chen-Plotkin, A. S., Lee, V. M. & Trojanowski, J. Q. TAR DNA-binding protein 43 in neurodegenerative disease. Nat. Rev. Neurol. 6, 211\u2013220 (2010).","journal-title":"Nat. Rev. Neurol."},{"key":"BFnrneurol201478_CR89","doi-asserted-by":"crossref","first-page":"6489","DOI":"10.1074\/jbc.M705306200","volume":"283","author":"H Doi","year":"2008","unstructured":"Doi, H. et al. RNA-binding protein TLS is a major nuclear aggregate-interacting protein in huntingtin exon 1 with expanded polyglutamine-expressing cells. J. Biol. Chem. 283, 6489\u20136500 (2008).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol201478_CR90","doi-asserted-by":"crossref","first-page":"1272","DOI":"10.1016\/j.neurobiolaging.2009.05.001","volume":"30","author":"A Chi\u00f2","year":"2009","unstructured":"Chi\u00f2, A. et al. Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol. Aging 30, 1272\u20131275 (2009).","journal-title":"Neurobiol. Aging"},{"key":"BFnrneurol201478_CR91","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1212\/WNL.0b013e3181bbff05","volume":"73","author":"N Ticozzi","year":"2009","unstructured":"Ticozzi, N. et al. Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort. Neurology 73, 1180\u20131185 (2009).","journal-title":"Neurology"},{"key":"BFnrneurol201478_CR92","doi-asserted-by":"crossref","first-page":"4160","DOI":"10.1093\/hmg\/ddq335","volume":"19","author":"DA Bosco","year":"2010","unstructured":"Bosco, D. A. et al. Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules. Hum. Mol. Genet. 19, 4160\u20134175 (2010).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR93","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1136\/jmg.2009.071027","volume":"47","author":"L Corrado","year":"2010","unstructured":"Corrado, L. et al. Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J. Med. Genet. 47, 190\u2013194 (2010).","journal-title":"J. Med. Genet."},{"key":"BFnrneurol201478_CR94","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1111\/j.1468-1331.2009.02859.x","volume":"17","author":"PV Damme","year":"2010","unstructured":"Damme, P. V. et al. The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS. Eur. J. Neurol. 17, 754\u2013756 (2010).","journal-title":"Eur. J. Neurol."},{"key":"BFnrneurol201478_CR95","doi-asserted-by":"crossref","first-page":"E1377","DOI":"10.1002\/humu.21241","volume":"31","author":"M DeJesus-Hernandez","year":"2010","unstructured":"DeJesus-Hernandez, M. et al. De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis. Hum. Mutat. 31, E1377\u2013E1389 (2010).","journal-title":"Hum. Mutat."},{"key":"BFnrneurol201478_CR96","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1136\/jmg.2010.077180","volume":"47","author":"S Millecamps","year":"2010","unstructured":"Millecamps, S. et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J. Med. Genet. 47, 554\u2013560 (2010).","journal-title":"J. Med. Genet."},{"key":"BFnrneurol201478_CR97","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1212\/WNL.0b013e3181f07e26","volume":"75","author":"S Waibel","year":"2010","unstructured":"Waibel, S., Neumann, M., Rabe, M., Meyer, T. & Ludolph, A. C. Novel missense and truncating mutations in FUS\/TLS in familial ALS. Neurology 75, 815\u2013817 (2010).","journal-title":"Neurology"},{"key":"BFnrneurol201478_CR98","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.jns.2010.06.008","volume":"296","author":"Y Yamamoto-Watanabe","year":"2010","unstructured":"Yamamoto-Watanabe, Y. et al. A Japanese ALS6 family with mutation R521C in the FUS\/TLS gene: a clinical, pathological and genetic report. J. Neurol. Sci. 296, 59\u201363 (2010).","journal-title":"J. Neurol. Sci."},{"key":"BFnrneurol201478_CR99","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1212\/WNL.0b013e3181f07e0c","volume":"75","author":"J Yan","year":"2010","unstructured":"Yan, J. et al. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS\/dementia. Neurology 75, 807\u2013814 (2010).","journal-title":"Neurology"},{"key":"BFnrneurol201478_CR100","doi-asserted-by":"crossref","first-page":"113","DOI":"10.3109\/17482968.2010.536840","volume":"12","author":"VV Belzil","year":"2011","unstructured":"Belzil, V. V. et al. Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. 12, 113\u2013117 (2011).","journal-title":"Amyotroph. Lateral Scler."},{"key":"BFnrneurol201478_CR101","doi-asserted-by":"crossref","first-page":"553.e23","DOI":"10.1016\/j.neurobiolaging.2010.05.016","volume":"32","author":"A Chi\u00f2","year":"2011","unstructured":"Chi\u00f2, A. et al. A de novo missense mutation of the FUS gene in a \u201ctrue\u201d sporadic ALS case. Neurobiol. Aging 32, 553.e23\u2013553.e26 (2011).","journal-title":"Neurobiol. Aging"},{"key":"BFnrneurol201478_CR102","doi-asserted-by":"crossref","first-page":"548.e1","DOI":"10.1016\/j.neurobiolaging.2009.11.017","volume":"32","author":"C Drepper","year":"2011","unstructured":"Drepper, C., Herrmann, T., Wessig, C., Beck, M. & Sendtner, M. C-terminal FUS\/TLS mutations in familial and sporadic ALS in Germany. Neurobiol. Aging 32, 548.e1\u2013548.e4 (2011).","journal-title":"Neurobiol. Aging"},{"key":"BFnrneurol201478_CR103","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1007\/s12031-011-9637-9","volume":"45","author":"F Fecto","year":"2011","unstructured":"Fecto, F. & Siddique, T. Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia. J. Mol. Neurosci. 45, 663\u2013675 (2011).","journal-title":"J. Mol. Neurosci."},{"key":"BFnrneurol201478_CR104","doi-asserted-by":"crossref","first-page":"550.e1","DOI":"10.1016\/j.neurobiolaging.2009.12.020","volume":"32","author":"SL Lai","year":"2011","unstructured":"Lai, S. L. et al. FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiol. Aging 32, 550.e1\u2013550.e4 (2011).","journal-title":"Neurobiol. Aging"},{"key":"BFnrneurol201478_CR105","doi-asserted-by":"crossref","first-page":"553.e27","DOI":"10.1016\/j.neurobiolaging.2010.05.015","volume":"32","author":"J Robertson","year":"2011","unstructured":"Robertson, J. et al. A novel double mutation in FUS gene causing sporadic ALS. Neurobiol. Aging 32, 553.e27\u2013553.e30 (2011).","journal-title":"Neurobiol. Aging"},{"key":"BFnrneurol201478_CR106","doi-asserted-by":"crossref","first-page":"118","DOI":"10.3109\/17482968.2010.539235","volume":"12","author":"E Syriani","year":"2011","unstructured":"Syriani, E., Morales, M. & Gamez, J. FUS\/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population. Amyotroph. Lateral Scler. 12, 118\u2013123 (2011).","journal-title":"Amyotroph. Lateral Scler."},{"key":"BFnrneurol201478_CR107","doi-asserted-by":"crossref","first-page":"553.e13","DOI":"10.1016\/j.neurobiolaging.2010.04.009","volume":"32","author":"CP Tsai","year":"2011","unstructured":"Tsai, C. P. et al. FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS. Neurobiol. Aging 32, 553.e13\u2013553.e21 (2011).","journal-title":"Neurobiol. Aging"},{"key":"BFnrneurol201478_CR108","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1001\/archneurol.2011.2499","volume":"69","author":"VV Belzil","year":"2012","unstructured":"Belzil, V. V. et al. Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis. Arch. Neurol. 69, 653\u2013656 (2012).","journal-title":"Arch. Neurol."},{"key":"BFnrneurol201478_CR109","doi-asserted-by":"crossref","first-page":"217","DOI":"10.3109\/17482968.2011.643899","volume":"13","author":"JA Brown","year":"2012","unstructured":"Brown, J. A. et al. SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience. Amyotroph. Lateral Scler. 13, 217\u2013222 (2012).","journal-title":"Amyotroph. Lateral Scler."},{"key":"BFnrneurol201478_CR110","doi-asserted-by":"crossref","first-page":"1983","DOI":"10.1212\/WNL.0b013e3182735d36","volume":"79","author":"A Chi\u00f2","year":"2012","unstructured":"Chi\u00f2, A. et al. Extensive genetics of ALS: a population-based study in Italy. Neurology 79, 1983\u20131989 (2012).","journal-title":"Neurology"},{"key":"BFnrneurol201478_CR111","doi-asserted-by":"crossref","first-page":"2237","DOI":"10.1007\/s00415-012-6542-2","volume":"259","author":"M Hara","year":"2012","unstructured":"Hara, M. et al. Lower motor neuron disease caused by a novel FUS\/TLS gene frameshift mutation. J. Neurol. 259, 2237\u20132239 (2012).","journal-title":"J. Neurol."},{"key":"BFnrneurol201478_CR112","doi-asserted-by":"crossref","first-page":"1017.e17","DOI":"10.1016\/j.neurobiolaging.2011.12.003","volume":"33","author":"MJ Kwon","year":"2012","unstructured":"Kwon, M. J. et al. Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS. Neurobiol. Aging 33, 1017.e17\u20131017.e23 (2012).","journal-title":"Neurobiol. Aging"},{"key":"BFnrneurol201478_CR113","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1212\/WNL.0b013e31825dceca","volume":"79","author":"S Lattante","year":"2012","unstructured":"Lattante, S. et al. Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease. Neurology 79, 66\u201372 (2012).","journal-title":"Neurology"},{"key":"BFnrneurol201478_CR114","doi-asserted-by":"crossref","first-page":"1738","DOI":"10.1016\/j.jocn.2012.04.003","volume":"19","author":"S Nagayama","year":"2012","unstructured":"Nagayama, S. et al. Novel FUS mutation in patients with sporadic amyotrophic lateral sclerosis and corticobasal degeneration. J. Clin. Neurosci. 19, 1738\u20131739 (2012).","journal-title":"J. Clin. Neurosci."},{"key":"BFnrneurol201478_CR115","doi-asserted-by":"crossref","first-page":"837.e1","DOI":"10.1016\/j.neurobiolaging.2011.10.005","volume":"33","author":"W Sproviero","year":"2012","unstructured":"Sproviero, W. et al. FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. Neurobiol. Aging 33, 837.e1\u2013837.e5 (2012).","journal-title":"Neurobiol. Aging"},{"key":"BFnrneurol201478_CR116","doi-asserted-by":"crossref","first-page":"3776","DOI":"10.1093\/hmg\/dds199","volume":"21","author":"M van Blitterswijk","year":"2012","unstructured":"van Blitterswijk, M. et al. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum. Mol. Genet. 21, 3776\u20133784 (2012).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR117","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1007\/s00415-011-6292-6","volume":"259","author":"S Yamashita","year":"2012","unstructured":"Yamashita, S. et al. Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS\/TLS: possible association of mental retardation with this mutation. J. Neurol. 259, 1039\u20131044 (2012).","journal-title":"J. Neurol."},{"key":"BFnrneurol201478_CR118","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1111\/j.1468-1331.2012.03662.x","volume":"19","author":"ZY Zou","year":"2012","unstructured":"Zou, Z. Y. et al. Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin. Eur. J. Neurol. 19, 977\u2013983 (2012).","journal-title":"Eur. J. Neurol."},{"key":"BFnrneurol201478_CR119","doi-asserted-by":"crossref","first-page":"1312.e1","DOI":"10.1016\/j.neurobiolaging.2012.09.005","volume":"34","author":"ZY Zou","year":"2013","unstructured":"Zou, Z. Y. et al. De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. Neurobiol. Aging 34, 1312.e1\u20131312.e8 (2013).","journal-title":"Neurobiol. Aging"},{"key":"BFnrneurol201478_CR120","doi-asserted-by":"crossref","first-page":"4748","DOI":"10.1093\/hmg\/ddt328","volume":"22","author":"M Sabatelli","year":"2013","unstructured":"Sabatelli, M. et al. Mutations in the 3\u2032 untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis. Hum. Mol. Genet. 22, 4748\u20134755 (2013).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR121","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.tins.2011.05.002","volume":"34","author":"D Dormann","year":"2011","unstructured":"Dormann, D. & Haass, C. TDP-43 and FUS: a nuclear affair. Trends Neurosci. 34, 339\u2013348 (2011).","journal-title":"Trends Neurosci."},{"key":"BFnrneurol201478_CR122","doi-asserted-by":"crossref","first-page":"2323.e27","DOI":"10.1016\/j.neurobiolaging.2010.06.010","volume":"32","author":"J Gal","year":"2011","unstructured":"Gal, J. et al. Nuclear localization sequence of FUS and induction of stress granules by ALS mutants. Neurobiol. Aging 32, 2323.e27\u20132323.e40 (2011).","journal-title":"Neurobiol. Aging"},{"key":"BFnrneurol201478_CR123","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1002\/ana.22246","volume":"69","author":"D Ito","year":"2011","unstructured":"Ito, D., Seki, M., Tsunoda, Y., Uchiyama, H. & Suzuki, N. Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS\/TLS. Ann. Neurol. 69, 152\u2013162 (2011).","journal-title":"Ann. Neurol."},{"key":"BFnrneurol201478_CR124","doi-asserted-by":"crossref","first-page":"2781","DOI":"10.1093\/nar\/gkq1162","volume":"39","author":"Y Kino","year":"2011","unstructured":"Kino, Y. et al. Intracellular localization and splicing regulation of FUS\/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations. Nucleic Acids Res. 39, 2781\u20132798 (2011).","journal-title":"Nucleic Acids Res."},{"key":"BFnrneurol201478_CR125","doi-asserted-by":"crossref","first-page":"e47056","DOI":"10.1371\/journal.pone.0047056","volume":"7","author":"C Niu","year":"2012","unstructured":"Niu, C. et al. FUS-NLS\/Transportin 1 complex structure provides insights into the nuclear targeting mechanism of FUS and the implications in ALS. PLoS ONE 7, e47056 (2012).","journal-title":"PLoS ONE"},{"key":"BFnrneurol201478_CR126","doi-asserted-by":"crossref","first-page":"12017","DOI":"10.1073\/pnas.1207247109","volume":"109","author":"ZC Zhang","year":"2012","unstructured":"Zhang, Z. C. & Chook, Y. M. Structural and energetic basis of ALS-causing mutations in the atypical proline-tyrosine nuclear localization signal of the fused in sarcoma protein (FUS). Proc. Natl Acad. Sci. USA 109, 12017\u201312021 (2012).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrneurol201478_CR127","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1074\/jbc.M113.516492","volume":"289","author":"T Nomura","year":"2014","unstructured":"Nomura, T. et al. Intranuclear aggregation of mutant FUS\/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis. J. Biol. Chem. 289, 1192\u20131202 (2014).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol201478_CR128","doi-asserted-by":"crossref","first-page":"1016.e9","DOI":"10.1016\/j.neurobiolaging.2011.08.004","volume":"33","author":"ED Huey","year":"2012","unstructured":"Huey, E. D. et al. FUS and TDP43 genetic variability in FTD and CBS. Neurobiol. Aging 33, 1016.e9\u20131016.e17 (2012).","journal-title":"Neurobiol. Aging"},{"key":"BFnrneurol201478_CR129","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1093\/brain\/awm018","volume":"130","author":"H Deng","year":"2007","unstructured":"Deng, H., Le, W. & Jankovic, J. Genetics of essential tremor. Brain 130, 1456\u20131464 (2007).","journal-title":"Brain"},{"key":"BFnrneurol201478_CR130","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/nrneurol.2011.44","volume":"7","author":"F Bermejo-Pareja","year":"2011","unstructured":"Bermejo-Pareja, F. Essential tremor\u2014a neurodegenerative disorder associated with cognitive defects? Nat. Rev. Neurol. 7, 273\u2013282 (2011).","journal-title":"Nat. Rev. Neurol."},{"key":"BFnrneurol201478_CR131","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1111\/ene.12231","volume":"21","author":"A Rajput","year":"2014","unstructured":"Rajput, A. et al. Identification of FUS p.R377W in essential tremor. Eur. J. Neurol. 21, 361\u2013363 (2014).","journal-title":"Eur. J. Neurol."},{"key":"BFnrneurol201478_CR132","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1212\/WNL.0b013e31829e700c","volume":"81","author":"YR Wu","year":"2013","unstructured":"Wu, Y. R. et al. Identification of a novel risk variant in the FUS gene in essential tremor. Neurology 81, 541\u2013544 (2013).","journal-title":"Neurology"},{"key":"BFnrneurol201478_CR133","doi-asserted-by":"crossref","first-page":"2078.e3","DOI":"10.1016\/j.neurobiolaging.2013.03.001","volume":"34","author":"W Zheng","year":"2013","unstructured":"Zheng, W. et al. Genetic analysis of the fused in sarcoma gene in Chinese Han patients with essential tremor. Neurobiol. Aging 34, 2078.e3\u20132078.e4 (2013).","journal-title":"Neurobiol. Aging"},{"key":"BFnrneurol201478_CR134","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1016\/j.parkreldis.2013.04.009","volume":"19","author":"P Hedera","year":"2013","unstructured":"Hedera, P., Davis, T. L., Phibbs, F. T., Charles, P. D. & Ledoux, M. S. FUS in familial essential tremor\u2014the search for common causes is still on. Parkinsonism Relat. Disord. 19, 818\u2013820 (2013).","journal-title":"Parkinsonism Relat. Disord."},{"key":"BFnrneurol201478_CR135","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/j.parkreldis.2013.03.005","volume":"19","author":"C Labbe","year":"2013","unstructured":"Labbe, C. et al. Investigating the role of FUS exonic variants in essential tremor. Parkinsonism Relat. Disord. 19, 755\u2013757 (2013).","journal-title":"Parkinsonism Relat. Disord."},{"key":"BFnrneurol201478_CR136","doi-asserted-by":"crossref","first-page":"2441.e9","DOI":"10.1016\/j.neurobiolaging.2013.04.024","volume":"34","author":"S Ortega-Cubero","year":"2013","unstructured":"Ortega-Cubero, S. et al. Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans. Neurobiol. Aging 34, 2441.e9\u20132441.e11 (2013).","journal-title":"Neurobiol. Aging"},{"key":"BFnrneurol201478_CR137","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1111\/ene.12023","volume":"20","author":"N Parmalee","year":"2013","unstructured":"Parmalee, N. et al. Genetic analysis of the FUS\/TLS gene in essential tremor. Eur. J. Neurol. 20, 534\u2013539 (2013).","journal-title":"Eur. J. Neurol."},{"key":"BFnrneurol201478_CR138","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.parkreldis.2013.09.010","volume":"20","author":"K Gao","year":"2014","unstructured":"Gao, K. et al. Genetic analysis of the fused in sarcoma gene in Chinese Han patients with Parkinson's disease. Parkinsonism Relat. Disord. 20, 119\u2013121 (2014).","journal-title":"Parkinsonism Relat. Disord."},{"key":"BFnrneurol201478_CR139","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/mds.23512","volume":"26","author":"R Fekete","year":"2011","unstructured":"Fekete, R. & Jankovic, J. Revisiting the relationship between essential tremor and Parkinson's disease. Mov. Disord. 26, 391\u2013398 (2011).","journal-title":"Mov. Disord."},{"key":"BFnrneurol201478_CR140","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1002\/mds.22184","volume":"23","author":"C Stamper","year":"2008","unstructured":"Stamper, C. et al. Neuronal gene expression correlates of Parkinson's disease with dementia. Mov. Disord. 23, 1588\u20131595 (2008).","journal-title":"Mov. Disord."},{"key":"BFnrneurol201478_CR141","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/nrn3121","volume":"13","author":"EB Lee","year":"2012","unstructured":"Lee, E. B., Lee, V. M. & Trojanowski, J. Q. Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration. Nat. Rev. Neurosci. 13, 38\u201350 (2012).","journal-title":"Nat. Rev. Neurosci."},{"key":"BFnrneurol201478_CR142","doi-asserted-by":"crossref","first-page":"13318","DOI":"10.1073\/pnas.1008227107","volume":"107","author":"SC Ling","year":"2010","unstructured":"Ling, S. C. et al. ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS\/TLS. Proc. Natl Acad. Sci. USA 107, 13318\u201313323 (2010).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrneurol201478_CR143","doi-asserted-by":"crossref","first-page":"e1002214","DOI":"10.1371\/journal.pgen.1002214","volume":"7","author":"E Kabashi","year":"2011","unstructured":"Kabashi, E. et al. FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis. PLoS Genet. 7, e1002214 (2011).","journal-title":"PLoS Genet."},{"key":"BFnrneurol201478_CR144","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/s13238-011-1525-0","volume":"2","author":"D Kryndushkin","year":"2011","unstructured":"Kryndushkin, D., Wickner, R. B. & Shewmaker, F. FUS\/TLS forms cytoplasmic aggregates, inhibits cell growth and interacts with TDP-43 in a yeast model of amyotrophic lateral sclerosis. Protein Cell 2, 223\u2013236 (2011).","journal-title":"Protein Cell"},{"key":"BFnrneurol201478_CR145","doi-asserted-by":"crossref","first-page":"2510","DOI":"10.1093\/hmg\/ddr150","volume":"20","author":"NA Lanson Jr","year":"2011","unstructured":"Lanson, N. A., Jr et al. A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43. Hum. Mol. Genet. 20, 2510\u20132523 (2011).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR146","doi-asserted-by":"crossref","first-page":"4118","DOI":"10.1172\/JCI57883","volume":"121","author":"JW Wang","year":"2011","unstructured":"Wang, J. W., Brent, J. R., Tomlinson, A., Shneider, N. A. & McCabe, B. D. The ALS-associated proteins FUS and TDP-43 function together to affect Drosophila locomotion and life span. J. Clin. Invest. 121, 4118\u20134126 (2011).","journal-title":"J. Clin. Invest."},{"key":"BFnrneurol201478_CR147","doi-asserted-by":"crossref","first-page":"2595","DOI":"10.1093\/brain\/awr201","volume":"134","author":"M Neumann","year":"2011","unstructured":"Neumann, M. et al. FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations. Brain 134, 2595\u20132609 (2011).","journal-title":"Brain"},{"key":"BFnrneurol201478_CR148","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.brainres.2011.12.010","volume":"1462","author":"IR Mackenzie","year":"2012","unstructured":"Mackenzie, I. R. & Neumann, M. FET proteins in frontotemporal dementia and amyotrophic lateral sclerosis. Brain Res. 1462, 40\u201343 (2012).","journal-title":"Brain Res."},{"key":"BFnrneurol201478_CR149","doi-asserted-by":"crossref","first-page":"4965","DOI":"10.1096\/fj.13-234435","volume":"27","author":"C Thomsen","year":"2013","unstructured":"Thomsen, C., Grundevik, P., Elias, P., Stahlberg, A. & Aman, P. A conserved N-terminal motif is required for complex formation between FUS, EWSR1, TAF15 and their oncogenic fusion proteins. FASEB J. 27, 4965\u20134974 (2013).","journal-title":"FASEB J."},{"key":"BFnrneurol201478_CR150","doi-asserted-by":"crossref","first-page":"20881","DOI":"10.1073\/pnas.1109434108","volume":"108","author":"J Couthouis","year":"2011","unstructured":"Couthouis, J. et al. A yeast functional screen predicts new candidate ALS disease genes. Proc. Natl Acad. Sci. USA 108, 20881\u201320890 (2011).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrneurol201478_CR151","doi-asserted-by":"crossref","first-page":"2899","DOI":"10.1093\/hmg\/dds116","volume":"21","author":"J Couthouis","year":"2012","unstructured":"Couthouis, J. et al. Evaluating the role of the FUS\/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Hum. Mol. Genet. 21, 2899\u20132911 (2012).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR152","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/ajmg.b.31158","volume":"156","author":"N Ticozzi","year":"2011","unstructured":"Ticozzi, N. et al. Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis. Am. J. Med. Genet. B Neuropsychiatr. Genet. 156, 285\u2013290 (2011).","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"BFnrneurol201478_CR153","doi-asserted-by":"crossref","first-page":"E2371","DOI":"10.1073\/pnas.1301738110","volume":"110","author":"A Sen","year":"2013","unstructured":"Sen, A. et al. Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy. Proc. Natl Acad. Sci. USA 110, E2371\u2013E2380 (2013).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrneurol201478_CR154","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/j.celrep.2012.08.025","volume":"2","author":"T Yamazaki","year":"2012","unstructured":"Yamazaki, T. et al. FUS\u2013SMN protein interactions link the motor neuron diseases ALS and SMA. Cell Rep. 2, 799\u2013806 (2012).","journal-title":"Cell Rep."},{"key":"BFnrneurol201478_CR155","doi-asserted-by":"crossref","first-page":"3690","DOI":"10.1093\/hmg\/ddt222","volume":"22","author":"EJ Groen","year":"2013","unstructured":"Groen, E. J. et al. ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN. Hum. Mol. Genet. 22, 3690\u20133704 (2013).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR156","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1007\/s00401-013-1125-6","volume":"125","author":"AM Blokhuis","year":"2013","unstructured":"Blokhuis, A. M., Groen, E. J., Koppers, M., van den Berg, L. H. & Pasterkamp, R. J. Protein aggregation in amyotrophic lateral sclerosis. Acta Neuropathol. 125, 777\u2013794 (2013).","journal-title":"Acta Neuropathol."},{"key":"BFnrneurol201478_CR157","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.neuron.2013.07.033","volume":"79","author":"SC Ling","year":"2013","unstructured":"Ling, S. C., Polymenidou, M. & Cleveland, D. W. Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron 79, 416\u2013438 (2013).","journal-title":"Neuron"},{"key":"BFnrneurol201478_CR158","doi-asserted-by":"crossref","first-page":"23079","DOI":"10.1074\/jbc.M111.328757","volume":"287","author":"E Bentmann","year":"2012","unstructured":"Bentmann, E. et al. Requirements for stress granule recruitment of fused in sarcoma (FUS) and TAR DNA-binding protein of 43 kDa (TDP-43). J. Biol. Chem. 287, 23079\u201323094 (2012).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol201478_CR159","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/j.cell.2012.04.017","volume":"149","author":"M Kato","year":"2012","unstructured":"Kato, M. et al. Cell-free formation of RNA granules: low complexity sequence domains form dynamic fibers within hydrogels. Cell 149, 753\u2013767 (2012).","journal-title":"Cell"},{"key":"BFnrneurol201478_CR160","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1093\/hmg\/dds526","volume":"22","author":"JG Daigle","year":"2013","unstructured":"Daigle, J. G. et al. RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations. Hum. Mol. Genet. 22, 1193\u20131205 (2013).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR161","doi-asserted-by":"crossref","first-page":"2676","DOI":"10.1093\/hmg\/ddt117","volume":"22","author":"C Vance","year":"2013","unstructured":"Vance, C. et al. ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules. Hum. Mol. Genet. 22, 2676\u20132688 (2013).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR162","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/1471-2121-9-37","volume":"9","author":"MK Andersson","year":"2008","unstructured":"Andersson, M. K. et al. The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response. BMC Cell Biol. 9, 37 (2008).","journal-title":"BMC Cell Biol."},{"key":"BFnrneurol201478_CR163","doi-asserted-by":"crossref","first-page":"e46251","DOI":"10.1371\/journal.pone.0046251","volume":"7","author":"J Blechingberg","year":"2012","unstructured":"Blechingberg, J., Luo, Y., Bolund, L., Damgaard, C. K. & Nielsen, A. L. Gene expression responses to FUS, EWS, and TAF15 reduction and stress granule sequestration analyses identifies FET-protein non-redundant functions. PLoS ONE 7, e46251 (2012).","journal-title":"PLoS ONE"},{"key":"BFnrneurol201478_CR164","doi-asserted-by":"crossref","first-page":"4348","DOI":"10.1111\/febs.12287","volume":"280","author":"E Bentmann","year":"2013","unstructured":"Bentmann, E., Haass, C. & Dormann, D. Stress granules in neurodegeneration\u2014lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma. FEBS J. 280, 4348\u20134370 (2013).","journal-title":"FEBS J."},{"key":"BFnrneurol201478_CR165","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/1750-1326-7-54","volume":"7","author":"A Aulas","year":"2012","unstructured":"Aulas, A., Stabile, S. & Vande Velde, C. Endogenous TDP-43, but not FUS, contributes to stress granule assembly via G3BP. Mol. Neurodegener. 7, 54 (2012).","journal-title":"Mol. Neurodegener."},{"key":"BFnrneurol201478_CR166","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1083\/jcb.201302044","volume":"201","author":"YR Li","year":"2013","unstructured":"Li, Y. R., King, O. D., Shorter, J. & Gitler, A. D. Stress granules as crucibles of ALS pathogenesis. J. Cell Biol. 201, 361\u2013372 (2013).","journal-title":"J. Cell Biol."},{"key":"BFnrneurol201478_CR167","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/s13238-011-1014-5","volume":"2","author":"K Fushimi","year":"2011","unstructured":"Fushimi, K. et al. Expression of human FUS\/TLS in yeast leads to protein aggregation and cytotoxicity, recapitulating key features of FUS proteinopathy. Protein Cell 2, 141\u2013149 (2011).","journal-title":"Protein Cell"},{"key":"BFnrneurol201478_CR168","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1326-8-30","volume":"8","author":"DM Baron","year":"2013","unstructured":"Baron, D. M. et al. Amyotrophic lateral sclerosis-linked FUS\/TLS alters stress granule assembly and dynamics. Mol. Neurodegener. 8, 30 (2013).","journal-title":"Mol. Neurodegener."},{"key":"BFnrneurol201478_CR169","doi-asserted-by":"crossref","first-page":"3194","DOI":"10.4161\/cc.26241","volume":"12","author":"TA Shelkovnikova","year":"2013","unstructured":"Shelkovnikova, T. A., Robinson, H., Connor-Robson, N. & Buchman, V. L. Recruitment into stress granules prevents irreversible aggregation of FUS protein mislocalized to the cytoplasm. Cell Cycle 12, 3194\u20133202 (2013).","journal-title":"Cell Cycle"},{"key":"BFnrneurol201478_CR170","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1242\/jcs.051672","volume":"123","author":"M Cushman","year":"2010","unstructured":"Cushman, M., Johnson, B. S., King, O. D., Gitler, A. D. & Shorter, J. Prion-like disorders: blurring the divide between transmissibility and infectivity. J. Cell Sci. 123, 1191\u20131201 (2010).","journal-title":"J. Cell Sci."},{"key":"BFnrneurol201478_CR171","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.brainres.2012.01.016","volume":"1462","author":"OD King","year":"2012","unstructured":"King, O. D., Gitler, A. D. & Shorter, J. The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease. Brain Res. 1462, 61\u201380 (2012).","journal-title":"Brain Res."},{"key":"BFnrneurol201478_CR172","doi-asserted-by":"crossref","first-page":"179","DOI":"10.4161\/pri.5.3.17230","volume":"5","author":"AD Gitler","year":"2011","unstructured":"Gitler, A. D. & Shorter, J. RNA-binding proteins with prion-like domains in ALS and FTLD-U. Prion 5, 179\u2013187 (2011).","journal-title":"Prion"},{"key":"BFnrneurol201478_CR173","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1016\/j.cell.2011.10.011","volume":"147","author":"M Polymenidou","year":"2011","unstructured":"Polymenidou, M. & Cleveland, D. W. The seeds of neurodegeneration: prion-like spreading in ALS. Cell 147, 498\u2013508 (2011).","journal-title":"Cell"},{"key":"BFnrneurol201478_CR174","doi-asserted-by":"crossref","first-page":"e1000614","DOI":"10.1371\/journal.pbio.1000614","volume":"9","author":"Z Sun","year":"2011","unstructured":"Sun, Z. et al. Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS\/TLS. PLoS Biol. 9, e1000614 (2011).","journal-title":"PLoS Biol."},{"key":"BFnrneurol201478_CR175","doi-asserted-by":"crossref","first-page":"e1001052","DOI":"10.1371\/journal.pbio.1001052","volume":"9","author":"S Ju","year":"2011","unstructured":"Ju, S. et al. A yeast model of FUS\/TLS-dependent cytotoxicity. PLoS Biol. 9, e1001052 (2011).","journal-title":"PLoS Biol."},{"key":"BFnrneurol201478_CR176","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1016\/j.cell.2012.04.016","volume":"149","author":"TW Han","year":"2012","unstructured":"Han, T. W. et al. Cell-free formation of RNA granules: bound RNAs identify features and components of cellular assemblies. Cell 149, 768\u2013779 (2012).","journal-title":"Cell"},{"key":"BFnrneurol201478_CR177","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1016\/j.celrep.2013.11.017","volume":"5","author":"JC Schwartz","year":"2013","unstructured":"Schwartz, J. C., Wang, X., Podell, E. R. & Cech, T. R. RNA seeds higher-order assembly of FUS protein. Cell Rep. 5, 918\u2013925 (2013).","journal-title":"Cell Rep."},{"key":"BFnrneurol201478_CR178","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1038\/nrn2786","volume":"11","author":"B Frost","year":"2010","unstructured":"Frost, B. & Diamond, M. I. Prion-like mechanisms in neurodegenerative diseases. Nat. Rev. Neurosci. 11, 155\u2013159 (2010).","journal-title":"Nat. Rev. Neurosci."},{"key":"BFnrneurol201478_CR179","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1038\/nsmb.2163","volume":"18","author":"JI Hoell","year":"2011","unstructured":"Hoell, J. I. et al. RNA targets of wild-type and mutant FET family proteins. Nat. Struct. Mol. Biol. 18, 1428\u20131431 (2011).","journal-title":"Nat. Struct. Mol. Biol."},{"key":"BFnrneurol201478_CR180","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1038\/nn.3230","volume":"15","author":"C Lagier-Tourenne","year":"2012","unstructured":"Lagier-Tourenne, C. et al. Divergent roles of ALS-linked proteins FUS\/TLS and TDP-43 intersect in processing long pre-mRNAs. Nat. Neurosci. 15, 1488\u20131497 (2012).","journal-title":"Nat. Neurosci."},{"key":"BFnrneurol201478_CR181","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1038\/srep00603","volume":"2","author":"B Rogelj","year":"2012","unstructured":"Rogelj, B. et al. Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain. Sci. Rep. 2, 603 (2012).","journal-title":"Sci. Rep."},{"key":"BFnrneurol201478_CR182","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1093\/hmg\/ddr448","volume":"21","author":"ML Tradewell","year":"2012","unstructured":"Tradewell, M. L. et al. Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS\/TLS harbouring ALS-linked mutations. Hum. Mol. Genet. 21, 136\u2013149 (2012).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR183","doi-asserted-by":"crossref","first-page":"e61576","DOI":"10.1371\/journal.pone.0061576","volume":"8","author":"C Scaramuzzino","year":"2013","unstructured":"Scaramuzzino, C. et al. Protein arginine methyltransferase 1 and 8 interact with FUS to modify its sub-cellular distribution and toxicity in vitro and in vivo. PLoS ONE 8, e61576 (2013).","journal-title":"PLoS ONE"},{"key":"BFnrneurol201478_CR184","doi-asserted-by":"crossref","first-page":"e49267","DOI":"10.1371\/journal.pone.0049267","volume":"7","author":"A Yamaguchi","year":"2012","unstructured":"Yamaguchi, A. & Kitajo, K. The effect of PRMT1-mediated arginine methylation on the subcellular localization, stress granules, and detergent-insoluble aggregates of FUS\/TLS. PLoS ONE 7, e49267 (2012).","journal-title":"PLoS ONE"},{"key":"BFnrneurol201478_CR185","doi-asserted-by":"crossref","first-page":"2222","DOI":"10.1002\/jcp.24395","volume":"228","author":"RR Sama","year":"2013","unstructured":"Sama, R. R. et al. FUS\/TLS assembles into stress granules and is a prosurvival factor during hyperosmolar stress. J. Cell. Physiol. 228, 2222\u20132231 (2013).","journal-title":"J. Cell. Physiol."},{"key":"BFnrneurol201478_CR186","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/1750-1326-7-10","volume":"7","author":"R Xia","year":"2012","unstructured":"Xia, R. et al. Motor neuron apoptosis and neuromuscular junction perturbation are prominent features in a Drosophila model of Fus-mediated ALS. Mol. Neurodegener. 7, 10 (2012).","journal-title":"Mol. Neurodegener."},{"key":"BFnrneurol201478_CR187","doi-asserted-by":"crossref","first-page":"e39483","DOI":"10.1371\/journal.pone.0039483","volume":"7","author":"H Sasayama","year":"2012","unstructured":"Sasayama, H. et al. Knockdown of the Drosophila fused in sarcoma (FUS) homologue causes deficient locomotive behavior and shortening of motoneuron terminal branches. PLoS ONE 7, e39483 (2012).","journal-title":"PLoS ONE"},{"key":"BFnrneurol201478_CR188","doi-asserted-by":"crossref","first-page":"4282","DOI":"10.1093\/hmg\/ddt278","volume":"22","author":"GA Armstrong","year":"2013","unstructured":"Armstrong, G. A. & Drapeau, P. Loss and gain of FUS function impair neuromuscular synaptic transmission in a genetic model of ALS. Hum. Mol. Genet. 22, 4282\u20134292 (2013).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR189","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s13238-011-1065-7","volume":"2","author":"Y Chen","year":"2011","unstructured":"Chen, Y. et al. Expression of human FUS protein in Drosophila leads to progressive neurodegeneration. Protein Cell 2, 477\u2013486 (2011).","journal-title":"Protein Cell"},{"key":"BFnrneurol201478_CR190","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/s00401-012-1043-z","volume":"125","author":"JC Mitchell","year":"2013","unstructured":"Mitchell, J. C. et al. Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion. Acta Neuropathol. 125, 273\u2013288 (2013).","journal-title":"Acta Neuropathol."},{"key":"BFnrneurol201478_CR191","doi-asserted-by":"crossref","first-page":"25266","DOI":"10.1074\/jbc.M113.492017","volume":"288","author":"TA Shelkovnikova","year":"2013","unstructured":"Shelkovnikova, T. A. et al. Fused in sarcoma (FUS) protein lacking nuclear localization signal (NLS) and major RNA binding motifs triggers proteinopathy and severe motor phenotype in transgenic mice. J. Biol. Chem. 288, 25266\u201325274 (2013).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol201478_CR192","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/hmg\/ddr417","volume":"21","author":"T Murakami","year":"2012","unstructured":"Murakami, T. et al. ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism. Hum. Mol. Genet. 21, 1\u20139 (2012).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR193","doi-asserted-by":"crossref","first-page":"e42117","DOI":"10.1371\/journal.pone.0042117","volume":"7","author":"A Vaccaro","year":"2012","unstructured":"Vaccaro, A. et al. Methylene blue protects against TDP-43 and FUS neuronal toxicity in C. elegans and D. rerio. PLoS ONE 7, e42117 (2012).","journal-title":"PLoS ONE"},{"key":"BFnrneurol201478_CR194","doi-asserted-by":"crossref","first-page":"e1002011","DOI":"10.1371\/journal.pgen.1002011","volume":"7","author":"C Huang","year":"2011","unstructured":"Huang, C. et al. FUS transgenic rats develop the phenotypes of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. PLoS Genet. 7, e1002011 (2011).","journal-title":"PLoS Genet."},{"key":"BFnrneurol201478_CR195","doi-asserted-by":"crossref","first-page":"4602","DOI":"10.1093\/hmg\/dds299","volume":"21","author":"C Huang","year":"2012","unstructured":"Huang, C. et al. Entorhinal cortical neurons are the primary targets of FUS mislocalization and ubiquitin aggregation in FUS transgenic rats. Hum. Mol. Genet. 21, 4602\u20134614 (2012).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol201478_CR196","doi-asserted-by":"crossref","first-page":"e31321","DOI":"10.1371\/journal.pone.0031321","volume":"7","author":"A Vaccaro","year":"2012","unstructured":"Vaccaro, A. et al. Mutant TDP-43 and FUS cause age-dependent paralysis and neurodegeneration in C. elegans. PLoS ONE 7, e31321 (2012).","journal-title":"PLoS ONE"},{"key":"BFnrneurol201478_CR197","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1186\/1750-1326-7-53","volume":"7","author":"C Verbeeck","year":"2012","unstructured":"Verbeeck, C. et al. Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis. Mol. Neurodegener. 7, 53 (2012).","journal-title":"Mol. Neurodegener."},{"key":"BFnrneurol201478_CR198","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1038\/nrneurol.2011.150","volume":"7","author":"PM Andersen","year":"2011","unstructured":"Andersen, P. M. & Al-Chalabi, A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat. Rev. Neurol. 7, 603\u2013615 (2011).","journal-title":"Nat. Rev. Neurol."},{"key":"BFnrneurol201478_CR199","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s00401-010-0698-6","volume":"120","author":"H Urwin","year":"2010","unstructured":"Urwin, H. et al. FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol. 120, 33\u201341 (2010).","journal-title":"Acta Neuropathol."},{"key":"BFnrneurol201478_CR200","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.cell.2010.03.032","volume":"141","author":"J McClellan","year":"2010","unstructured":"McClellan, J. & King, M. C. Genetic heterogeneity in human disease. Cell 141, 210\u2013217 (2010).","journal-title":"Cell"},{"key":"BFnrneurol201478_CR201","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/nrneurol.2012.26","volume":"8","author":"H Deng","year":"2012","unstructured":"Deng, H., Gao, K. & Jankovic, J. The genetics of Tourette syndrome. Nat. Rev. Neurol. 8, 203\u2013213 (2012).","journal-title":"Nat. Rev. Neurol."},{"key":"BFnrneurol201478_CR202","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1038\/nrn2935","volume":"11","author":"MR Cookson","year":"2010","unstructured":"Cookson, M. R. The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease. Nat. Rev. Neurosci. 11, 791\u2013797 (2010).","journal-title":"Nat. Rev. Neurosci."},{"key":"BFnrneurol201478_CR203","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1016\/j.conb.2011.05.029","volume":"21","author":"S Da Cruz","year":"2011","unstructured":"Da Cruz, S. & Cleveland, D. W. Understanding the role of TDP-43 and FUS\/TLS in ALS and beyond. Curr. Opin. Neurobiol. 21, 904\u2013919 (2011).","journal-title":"Curr. Opin. Neurobiol."},{"key":"BFnrneurol201478_CR204","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.brainres.2012.01.039","volume":"1462","author":"NA Lanson Jr","year":"2012","unstructured":"Lanson, N. A. Jr & Pandey, U. B. FUS-related proteinopathies: lessons from animal models. Brain Res. 1462, 44\u201360 (2012).","journal-title":"Brain Res."}],"container-title":["Nature Reviews Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nrneurol.2014.78.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrneurol.2014.78","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrneurol.2014.78.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T23:49:59Z","timestamp":1746229799000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nrneurol.2014.78"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,20]]},"references-count":204,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["BFnrneurol201478"],"URL":"https:\/\/doi.org\/10.1038\/nrneurol.2014.78","relation":{},"ISSN":["1759-4758","1759-4766"],"issn-type":[{"value":"1759-4758","type":"print"},{"value":"1759-4766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,20]]},"assertion":[{"value":"20 May 2014","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing financial interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}