Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, Mann D, Tsuchiya K, Yoshida M, Hashizume Y, Oda T (2006) TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 351:602–611
Article
CAS
PubMed
Google Scholar
Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, Bruce J, Schuck T, Grossman M, Clark CM, McCluskey LF, Miller BL, Masliah E, Mackenzie IR, Feldman H, Feiden W, Kretzschmar HA, Trojanowski JQ, Lee VM (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314:130–133
Article
CAS
PubMed
Google Scholar
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323(5918):1205–1208
Article
CAS
PubMed
Google Scholar
Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323:1208–1211
Article
PubMed Central
CAS
PubMed
Google Scholar
Ticozzi N, Silani V, Leclerc AL, Keagle P, Gellera C, Ratti A, Taroni F, Kwiatkowski TJ Jr, McKenna-Yasek DM, Sapp PC, Brown RH Jr, Landers JE (2009) Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort. Neurology 73(15):1180–1185
Article
PubMed Central
CAS
PubMed
Google Scholar
Vance C, Scotter EL, Nishimura AL, Troakes C, Mitchell JC, Kathe C, Urwin H, Manser C, Miller CC, Hortobagyi T, Dragunow M, Rogelj B, Shaw CE (2013) ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules. Hum Mol Genet 22(13):2676–2688
Article
PubMed Central
CAS
PubMed
Google Scholar
Yan J, Deng HX, Siddique N, Fecto F, Chen W, Yang Y, Liu E, Donkervoort S, Zheng JG, Shi Y, Ahmeti KB, Brooks B, Engel WK, Siddique T (2010) Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology 75(9):807–814
Article
PubMed Central
CAS
PubMed
Google Scholar
Baumer D, Hilton D, Paine SM, Turner MR, Lowe J, Talbot K, Ansorge O (2010) Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology 75(7):611–618
Article
PubMed Central
CAS
PubMed
Google Scholar
Hewitt C, Kirby J, Highley JR, Hartley JA, Hibberd R, Hollinger HC, Williams TL, Ince PG, McDermott CJ, Shaw PJ (2010) Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol 67(4):455–461
Article
PubMed
Google Scholar
Mackenzie IR, Ansorge O, Strong M, Bilbao J, Zinman L, Ang LC, Baker M, Stewart H, Eisen A, Rademakers R, Neumann M (2011) Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation. Acta Neuropathol 122(1):87–98
Article
PubMed Central
PubMed
Google Scholar
Rademakers R, Stewart H, Dejesus-Hernandez M, Krieger C, Graff-Radford N, Fabros M, Briemberg H, Cashman N, Eisen A, Mackenzie IR (2010) Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis. Muscle Nerve 42(2):170–176
Article
PubMed Central
CAS
PubMed
Google Scholar
Robertson J, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E (2011) A novel double mutation in FUS gene causing sporadic ALS. Neurobiol Aging 32(3):553.e27-30
Article
PubMed
Google Scholar
Neumann M, Valori CF, Ansorge O, Kretzschmar HA, Munoz DG, Kusaka H, Yokota O, Ishihara K, Ang LC, Bilbao JM, Mackenzie IR (2012) Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations. Acta Neuropathol 124(5):705–716
Article
CAS
PubMed
Google Scholar
Ravenscroft TA, Baker MC, Rutherford NJ, Neumann M, Mackenzie IR, Josephs KA, Boeve BF, Petersen R, Halliday GM, Kril J, van Swieten JC, Seeley WW, Dickson DW, Rademakers R (2013) Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS. Neurobiol Aging 34(9):2235.e11-3
Article
PubMed
Google Scholar
Troakes C, Hortobagyi T, Vance C, Al-Sarraj S, Rogelj B, Shaw CE (2013) 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(5):553–561
Article
CAS
PubMed
Google Scholar
Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Muller U, Andersen PM, Ludolph AC (2013) Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany. Eur J Neurol 20(3):540–546
Article
CAS
PubMed
Google Scholar
Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobagyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van DP, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE (2013) The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet 21(1):102–108
Article
PubMed Central
CAS
PubMed
Google Scholar
Daoud H, Valdmanis PN, Kabashi E, Dion P, Dupre N, Camu W, Meininger V, Rouleau GA (2009) Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. J Med Genet 46(2):112–114
Article
CAS
PubMed
Google Scholar
Daigle JG, Lanson NA Jr, Smith RB, Casci I, Maltare A, Monaghan J, Nichols CD, Kryndushkin D, Shewmaker F, Pandey UB (2013) 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(6):1193–1205
Article
PubMed Central
CAS
PubMed
Google Scholar
Scaramuzzino C, Monaghan J, Milioto C, Lanson NA Jr, Maltare A, Aggarwal T, Casci I, Fackelmayer FO, Pennuto M, Pandey UB (2013) 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(4):e61576
Article
PubMed Central
CAS
PubMed
Google Scholar
Brelstaff J, Lashley T, Holton JL, Lees AJ, Rossor MN, Bandopadhyay R, Revesz T (2011) Transportin1: a marker of FTLD-FUS. Acta Neuropathol 122(5):591–600
Article
CAS
PubMed
Google Scholar
Dormann D, Madl T, Valori CF, Bentmann E, Tahirovic S, Abou-Ajram C, Kremmer E, Ansorge O, Mackenzie IR, Neumann M, Haass C (2012) Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS. EMBO J 31(22):4258–4275
Article
PubMed Central
CAS
PubMed
Google Scholar
Tibshirani M, Tradewell ML, Mattina KR, Minotti S, Yang W, Zhou H, Strong MJ, Hayward LJ, Durham HD (2015) Cytoplasmic sequestration of FUS/TLS associated with ALS alters histone marks through loss of nuclear protein arginine methyltransferase 1. Hum Mol Genet 24(3):773–786
Article
CAS
PubMed
Google Scholar
Kamaraj B, Rajendran V, Sethumadhavan R, Kumar CV, Purohit R (2015) Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6. J Biomol Struct Dyn 33(4): 834-844
Corrado L, Del BR, Castellotti B, Ratti A, Cereda C, Penco S, Soraru G, Carlomagno Y, Ghezzi S, Pensato V, Colombrita C, Gagliardi S, Cozzi L, Orsetti V, Mancuso M, Siciliano G, Mazzini L, Comi GP, Gellera C, Ceroni M, D’Alfonso S, Silani V (2010) Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J Med Genet 47(3):190–194
Article
CAS
PubMed
Google Scholar
Riku Y, Atsuta N, Yoshida M, Tatsumi S, Iwasaki Y, Mimuro M, Watanabe H, Ito M, Senda J, Nakamura R, Koike H, Sobue G (2014) Differential motor neuron involvement in progressive muscular atrophy: a comparative study with amyotrophic lateral sclerosis. BMJ Open 4(5):e005213
Article
PubMed Central
PubMed
Google Scholar
Mochizuki Y, Kawata A, Maruyama H, Homma T, Watabe K, Kawakami H, Komori T, Mizutani T, Matsubara S (2014) A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state. Neuropathology 34(5):504–509
Article
CAS
PubMed
Google Scholar
Tateishi T, Hokonohara T, Yamasaki R, Miura S, Kikuchi H, Iwaki A, Tashiro H, Furuya H, Nagara Y, Ohyagi Y, Nukina N, Iwaki T, Fukumaki Y, Kira JI (2010) Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation. Acta Neuropathol 119:355–364
Article
PubMed
Google Scholar
Mitchell JC, McGoldrick P, Vance C, Hortobagyi T, Sreedharan J, Rogelj B, Tudor EL, Smith BN, Klasen C, Miller CC, Cooper JD, Greensmith L, Shaw CE (2013) Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion. Acta Neuropathol 125(2):273–288
Article
PubMed Central
CAS
PubMed
Google Scholar
Homma T, Nagaoka U, Kawata A, Mochizuki Y, Kawakami H, Maruyama H, Matsubara S, Komori T (2014) Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP. Neuropathol Appl Neurobiol 40(2):231–236
Article
CAS
PubMed
Google Scholar
Tsao W, Jeong YH, Lin S, Ling J, Price DL, Chiang PM, Wong PC (2012) Rodent models of TDP-43: recent advances. Brain Res 1462:26–39
Article
PubMed Central
CAS
PubMed
Google Scholar
Wu LS, Cheng WC, Shen CK (2012) Targeted depletion of TDP-43 expression in the spinal cord motor neurons leads to the development of amyotrophic lateral sclerosis-like phenotypes in mice. J Biol Chem 287(33):27335–27344
Article
PubMed Central
CAS
PubMed
Google Scholar
Xu YF, Zhang YJ, Lin WL, Cao X, Stetler C, Dickson DW, Lewis J, Petrucelli L (2011) Expression of mutant TDP-43 induces neuronal dysfunction in transgenic mice. Mol Neurodegener 6:73–76
Article
PubMed Central
CAS
PubMed
Google Scholar
Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobagyi T, Shaw CE (2011) p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol 122:691–702
Article
CAS
PubMed
Google Scholar
Gendron TF, Belzil VV, Zhang YJ, Petrucelli L (2014) Mechanisms of toxicity in C9FTLD/ALS. Acta Neuropathol 127(3):359–376
Article
PubMed Central
CAS
PubMed
Google Scholar
Yamakawa M, Ito D, Honda T, Kubo K, Noda M, Nakajima K, Suzuki N (2015) Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS. Hum Mol Genet 24(6):1630–1645
Article
CAS
PubMed
Google Scholar
Teyssou E, Takeda T, Lebon V, Boillee S, Doukoure B, Bataillon G, Sazdovitch V, Cazeneuve C, Meininger V, LeGuern E, Salachas F, Seilhean D, Millecamps S (2013) Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. Acta Neuropathol 125(4):511–522
Article
CAS
PubMed
Google Scholar
Syriani E, Morales M, Gamez J (2011) FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population. Amyotroph Lateral Scler 12(2):118–123
Article
CAS
PubMed
Google Scholar