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Amyotrophic Lateral Sclerosis Volume 12, 2011 - Issue 2
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Research Article

FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population

Enrique Syriani Neurology Department, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR) Autonomous University of Barcelona, Barcelona; Structural Synaptic Plasticity Laboratory, CIBIR, Logroño, Spain
,
Miguel Morales Structural Synaptic Plasticity Laboratory, CIBIR, Logroño, Spain
&
Josep Gamez Neurology Department, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR) Autonomous University of Barcelona, BarcelonaCorrespondence[email protected]
Pages 118-123 | Received 25 Aug 2010, Accepted 06 Nov 2010, Published online: 06 Dec 2010

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Zhang-Yu Zou, Chun-Hui Che, Shu-Yan Feng, Xiu-Ying Fang, Hua-Pin Huang & Chang-Yun Liu. (2021) Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 22:1-2, pages 73-79.
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Elena V. Lysogorskaia, Nataliya Yu Abramycheva, Mariya N. Zakharova, Mariya S. Stepanova, Anna A. Moroz, Alexey V. Rossokhin & Sergey N. Illarioshkin. (2016) Genetic studies of Russian patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 17:1-2, pages 135-141.
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Articles from other publishers (20)

Jing Ma, Xiaomin Pang, Shan Huang, Jing Zhang, Juan Wang, Rongjuan Zhao, Xueli Chang, Junhong Guo & Wei Zhang. (2021) Genetic analysis in Chinese patients with familial or young-onset amyotrophic lateral sclerosis. Neurological Sciences 43:4, pages 2579-2587.
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Alexandra Arenas, Jing Chen, Lisha Kuang, Kelly R Barnett, Edward J Kasarskis, Jozsef Gal & Haining Zhu. (2020) Lysine acetylation regulates the RNA binding, subcellular localization and inclusion formation of FUS. Human Molecular Genetics 29:16, pages 2684-2697.
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Chen Chen, Xiufang Ding, Nimrah Akram, Song Xue & Shi-Zhong Luo. (2019) Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases. Molecules 24:8, pages 1622.
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Daniela Recabarren-Leiva & Marcelo Alarcón. (2018) New insights into the gene expression associated to amyotrophic lateral sclerosis. Life Sciences 193, pages 110-123.
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Lihua Hou, Bin Jiao, Tingting Xiao, Lu Zhou, Zhifan Zhou, Juan Du, Xinxiang Yan, Junling Wang, Beisha Tang & Lu Shen. (2016) Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China. Scientific Reports 6:1.
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Tetsuya Akiyama, Hitoshi Warita, Masaaki Kato, Ayumi Nishiyama, Rumiko Izumi, Chikako Ikeda, Masaki Kamada, Naoki Suzuki & Masashi Aoki. (2016) Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan . Muscle & Nerve 54:3, pages 398-404.
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Andrew King, Claire Troakes, Bradley Smith, Matthew Nolan, Olimpia Curran, Caroline Vance, Christopher E. Shaw & Safa Al-Sarraj. (2015) ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation. Acta Neuropathologica Communications 3:1.
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Annemarie Hübers, Walter Just, Angela Rosenbohm, Kathrin Müller, Nicolai Marroquin, Ingrid Goebel, Josef Högel, Holger Thiele, Janine Altmüller, Peter Nürnberg, Jochen H. Weishaupt, Christian Kubisch, Albert C. Ludolph & Alexander E. Volk. (2015) De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. Neurobiology of Aging 36:11, pages 3117.e1-3117.e6.
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Enrique Syriani, Candi Salvans, Maria Salvadó, Miguel Morales, Laura Lorenzo, Sonia Cazorla & Josep Gamez. (2014) PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis. Journal of Neurology 261:12, pages 2387-2392.
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Yoko Mochizuki, Akihiro Kawata, Hirofumi Maruyama, Taku Homma, Kazuhiko Watabe, Hideshi Kawakami, Takashi Komori, Toshio Mizutani & Shiro Matsubara. (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, pages 504-509.
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Hao Deng, Kai Gao & Joseph Jankovic. (2014) The role of FUS gene variants in neurodegenerative diseases. Nature Reviews Neurology 10:6, pages 337-348.
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Serena Lattante, Guy A. Rouleau & Edor Kabashi. (2013) TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update . Human Mutation 34:6, pages 812-826.
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Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou & Xun-Zhe Yang. (2013) De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. Neurobiology of Aging 34:4, pages 1312.e1-1312.e8.
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S. Waibel, M. Neumann, A. Rosenbohm, A. Birve, A. E. Volk, J. H. Weishaupt, T. Meyer, U. Müller, P. M. Andersen & A. C. Ludolph. (2012) Truncating mutations in FUS / TLS give rise to a more aggressive ALS ‐phenotype than missense mutations: a clinico‐genetic study in G ermany . European Journal of Neurology 20:3, pages 540-546.
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Marka van Blitterswijk, Michael A. van Es, Eric A.M. Hennekam, Dennis Dooijes, Wouter van Rheenen, Jelena Medic, Pierre R. Bourque, Helenius J. Schelhaas, Anneke J. van der Kooi, Marianne de Visser, Paul I.W. de Bakker, Jan H. Veldink & Leonard H. van den Berg. (2012) Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Human Molecular Genetics 21:17, pages 3776-3784.
Crossref
Zhang-Yu Zou, Yu Peng, Xin-Ning Wang, Ming-Sheng Liu, Xiao-Guang Li & Li-Ying Cui. (2012) Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin. Neurobiology of Aging 33:9, pages 2229.e11-2229.e18.
Crossref
Z.‐Y. Zou, Y. Peng, X.‐H. Feng, X.‐N. Wang, Q. Sun, M.‐S. Liu, X.‐G. Li & L.‐Y. Cui. (2012) Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin . European Journal of Neurology 19:7, pages 977-983.
Crossref
Nicholas A. LansonJr.Jr. & Udai Bhan Pandey. (2012) FUS-related proteinopathies: Lessons from animal models. Brain Research 1462, pages 44-60.
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Maarten Schrooten, Wim Robberecht & Philip Van Damme. (2012) From El Escorial to Awaji: where do we go next with the amyotrophic lateral sclerosis criteria?. Neurodegenerative Disease Management 2:1, pages 135-140.
Crossref
Yanbo Chen, Mengxue Yang, Jianwen Deng, Xiaoping Chen, Ye Ye, Li Zhu, Jianghong Liu, Haihong Ye, Yan Shen, Yan Li, Elizabeth J. Rao, Kazuo Fushimi, Xiaohong Zhou, Eileen H. Bigio, Marsel Mesulam, Qi Xu & Jane Y. Wu. (2011) Expression of human FUS protein in Drosophila leads to progressive neurodegeneration. Protein & Cell 2:6, pages 477-486.
Crossref

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