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

Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis

Veronique V. Belzil Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Centre, Montreal, Quebec
,
Hussein Daoud Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Centre, Montreal, Quebec
,
Judith St-Onge Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Centre, Montreal, Quebec
,
Anne Desjarlais Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Centre, Montreal, Quebec
,
Jean-Pierre Bouchard Université Laval, Faculty of Medicine, Centre Hospitalier Affilié Universitaire de Québec Enfant-Jésus Hospital, Quebec, Canada
,
Nicolas Dupre Université Laval, Faculty of Medicine, Centre Hospitalier Affilié Universitaire de Québec Enfant-Jésus Hospital, Quebec, Canada
,
Lucette Lacomblez Fédération des Maladies du Système Nerveux, Division Paul Castaigne, Hôpital de la Salpêtrière, Paris
,
François Salachas Fédération des Maladies du Système Nerveux, Division Paul Castaigne, Hôpital de la Salpêtrière, Paris
,
Pierre-François Pradat Fédération des Maladies du Système Nerveux, Division Paul Castaigne, Hôpital de la Salpêtrière, Paris
,
Vincent Meininger Fédération des Maladies du Système Nerveux, Division Paul Castaigne, Hôpital de la Salpêtrière, Paris
,
William Camu ALS Centre, Department of Neurology, CHU Gui de Chauliac, Montpellier, France
,
Patrick A. Dion Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Centre, Montreal, Quebec; Faculty of Medicine, Department of Pathology and Cellular Biology, Université de Montréal, Montreal, Quebec
&
Guy A. Rouleau Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Centre, Montreal, Quebec; Faculty of Medicine, Department of Medicine, Université de Montreal, Montreal, Quebec; Research Centre, CHU Sainte-Justine, Montreal, Quebec, CanadaCorrespondence[email protected]
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Pages 113-117 | Received 08 Sep 2010, Accepted 28 Oct 2010, Published online: 24 Jan 2011

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Philippe Corcia, Patrick Vourc’h, Helene Blasco, Philippe Couratier, Audrey Dangoumau, Remi Bellance, Claude Desnuelle, Fausto Viader, Vivien Pautot, Stephanie Millecamps, Salah Bakkouche, FranÇois Salachas, Christian R. Andres, Vincent Meininger & William Camu. (2018) Phenotypic and genotypic studies of ALS cases in ALS-SMA families. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 19:5-6, pages 432-437.
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Rayapadi G. Swetha, Sudha Ramaiah & Anand Anbarasu. (2017) R521C and R521H mutations in FUS result in weak binding with Karyopherinβ2 leading to Amyotrophic lateral sclerosis: a molecular docking and dynamics study. Journal of Biomolecular Structure and Dynamics 35:10, pages 2169-2185.
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Zhang-Yu Zou, Ming-Sheng Liu, Xiao-Guang Li & Li-Ying Cui. (2016) Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 17:3-4, pages 249-252.
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Paola Origone, Claudia Caponnetto, Vittorio Mantero, Elena Cichero, Paola Fossa, Alessandro Geroldi, Simonetta Verdiani, Emilia Bellone, Gianluigi Mancardi & Paola Mandich. (2012) Fast course ALS presenting with vocal cord paralysis: Clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. Amyotrophic Lateral Sclerosis 13:1, pages 144-148.
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Articles from other publishers (22)

Haiyan An, Camille Rabesahala de Meritens, Vladimir L. Buchman & Tatyana A. Shelkovnikova. (2020) Frameshift peptides alter the properties of truncated FUS proteins in ALS-FUS. Molecular Brain 13:1.
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Yalda Baradaran-Heravi, Christine Van Broeckhoven & Julie van der Zee. (2020) Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum. Neurobiology of Disease 134, pages 104639.
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Jone López-Erauskin, Takahiro Tadokoro, Michael W. Baughn, Brian Myers, Melissa McAlonis-Downes, Carlos Chillon-Marinas, Joshua N. Asiaban, Jonathan Artates, Anh T. Bui, Anne P. Vetto, Sandra K. Lee, Ai Vy Le, Ying Sun, Mélanie Jambeau, Jihane Boubaker, Deborah Swing, Jinsong Qiu, Geoffrey G. Hicks, Zhengyu Ouyang, Xiang-Dong Fu, Lino Tessarollo, Shuo-Chien Ling, Philippe A. Parone, Christopher E. Shaw, Martin Marsala, Clotilde Lagier-Tourenne, Don W. Cleveland & Sandrine Da Cruz. (2018) ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS. Neuron 100:4, pages 816-830.e7.
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Z.-J. Liu, H.-X. Lin, G.-L. Liu, Q.-Q. Tao, W. Ni, B.-G. Xiao & Z.-Y. Wu. (2017) The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis. Clinical Genetics 92:3, pages 267-273.
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Alice Ford HarrisonJames Shorter. (2017) RNA-binding proteins with prion-like domains in health and disease. Biochemical Journal 474:8, pages 1417-1438.
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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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Sonika Agarwal, Lorraine Potocki, Talia R. Collier, Suzanne L. Woodbury, Adekunle M. Adesina, Jeremy Jones & Timothy E. Lotze. (2016) Utility of whole exome sequencing in evaluation of juvenile motor neuron disease. Muscle & Nerve 53:4, pages 648-652.
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Kimitoshi Hirayanagi, Masayuki Sato, Natsumi Furuta, Kouki Makioka & Yoshio Ikeda. (2016) Juvenile-onset Sporadic Amyotrophic Lateral Sclerosis with a Frameshift <i>FUS</i> Gene Mutation Presenting Unique Neuroradiological Findings and Cognitive Impairment. Internal Medicine 55:6, pages 689-693.
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C. Tarlarini, C. Lunetta, L. Mosca, F. Avemaria, N. Riva, V. Mantero, E. Maestri, A. Quattrini, M. Corbo, M. G. Melazzini & S. Penco. (2015) Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis. European Journal of Neurology 22:11, pages 1474-1481.
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Aslıhan Özoğuz, Özgün Uyan, Güneş Birdal, Ceren Iskender, Ece Kartal, Suna Lahut, Özgür Ömür, Zeynep Sena Agim, Aslı Gündoğdu Eken, Nesli Ece Sen, Pınar Kavak, Ceren Saygı, Peter C. Sapp, Pamela Keagle, Yeşim Parman, Ersin Tan, Filiz Koç, Feza Deymeer, Piraye Oflazer, Haşmet Hanağası, Hakan Gürvit, Başar Bilgiç, Hacer Durmuş, Mustafa Ertaş, Dilcan Kotan, Mehmet Ali Akalın, Halil Güllüoğlu, Mehmet Zarifoğlu, Fikret Aysal, Nilgün Döşoğlu, Kaya Bilguvar, Murat Günel, Özlem Keskin, Tahsin Akgün, Hilmi Özçelik, John E. Landers, Robert H. Brown & A. Nazlı Başak. (2015) The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiology of Aging 36:4, pages 1764.e9-1764.e18.
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Jean-François Schmouth, Patrick A. Dion & Guy A. Rouleau. (2014) Genetics of essential tremor: From phenotype to genes, insights from both human and mouse studies. Progress in Neurobiology 119-120, pages 1-19.
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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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Kai Gao, Wen Zheng, Xiong Deng, Wei Xiong, Zhi Song, Yan Yang & Hao Deng. (2014) Genetic analysis of the fused in sarcoma gene in Chinese Han patients with Parkinson's disease. Parkinsonism & Related Disorders 20:1, pages 119-121.
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Caroline Vance, Emma L. Scotter, Agnes L. Nishimura, Claire Troakes, Jacqueline C. Mitchell, Claudia Kathe, Hazel Urwin, Catherine Manser, Christopher C. Miller, Tibor Hortobágyi, Mike Dragunow, Boris Rogelj & Christopher E. Shaw. (2013) ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules. Human Molecular Genetics 22:13, pages 2676-2688.
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M Sabatelli, A Conte & M Zollino. (2013) Clinical and genetic heterogeneity of amyotrophic lateral sclerosis. Clinical Genetics 83:5, pages 408-416.
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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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Arnaud Tauffenberger, Alexandra Vaccaro, Anais Aulas, Christine Vande Velde & J. Alex Parker. (2012) Glucose delays age‐dependent proteotoxicity. Aging Cell 11:5, pages 856-866.
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Nancy D. Merner, Simon L. Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique V. Belzil, Jean-Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne-Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion & Guy A. Rouleau. (2012) Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor. The American Journal of Human Genetics 91:2, pages 313-319.
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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.
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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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F. Geser, D. Prvulovic, L. O’Dwyer, O. Hardiman, P. Bede, A.L.W. Bokde, J.Q. Trojanowski & H. Hampel. (2011) On the development of markers for pathological TDP-43 in amyotrophic lateral sclerosis with and without dementia. Progress in Neurobiology 95:4, pages 649-662.
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