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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 15, 2014 - Issue 7-8
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Research Articles

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

Louisa KentNuffield Department of Clinical Neurosciences, University of Oxford
,
Thomas N. VizardNuffield Department of Clinical Neurosciences, University of Oxford
,
Bradley N. SmithDepartment of Clinical Neuroscience, Kings College London, London, UK
,
Simon D. ToppDepartment of Clinical Neuroscience, Kings College London, London, UK
,
Caroline VanceDepartment of Clinical Neuroscience, Kings College London, London, UK
,
Athina GkaziDepartment of Clinical Neuroscience, Kings College London, London, UK
,
Jack MillerDepartment of Clinical Neuroscience, Kings College London, London, UK
,
Christopher E. ShawDepartment of Clinical Neuroscience, Kings College London, London, UK
&
Kevin TalbotNuffield Department of Clinical Neurosciences, University of Oxford
 show all
Pages 557-562 | Received 22 Mar 2014, Accepted 28 Apr 2014, Published online: 05 Jun 2014

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Vladimir N. Uversky. (2017) The roles of intrinsic disorder-based liquid-liquid phase transitions in the “Dr. Jekyll–Mr. Hyde” behavior of proteins involved in amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Autophagy 13:12, pages 2115-2162.
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Articles from other publishers (10)

Krishna Mohan Poluri, Khushboo Gulati, Deepak Kumar Tripathi & Nupur NagarKrishna Mohan Poluri, Khushboo Gulati, Deepak Kumar Tripathi & Nupur Nagar. 2023. Protein-Protein Interactions. Protein-Protein Interactions 101 169 .
Paola Lanteri, Irene Meola, Antonio Canosa, Giovanni De Marco, Annarosa Lomartire, Maria Teresa Rinaudo, Emilio Albamonte, Valeria Ada Sansone, Christian Lunetta, Umberto Manera, Rosario Vasta, Cristina Moglia, Andrea Calvo, Paola Origone, Adriano Chiò & Paola Mandich. (2021) The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment. Neurobiology of Aging 103, pages 130.e1-130.e7.
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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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Manuel Chiusa, Wen Hu, Jozef Zienkiewicz, Xiwu Chen, Ming-Zhi Zhang, Raymond C. Harris, Roberto M. Vanacore, Jennifer A. Bentz, Giuseppe Remuzzi, Ariela Benigni, Agnes B. Fogo, Wentian Luo, Stavroula Mili, Matthew H. Wilson, Roy Zent, Jacek Hawiger & Ambra Pozzi. (2020) EGF receptor–mediated FUS phosphorylation promotes its nuclear translocation and fibrotic signaling. Journal of Cell Biology 219:9.
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A. D. Efimova, R. K. Ovchinnikov, A. Yu. Roman, A. V. Maltsev, V. V. Grigoriev, E. A. Kovrazhkina & V. I. Skvortsova. (2017) The FUS protein: Physiological functions and a role in amyotrophic lateral sclerosis. Molecular Biology 51:3, pages 341-351.
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Duah Alkam, Ezra Z. Feldman, Awantika Singh & Mahmoud Kiaei. (2016) Profilin1 biology and its mutation, actin(g) in disease. Cellular and Molecular Life Sciences 74:6, pages 967-981.
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Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli & Michelle Farrar. (2017) Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy. Neural Plasticity 2017, pages 1-22.
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Matthew Nolan, Kevin Talbot & Olaf Ansorge. (2016) Pathogenesis of FUS-associated ALS and FTD: insights from rodent models. Acta Neuropathologica Communications 4:1.
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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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Tetsuro Murakami, Seema Qamar, Julie Qiaojin Lin, Gabriele S. Kaminski Schierle, Eric Rees, Akinori Miyashita, Ana R. Costa, Roger B. Dodd, Fiona T.S. Chan, Claire H. Michel, Deborah Kronenberg-Versteeg, Yi Li, Seung-Pil Yang, Yosuke Wakutani, William Meadows, Rodylyn Rose Ferry, Liang Dong, Gian Gaetano Tartaglia, Giorgio Favrin, Wen-Lang Lin, Dennis W. Dickson, Mei Zhen, David Ron, Gerold Schmitt-Ulms, Paul E. Fraser, Neil A. Shneider, Christine Holt, Michele Vendruscolo, Clemens F. Kaminski & Peter St George-Hyslop. (2015) ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function. Neuron 88:4, pages 678-690.
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