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Amyotrophic Lateral Sclerosis Volume 12, 2011 - Issue 3
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Research Article

A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling

Terrell Brotherton Department of Neurology, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia, USA
,
Meraida Polak Department of Neurology, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia, USA
,
Crystal Kelly Department of Neurology, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia, USA
,
Anna Birve Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden
,
Peter Andersen Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden
,
Stefan L. Marklund Department of Medical Biosciences, Umeå University, Umeå, Sweden
&
Jonathan D. Glass Department of Neurology, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia, USACorrespondence[email protected]
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Pages 215-219 | Received 20 Aug 2010, Accepted 07 Oct 2010, Published online: 12 Nov 2010

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WenChao Liu, XiaoGang Li, Yan Sun, XiaoTong Yu, Yan Wang, Na Liu & Min Deng. (2022) Genotype-phenotype correlations in a chinese population with familial amyotrophic lateral sclerosis. Neurological Research 44:3, pages 206-216.
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Isil Keskin, Anna Birve, Mariusz Berdynski, Karin Hjertkvist, Reza Rofougaran, Torbjörn K. Nilsson, Jonathan D. Glass, Stefan L. Marklund & Peter M. Andersen. (2017) Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 18:5-6, pages 457-463.
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Caroline Ingre, Anna Wuolikainen, Stefan L. Marklund, Anna Birve, Rayomand Press & Peter M. Andersen. (2016) A 50 bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 17:5-6, pages 452-457.
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Articles from other publishers (12)

Lu-Xi Chen, Hai-Feng Xu, Hui-Xia Lin, Xin-Xia Yang, Hong-Fu Li & Zhi-Ying Wu. (2023) Pathogenicity classification of SOD1 variants of uncertain significance by in vitro aggregation propensity. Neurobiology of Aging 123, pages 182-190.
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Claudia Ricci, Fabio Giannini, Giulia Riolo, Silvia Bocci, Stefania Casali & Stefania Battistini. (2021) A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation. Genes 12:10, pages 1544.
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Emilien Bernard, Antoine Pegat, Juliette Svahn, Françoise Bouhour, Pascal Leblanc, Stéphanie Millecamps, Stéphane Thobois, Claire Guissart, Serge Lumbroso & Kevin Mouzat. (2020) Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study. International Journal of Molecular Sciences 21:18, pages 6807.
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Itsuki Anzai, Eiichi Tokuda, Sumika Handa, Hidemi Misawa, Shuji Akiyama & Yoshiaki Furukawa. (2020) Oxidative misfolding of Cu/Zn-superoxide dismutase triggered by non-canonical intramolecular disulfide formation. Free Radical Biology and Medicine 147, pages 187-199.
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Jodie Stephenson & Sandra Amor. (2017) Modelling amyotrophic lateral sclerosis in mice. Drug Discovery Today: Disease Models 25-26, pages 35-44.
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Vincent Picher-Martel, Paul N. Valdmanis, Peter V. Gould, Jean-Pierre Julien & Nicolas Dupré. (2016) From animal models to human disease: a genetic approach for personalized medicine in ALS. Acta Neuropathologica Communications 4:1.
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Masayuki Mizuno, Yoshino Ueki, Keita Sakurai, Kenji Okita, Fumito Endo, Koji Yamanaka, Mitsuya Morita & Noriyuki Matsukawa. (2014) Case of familial amyotrophic lateral sclerosis showing gadolinium-enhanced cranial nerves on magnetic resonance imaging associated with rapid progression of facial nerve palsy. Neurology and Clinical Neuroscience 2:2, pages 54-56.
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Zhanjun Wang, Wanshi Cai, Fang Cui, Tao Cai, Zhaohui Chen, Fengbiao Mao, Huajing Teng, Lin Chen, Jiesi Wang, Zhongsheng Sun, Xusheng Huang & Ping Yu. (2014) Identification of a novel missense (C7W) mutation of SOD1 in a large familial amyotrophic lateral sclerosis pedigree. Neurobiology of Aging 35:3, pages 725.e11-725.e15.
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Lina Leinartaitė & Ann-Sofi Johansson. (2013) Disulfide Scrambling in Superoxide Dismutase 1 Reduces Its Cytotoxic Effect in Cultured Cells and Promotes Protein Aggregation. PLoS ONE 8:10, pages e78060.
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Sarah E. Antinone, Ghanashyam D. Ghadge, Tukiet T. Lam, Lijun Wang, Raymond P. Roos & William N. Green. (2013) Palmitoylation of Superoxide Dismutase 1 (SOD1) Is Increased for Familial Amyotrophic Lateral Sclerosis-linked SOD1 Mutants. Journal of Biological Chemistry 288:30, pages 21606-21617.
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Véronique V. Belzil & Guy A. Rouleau. (2014) SOD1 Mutations: More to Learn. Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 39:2, pages 132-133.
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Peter M. Andersen & Ammar Al-Chalabi. (2011) Clinical genetics of amyotrophic lateral sclerosis: what do we really know?. Nature Reviews Neurology 7:11, pages 603-615.
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