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Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders Volume 1, 2000 - Issue 4
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Research Article

Frameshift, nonsense and non amino acid altering mutations in SOD1 in familial ALS: report of a Japanese pedigree and literature review

Yasuhiro Watanabe Division of Neurology, Institute of Neurological Sciences, Tottori University, Yonago, Japan
,
Shinsuke Kato Division of Neuropathology, Institute of Neurological Sciences, Tottori University, Yonago, Japan
,
Yoshiki Adachi Division of Neurology, Institute of Neurological Sciences, Tottori University, Yonago, Japan
&
Kenji Nakashima Division of Neurology, Institute of Neurological Sciences, Tottori University, Yonago, Japan
Pages 251-258 | Published online: 10 Jul 2009

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Abhishek Vats, Mandaville Gourie-Devi, Meenakshi Verma, Srinivasan Ramachandran, Bhupesh Taneja, Ritushree Kukreti & Vibha Taneja. (2016) Identification of L84F mutation with a novel nucleotide change c.255G > T in the superoxide dismutase gene in a North Indian family with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 17:3-4, pages 253-259.
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N. T. T. Thuong, S. J. Dunstan, N. M. Dung, J.-P. Charlieu, H. T. Loan, B. Wills, T. Solomon & J. J. Farrar. (2006) Polymorphisms of the gene coding for copper/zinc superoxide dismutase (SOD1) in patients with Japanese encephalitis. Annals of Tropical Medicine & Parasitology 100:7, pages 631-636.
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Articles from other publishers (10)

Cecilia Garcia, Jose Manuel Vidal-Taboada, Enrique Syriani, Maria Salvado, Miguel Morales & Josep Gamez. (2019) Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder?. Frontiers in Genetics 10.
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Jisen Huai & Zhongjian Zhang. (2019) Structural Properties and Interaction Partners of Familial ALS-Associated SOD1 Mutants. Frontiers in Neurology 10.
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Antonio Canosa, Giovanni De Marco, Annarosa Lomartire, Maria Teresa Rinaudo, Ferdinando Di Cunto, Emilia Turco, Marco Barberis, Maura Brunetti, Federico Casale, Cristina Moglia, Andrea Calvo, Stefan L. Marklund, Peter M. Andersen, Gabriele Mora & Adriano Chiò. (2018) A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms. Neurobiology of Aging 72, pages 189.e11-189.e17.
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Brigitte LeBoeuf & L Rene Garcia. (2012) Cell Excitability Necessary for Male Mating Behavior in Caenorhabditis elegans Is Coordinated by Interactions Between Big Current and Ether-A-Go-Go Family K+ Channels . Genetics 190:3, pages 1025-1041.
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Enrique Syriani, Miguel Morales & Josep Gamez. (2009) The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time. Journal of the Neurological Sciences 285:1-2, pages 46-53.
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Yasuhiro Watanabe, Eri Morita, Yasuyo Fukada, Koji Doi, Kenichi Yasui, Michio Kitayama, Toshiya Nakano & Kenji Nakashima. (2008) Adherent Monomer-Misfolded SOD1. PLoS ONE 3:10, pages e3497.
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Yasuyo Fukada, Kenichi Yasui, Michio Kitayama, Koji Doi, Toshiya Nakano, Yasuhiro Watanabe & Kenji Nakashima. (2007) Gene expression analysis of the murine model of amyotrophic lateral sclerosis: Studies of the Leu126delTT mutation in SOD1. Brain Research 1160, pages 1-10.
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Yasuhiro Watanabe, Kenichi Yasui, Toshiya Nakano, Koji Doi, Yasuyo Fukada, Michio Kitayama, Miho Ishimoto, Saiko Kurihara, Mika Kawashima, Hiroki Fukuda, Yoshiki Adachi, Takao Inoue & Kenji Nakashima. (2005) Mouse motor neuron disease caused by truncated SOD1 with or without C-terminal modification. Molecular Brain Research 135:1-2, pages 12-20.
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Gisela Nogales-Gadea, Elena Garcia-Arumi, Antonio L. Andreu, Carlos Cervera & Josep Gamez. (2004) A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance. Journal of the Neurological Sciences 219:1-2, pages 1-6.
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Yasuhiro Watanabe, Yoshiki Adachi & Kenji Nakashima. (2001) Japanese familial amyotrophic lateral sclerosis family with a two-base deletion in the superoxide dismutase-1 gene. Neuropathology 21:1, pages 61-66.
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