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A novel SOD mutant and ALS.

作者信息

Orrell R, de Belleroche J, Marklund S, Bowe F, Hallewell R

出版信息

Nature. 1995 Apr 6;374(6522):504-5. doi: 10.1038/374504a0.

DOI:10.1038/374504a0
PMID:7700376
Abstract
摘要

相似文献

1
A novel SOD mutant and ALS.一种新型超氧化物歧化酶突变体与肌萎缩侧索硬化症
Nature. 1995 Apr 6;374(6522):504-5. doi: 10.1038/374504a0.
2
[Amyotrophic lateral sclerosis and superoxide dismutase--a review].[肌萎缩侧索硬化症与超氧化物歧化酶——综述]
Ugeskr Laeger. 1997 Mar 10;159(11):1593-6.
3
Is ALS caused by an altered oxidative activity of mutant superoxide dismutase?肌萎缩侧索硬化症是由突变型超氧化物歧化酶的氧化活性改变引起的吗?
Nat Neurosci. 2002 Oct;5(10):919; author reply 919-20. doi: 10.1038/nn1002-919a.
4
Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis.
Hum Mutat. 1997;9(4):356-8. doi: 10.1002/(SICI)1098-1004(1997)9:4<356::AID-HUMU9>3.0.CO;2-3.
5
Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation.一个与新型铜/锌超氧化物歧化酶突变相关的肌萎缩侧索硬化症日本家族的发病年龄方差。
Ann Neurol. 1995 May;37(5):676-9. doi: 10.1002/ana.410370518.
6
A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China.一种在中国导致家族性肌萎缩侧索硬化症的罕见铜/锌超氧化物歧化酶突变,其发病年龄可变且外显不全。
Amyotroph Lateral Scler Other Motor Neuron Disord. 2005 Dec;6(4):234-8. doi: 10.1080/14660820510044478.
7
What have cellular models taught us about ALS?细胞模型让我们对肌萎缩侧索硬化症有了哪些了解?
Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Jun;3(2):55-6. doi: 10.1080/146608202760196002.
8
Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.铜/锌超氧化物歧化酶1与散发性肌萎缩侧索硬化症:155例分析及一种新插入突变的鉴定
Ann Neurol. 1997 Nov;42(5):803-7. doi: 10.1002/ana.410420518.
9
Identification of three mutations in the Cu,Zn-superoxide dismutase (Cu,Zn-SOD) gene with familial amyotrophic lateral sclerosis: transduction of human Cu,Zn-SOD into PC12 cells by HIV-1 TAT protein basic domain.家族性肌萎缩侧索硬化症中铜锌超氧化物歧化酶(Cu,Zn-SOD)基因三个突变的鉴定:通过HIV-1 TAT蛋白碱性结构域将人铜锌超氧化物歧化酶导入PC12细胞
Ann N Y Acad Sci. 2005 May;1042:303-13. doi: 10.1196/annals.1338.053.
10
[ALS models by transgenic animals].
No To Shinkei. 2001 Sep;53(9):799-807.

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Oxidative stress and superoxide dismutase in development, aging and gene regulation.发育、衰老及基因调控中的氧化应激与超氧化物歧化酶
Age (Omaha). 1998 Apr;21(2):47-76. doi: 10.1007/s11357-998-0007-7.
2
Two cases of dementias with motor neuron disease evaluated by Pittsburgh compound B-positron emission tomography.两例运动神经元病相关痴呆患者的匹兹堡化合物 B 正电子发射断层扫描评估。
Neurol Sci. 2012 Feb;33(1):87-92. doi: 10.1007/s10072-011-0479-6. Epub 2011 Feb 5.
3
Regulation of superoxide dismutase genes: implications in disease.超氧化物歧化酶基因的调控:在疾病中的意义。
Free Radic Biol Med. 2009 Aug 15;47(4):344-56. doi: 10.1016/j.freeradbiomed.2009.05.018. Epub 2009 May 25.
4
Oxidative stress mediates impairment of muscle function in transgenic mice with elevated level of wild-type Cu/Zn superoxide dismutase.氧化应激介导野生型铜锌超氧化物歧化酶水平升高的转基因小鼠肌肉功能受损。
Proc Natl Acad Sci U S A. 1997 Apr 15;94(8):3883-7. doi: 10.1073/pnas.94.8.3883.
5
Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features.肌萎缩侧索硬化症中铜/锌超氧化物歧化酶基因突变:基因型与临床特征的相关性
J Neurol Neurosurg Psychiatry. 1996 Dec;61(6):565-72. doi: 10.1136/jnnp.61.6.565.
6
Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice.
Proc Natl Acad Sci U S A. 1996 Sep 3;93(18):9782-7. doi: 10.1073/pnas.93.18.9782.
7
A gain-of-function of an amyotrophic lateral sclerosis-associated Cu,Zn-superoxide dismutase mutant: An enhancement of free radical formation due to a decrease in Km for hydrogen peroxide.一种与肌萎缩侧索硬化相关的铜锌超氧化物歧化酶突变体的功能获得:由于过氧化氢的米氏常数降低导致自由基形成增加。
Proc Natl Acad Sci U S A. 1996 Jun 11;93(12):5709-14. doi: 10.1073/pnas.93.12.5709.
8
Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments.家族性肌萎缩侧索硬化症/运动神经元病(FALS):当前进展综述
J Med Genet. 1995 Nov;32(11):841-7. doi: 10.1136/jmg.32.11.841.
9
Subunit-destabilizing mutations in Drosophila copper/zinc superoxide dismutase: neuropathology and a model of dimer dysequilibrium.果蝇铜/锌超氧化物歧化酶的亚基不稳定突变:神经病理学与二聚体失衡模型
Proc Natl Acad Sci U S A. 1995 Sep 12;92(19):8574-8. doi: 10.1073/pnas.92.19.8574.
10
Toxic mutants in Charcot's sclerosis.夏科氏硬化症中的毒性突变体。
Nature. 1995 Nov 23;378(6555):342-3. doi: 10.1038/378342a0.