A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis.
作者信息
Hayward C, Swingler R J, Simpson S A, Brock D J
出版信息
Am J Hum Genet. 1996 Nov;59(5):1165-7.
Abstract
摘要
相似文献
1
2
Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene.家族性肌萎缩侧索硬化症伴铜锌超氧化物歧化酶基因突变。
Acta Neuropathol. 1994;88(2):185-8. doi: 10.1007/BF00294513.
3
A mutation that creates a pseudoexon in SOD1 causes familial ALS.超氧化物歧化酶1（SOD1）基因中产生假外显子的突变会导致家族性肌萎缩侧索硬化症（ALS）。
Ann Hum Genet. 2009 Nov;73(Pt 6):652-7. doi: 10.1111/j.1469-1809.2009.00546.x.
4
Superoxide dismutase, oxygen radical metabolism, and amyotrophic lateral sclerosis.超氧化物歧化酶、氧自由基代谢与肌萎缩侧索硬化症
Mol Genet Med. 1994;4:79-118. doi: 10.1016/b978-0-12-462004-9.50007-4.
5
Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis.区分散发性肌萎缩侧索硬化症和家族性肌萎缩侧索硬化症的困难。
Ann Neurol. 1996 Jun;39(6):810-2. doi: 10.1002/ana.410390620.
6
Mutations in the copper- and zinc-containing superoxide dismutase gene are associated with "Lou Gehrig's disease".
Nutr Rev. 1993 Aug;51(8):243-5. doi: 10.1111/j.1753-4887.1993.tb03114.x.
7
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.散发性肌萎缩侧索硬化症患者中一种新的超氧化物歧化酶1基因第4外显子突变的鉴定。
Mol Cell Probes. 1994 Aug;8(4):329-30. doi: 10.1006/mcpr.1994.1046.
8
Genetics of amyotrophic lateral sclerosis.肌萎缩侧索硬化症的遗传学
J Neurol. 2000 Dec;247 Suppl 6:VI/2-6. doi: 10.1007/PL00007785.
9
Pathogenic mechanisms in familial amyotrophic lateral sclerosis due to mutation of Cu, Zn superoxide dismutase.由铜锌超氧化物歧化酶突变引起的家族性肌萎缩侧索硬化症的致病机制
Pathol Biol (Paris). 1996 Jan;44(1):51-6.
10
[Free radicals as a cause of amyotrophic lateral sclerosis?].[自由基是肌萎缩侧索硬化症的病因吗？]
Duodecim. 1993;109(12):1041-3.
引用本文的文献
1
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.苏格兰运动神经元病长生存者的基因型-表型特征。
J Neurol. 2023 Mar;270(3):1702-1712. doi: 10.1007/s00415-022-11505-0. Epub 2022 Dec 14.
2
High incidence of amyotrophic lateral sclerosis in the Faroe Islands 2010-2020.2010 年至 2020 年法罗群岛肌萎缩侧索硬化症发病率高。
Ann Clin Transl Neurol. 2022 Feb;9(2):227-231. doi: 10.1002/acn3.51501. Epub 2022 Jan 20.
3
Identity by descent analysis identifies founder events and links familial and sporadic ALS cases.同源性分析可识别奠基者事件，并将家族性和散发性肌萎缩侧索硬化症病例联系起来。
NPJ Genom Med. 2020 Aug 7;5:32. doi: 10.1038/s41525-020-00139-8. eCollection 2020.
4
Changing epidemiology of motor neurone disease in Scotland.苏格兰运动神经元疾病的流行病学变化。
J Neurol. 2019 Apr;266(4):817-825. doi: 10.1007/s00415-019-09190-7. Epub 2019 Feb 25.
5
Salivary biomarkers for the diagnosis and monitoring of neurological diseases.唾液生物标志物用于神经疾病的诊断和监测。
Biomed J. 2018 Apr;41(2):63-87. doi: 10.1016/j.bj.2018.03.004. Epub 2018 May 10.
6
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.苏格兰人群中运动神经元病相关变异的遗传流行病学。
Neurobiol Aging. 2017 Mar;51:178.e11-178.e20. doi: 10.1016/j.neurobiolaging.2016.12.013. Epub 2016 Dec 21.
7
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.
8
The incidence of motor nueron disease in Scotland.苏格兰运动神经元疾病的发病率。
J Neurol. 2007 Jul;254(7):866-9. doi: 10.1007/s00415-006-0454-y. Epub 2007 Apr 10.
本文引用的文献
1
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.铜锌超氧化物歧化酶基因突变与家族性肌萎缩侧索硬化症相关。
Nature. 1993 Mar 4;362(6415):59-62. doi: 10.1038/362059a0.
2
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.肌萎缩侧索硬化症与铜锌超氧化物歧化酶的结构缺陷
Science. 1993 Aug 20;261(5124):1047-51. doi: 10.1126/science.8351519.
3
Integration of gene maps: chromosome 21.基因图谱整合：21号染色体
Proc Natl Acad Sci U S A. 1993 Aug 1;90(15):7210-4. doi: 10.1073/pnas.90.15.7210.
4
Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis.铜/锌超氧化物歧化酶（SOD1）突变与散发性肌萎缩侧索硬化症
Lancet. 1993 Oct 23;342(8878):1050-1. doi: 10.1016/0140-6736(93)92905-9.
5
Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.在一名明显散发型肌萎缩侧索硬化症患者中鉴定出一种新的超氧化物歧化酶1（SOD1）突变，并在另外三名患者中检测到Ile113Thr突变。
Hum Mol Genet. 1994 Apr;3(4):649-50. doi: 10.1093/hmg/3.4.649.
6
7
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.散发性肌萎缩侧索硬化症患者中一种新的超氧化物歧化酶1基因第4外显子突变的鉴定。
Mol Cell Probes. 1994 Aug;8(4):329-30. doi: 10.1006/mcpr.1994.1046.
8
9
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.家族性肌萎缩侧索硬化症患者中的两种新型超氧化物歧化酶1（SOD1）突变
Hum Mol Genet. 1995 Jun;4(6):1113-6. doi: 10.1093/hmg/4.6.1113.
10
Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients.苏格兰肌萎缩侧索硬化症患者未选队列中的超氧化物歧化酶突变
J Med Genet. 1995 Apr;32(4):290-2. doi: 10.1136/jmg.32.4.290.
Zotero 插件