Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations.

Orrell RW

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Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations.

机译：肌萎缩性侧索硬化：铜/锌超氧化物歧化酶（SOD1）基因突变。

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Mutations of the SOD1 gene, encoding the enzyme copper/zinc superoxide dismutase, have been identified in around 20% of patients with familial amyotrophic lateral sclerosis (ALS), and also in patients with apparently sporadic ALS. The table documents the mutations identified and published to date, and references clinical and pathological descriptions of the patients and families with individual mutations. The table includes 63 different mutations of SOD1 at 43 codons, three intronic sites, and two in the 3' untranslated region. Most of the mutations are heterozygotes, with autosomal dominant inheritance, but a small number of individuals appear to be sporadic, or are homozygotes with autosomal dominant recessive inheritance.

机译：已经在大约20％的家族性肌萎缩性侧索硬化症（ALS）患者以及明显零星的ALS患者中发现了编码铜/锌超氧化物歧化酶酶的SOD1基因突变。该表记录了迄今已鉴定并发布的突变，并参考了具有个别突变的患者和家属的临床和病理学描述。该表包括在43个密码子，三个内含子位点和两个3'非翻译区中的63个不同的SOD1突变。大多数突变是具有常染色体显性遗传的杂合子，但少数个体似乎是零星的，或者是具有常染色体显性隐性遗传的纯合子。

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《Neuromuscular disorders: NMD》 |2000年第1期|共6页
作者
Orrell RW;
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正文语种 eng
中图分类神经病学与精神病学;
关键词
Amyotrophic Lateral Sclerosis; Mutation; Superoxide Dismutase; superoxide dismutase-1; 肌萎缩侧索硬化; 突变; 超氧化物歧化酶;

机译：Amyotrophic Lateral Sclerosis;Mutation;Superoxide Dismutase;superoxide dismutase-1;肌萎缩侧索硬化;突变;超氧化物歧化酶;

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专利

1. Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations. [J] . Orrell RW Neuromuscular disorders: NMD . 2000,第1期

机译：肌萎缩性侧索硬化：铜/锌超氧化物歧化酶（SOD1）基因突变。
2. New mutation in the SOD1 (copper/zinc superoxide dismutase-1) gene in a Chinese amyotrophic lateral sclerosis (ALS) patient [J] . Cui F., Cai W., Wang Z., Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . 2013,第7a8期

机译：中国肌萎缩性侧索硬化症（ALS）患者SOD1（铜/超氧化物歧化酶-1）基因的新突变
3. Tar DNA binding protein of 43 kDa (TDP-43), 14-3-3 proteins and copper/zinc superoxide dismutase (SOD1) interact to modulate NFL mRNA stability. Implications for altered RNA processing in amyotrophic lateral sclerosis (ALS) [J] . Kathryn Volkemng, Cheryl Leystra Lantz, Wenchang Yang, Brain research . 2010,第Null期

机译：43 kDa的Tar DNA结合蛋白（TDP-43），14-3-3蛋白和铜/锌超氧化物歧化酶（SOD1）相互作用以调节NFL mRNA的稳定性。肌萎缩性侧索硬化症（ALS）中RNA加工过程改变的意义
4. Analysis of Cross-linked Cu, Zn Superoxide Dismutase (SOD1) associated with Familial Amyotrophic Lateral Sclerosis by MALDI-TOF MS and FT-ICR MS [C] . Jared R. Auclair, Kristin J. Boggio, Dagmar Ringe, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2009

机译：MARDI-TOF MS和FT-ICR MS的家族性肌萎缩外硬化相关交联Cu，Zn超氧化物歧化酶（SOD1）的分析
5. Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis: Solution dynamics of the apoproteins and shotgun proteomics of SOD1 aggregates purified from transgenic mouse. [D] . Shaw, Bryan Francis. 2005

机译：铜锌超氧化物歧化酶和肌萎缩性侧索硬化：从转基因小鼠中纯化的SOD1聚集体的脱辅基蛋白和shot弹枪蛋白质组学的溶液动力学。
6. Mutations in Superoxide Dismutase 1 (Sod1) Linked to Familial Amyotrophic Lateral Sclerosis Can Disrupt High-Affinity Zinc-Binding Promoted by the Copper Chaperone for Sod1 (Ccs) [O] . Stefanie D. Boyd, Morgan S. Ullrich, Jenifer S. Calvo, 2020

机译：与家族性肌萎缩性侧索硬化症相关的超氧化物歧化酶1（Sod1）的突变可破坏铜伴侣蛋白对Sod1（Ccs）促进的高亲和力锌结合。
7. Rats Expressing Human Cytosolic Copper–Zinc Superoxide Dismutase Transgenes with Amyotrophic Lateral Sclerosis: Associated Mutations Develop Motor Neuron Disease [O] . Makiko Nagai, Masashi Aoki, Ichiro Miyoshi, 2001

机译：表达人胞质铜 - 锌超氧化物歧化酶转基因与肌营养的侧面硬化剂的大鼠：相关突变显影运动神经元疾病

Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations.

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