Gene mutation defends against Alzheimer's disease

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Gene mutation defends against Alzheimer's disease

机译：基因突变可以抵抗阿尔茨海默氏病

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Almost 30 million people live with Alzheimer's disease worldwide, a staggering health-care burden that is expected to quadruple by 2050. Yet doctors can offer no effective treatment, and scientists have not been able definitively to pin down the underlying mechanism of the disease. Research published this week offers some hope on both counts, by showing that a lucky few people carry a genetic mutation that naturally prevents them from developing the condition.

机译：全世界将近有三千万人患有阿尔茨海默氏病，医疗保健负担令人震惊，预计到2050年将翻两番。然而，医生无法提供有效的治疗方法，科学家也无法确切地确定这种疾病的潜在机制。本周发表的研究表明，幸运的是少数人携带的基因突变会自然地阻止他们患病，这给这两个方面都带来了希望。

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《Nature》 |2012年第7406期|p.153|共1页
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EWEN CALLAWAY;
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收录信息美国《科学引文索引》(SCI);美国《工程索引》(EI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
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专利

1. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. [J] . Rogaev EI, Sherrington R, Rogaeva EA, Nature . 1995,第6543期

机译：家族性阿尔茨海默氏病的种类与染色体1上与阿尔茨海默氏病3型基因相关的基因有错义突变。
2. Patterns and severity of vascular amyloid in Alzheimer's disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer's disease [J] . Mann David M. A., Davidson Yvonne S., Robinson Andrew C., Acta Neuropathologica . 2018,第4期

机译：血管淀粉样蛋白在Alzheimer疾病中的模式和严重程度与APP基因的重复和畸形突变相关，唐氏综合征和散发性阿尔茨海默病
3. Allele-specific silencing of Alzheimer's disease genes - The amyloid precursor protein genes with Swedish or London mutations [J] . Feng Xiaorong, Zhao Ping, He Yunxiu, Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2006,第1期

机译：阿尔茨海默氏病基因的等位基因特异性沉默-具有瑞典或伦敦突变的淀粉样前体蛋白基因
4. Analysis of Genes Associated with Alzheimer's Disease Using Mutation Information [C] . Chenyi Lu, Jiarun Wang International Conference on Mechanical, Control and Computer Engineering . 2020

机译：利用突变信息分析与阿尔茨海默病相关的基因
5. Modeling clinically heterogeneous Alzheimer's disease-linked Presenilin mutations with transgenic Drosophila. [D] . Seidner, Glen Alan. 2006

机译：用转基因果蝇对临床上异质的阿尔茨海默氏病相关的早老素突变进行建模。
6. Patterns and severity of vascular amyloid in Alzheimer’s disease associated with duplications and missense mutations in APP gene Down syndrome and sporadic Alzheimer’s disease [O] . David M. A. Mann, Yvonne S. Davidson, Andrew C. Robinson, -1

机译：阿尔茨海默氏病与淀粉样蛋白基因重复和错义突变唐氏综合症和偶发性阿尔茨海默氏病相关的血管淀粉样蛋白的类型和严重性
7. Aberrant Amyloid Precursor Protein (APP) Processing in Hereditary Forms of Alzheimer Disease Caused by APP Familial Alzheimer Disease Mutations Can Be Rescued by Mutations in the APP GxxxG Motif* [O] . Munter, Lisa-Marie, Botev, Anne, Richter, Luise, 2010

机译：由APP家族性阿尔茨海默氏病引起的阿尔茨海默氏病遗传形式的异常淀粉样前体蛋白（APP）加工可通过APP GxxxG基序中的突变来挽救

Gene mutation defends against Alzheimer's disease

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