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参与解毒和神经退行性疾病的肝脏酶的遗传变异。

Hereditary variation of liver enzymes involved with detoxification and neurodegenerative disease.

作者信息

Williams A C, Steventon G B, Sturman S, Waring R H

机构信息

University Department of Neurology, University of Birmingham, Edgbaston, UK.

出版信息

J Inherit Metab Dis. 1991;14(4):431-5. doi: 10.1007/BF01797916.

Abstract

Enzymes involved with the metabolic transformation of xenobiotics have recently been studied in patients with the neurodegenerative diseases, Alzheimer's disease, Parkinson's disease and motor neurone disease. Defects were detected in sulphur pathways and also, in the case of Parkinson's disease, in monoamine oxidase B. The possibility exists that the ability to cope safely with endogenous and exogenous substances which have neurotoxic properties is important in the pathogenesis of these diseases. Potentially such individuals could be identified preclinically and these diseases postponed by reduction in the load of toxin or modification of the relevant enzymic activity.

摘要

最近,人们对患有神经退行性疾病(阿尔茨海默病、帕金森病和运动神经元病)的患者体内参与外源性物质代谢转化的酶进行了研究。在硫代谢途径中检测到了缺陷,在帕金森病患者中还检测到单胺氧化酶B存在缺陷。有可能安全应对具有神经毒性的内源性和外源性物质的能力在这些疾病的发病机制中很重要。潜在地,可以在临床前识别出这类个体,并通过减少毒素负荷或改变相关酶活性来延缓这些疾病的发生。

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