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肌肉萎缩症的小鼠模型:概述。

Mouse models for muscular dystrophies: an overview.

机构信息

Leiden University Medical Center, Department of Human Genetics, Leiden, 2333 ZA, The Netherlands

The University of Western Australia, School of Human Sciences, Perth 6009, Australia.

出版信息

Dis Model Mech. 2020 Feb 21;13(2):dmm043562. doi: 10.1242/dmm.043562.

Abstract

Muscular dystrophies (MDs) encompass a wide variety of inherited disorders that are characterized by loss of muscle tissue associated with a progressive reduction in muscle function. With a cure lacking for MDs, preclinical developments of therapeutic approaches depend on well-characterized animal models that recapitulate the specific pathology in patients. The mouse is the most widely and extensively used model for MDs, and it has played a key role in our understanding of the molecular mechanisms underlying MD pathogenesis. This has enabled the development of therapeutic strategies. Owing to advancements in genetic engineering, a wide variety of mouse models are available for the majority of MDs. Here, we summarize the characteristics of the most commonly used mouse models for a subset of highly studied MDs, collated into a table. Together with references to key publications describing these models, this brief but detailed overview would be useful for those interested in, or working with, mouse models of MD.

摘要

肌肉萎缩症(MDs)涵盖了多种遗传性疾病,其特征是肌肉组织丧失,并伴有肌肉功能逐渐下降。由于缺乏针对 MD 的治疗方法,治疗方法的临床前发展依赖于能够重现患者特定病理学的经过充分表征的动物模型。小鼠是 MD 最广泛和广泛使用的模型,它在我们对 MD 发病机制的分子机制的理解中发挥了关键作用。这使得治疗策略的发展成为可能。由于基因工程的进步,大多数 MD 都有各种各样的小鼠模型。在这里,我们总结了一组高度研究的 MD 的最常用小鼠模型的特征,将其整理成一个表格。结合描述这些模型的关键出版物的参考文献,这个简短但详细的概述对于那些对 MD 小鼠模型感兴趣或正在使用它们的人将非常有用。

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