Insights into the effects of disease-causing mutations in human actins.
Insights into the effects of disease-causing mutations in human actins.
复制标题
深入了解人类肌动蛋白致病突变的影响。
DOI：
10.1002/cm.21169
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发表时间：
2014
期刊：
影响因子：
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通讯作者：
Wen,Kuo-Kuang
中科院分区：
文献类型：
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作者：
Rubenstein,PeterA;Wen,Kuo-Kuang
人类所有六种肌动蛋白的突变现已被证明会导致疾病。然而，由于许多因素，人们很难深入了解这些致病性突变带来的肌动蛋白功能变化如何导致疾病表型。这些因素包括同一细胞中存在多种肌动蛋白，纯突变材料的可及性有限，以及与表现疾病的结构及其组成细胞相关的复杂性。为了克服这些困难，研究人员转向使用模型系统。这篇综述介绍了这些不同的方法，使用它们获得的初步结果，以及它们提供的见解变构机制，支配肌动蛋白功能。虽然结果到目前为止还没有解释一个特定的疾病表型在分子水平上，他们提供了有价值的洞察肌动蛋白功能的机制水平，可用于在未来描绘这些不同的放线菌病的分子基础。© 2014 Wiley Periodicals，Inc.
Mutations in all six actins in humans have now been shown to cause diseases. However, a number of factors have made it difficult to gain insight into how the changes in actin functions brought about by these pathogenic mutations result in the disease phenotype. These include the presence of multiple actins in the same cell, limited accessibility to pure mutant material, and complexities associated with the structures and their component cells that manifest the diseases. To try to circumvent these difficulties, investigators have turned to the use of model systems. This review describes these various approaches, the initial results obtained using them, and the insight they have provided into allosteric mechanisms that govern actin function. Although results so far have not explained a particular disease phenotype at the molecular level, they have provided valuable insight into actin function at the mechanistic level which can be utilized in the future to delineate the molecular bases of these different actinopathies. © 2014 Wiley Periodicals, Inc.