Laminopathies are a group of inherited disorders caused by mutations in the lamin A/C gene, and can affect diverse organs or tissues, or can be systemic, causing premature aging. In the present review, we report on the composition and structure of the nuclear lamina and the role of lamins in nuclear mechanics and their involvement in human diseases, and provide some examples of laminopathies and current therapeutic approaches.
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机译:椎病是由lamin A / C基因突变引起的一组遗传性疾病,可影响多种器官或组织,或者可能是全身性的,导致早衰。在本综述中,我们报告了核层板的组成和结构以及核纤层蛋白在核力学中的作用及其在人类疾病中的参与,并提供了一些椎板病和当前治疗方法的实例。
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