Nuclear lamins, diseases and aging
Nuclear lamins, diseases and aging
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DOI：
10.1016/j.ceb.2006.03.007
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发表时间：
2006-06-01
影响因子：
7.5
通讯作者：
Gruenbaum, Yosef
中科院分区：
文献类型：
--
作者：
Mattout, Anna;Dechat, Thomas;Gruenbaum, Yosef
核纤层蛋白是V型中间丝蛋白。它们是外周核纤层的主要组成部分，外周核纤层是内核膜下面的复杂蛋白质网络。除了提供核形状和机械稳定性外，它们还需要染色质组织，转录调节，DNA复制，核组装和核定位。在过去的几年中，由于鉴定出至少12种与编码A型核纤层蛋白的LMNA基因突变相关的不同人类疾病，因此对核纤层蛋白的兴趣增加。这些疾病统称为核纤层蛋白病，影响肌肉、脂肪、骨、神经和皮肤细胞，范围从肌营养不良到加速老化。
Nuclear lamins are type V intermediate filament proteins. They are the major building blocks of the peripheral nuclear lamina, a complex meshwork of proteins underlying the inner nuclear membrane. In addition to providing nuclear shape and mechanical stability, they are required for chromatin organization, transcription regulation, DNA replication, nuclear assembly and nuclear positioning. Over the past few years, interest in the lamins has increased because of the identification of at least 12 distinct human diseases associated with mutations in the LMNA gene, which encodes A-type lamins. These diseases, collectively termed laminopathies, affect muscle, adipose, bone, nerve and skin cells and range from muscular dystrophies to accelerated aging.