Mattout Anna, Dechat Thomas, Adam Stephen A, Goldman Robert D, Gruenbaum Yosef
Department of Genetics, The Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem 91904, Israel.
Curr Opin Cell Biol. 2006 Jun;18(3):335-41. doi: 10.1016/j.ceb.2006.03.007. Epub 2006 Apr 24.
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.
核纤层蛋白是V型中间丝蛋白。它们是核周层的主要组成部分，核周层是位于内核膜下方的复杂蛋白质网络。除了提供细胞核形状和机械稳定性外，它们对于染色质组织、转录调控、DNA复制、细胞核组装和细胞核定位也是必需的。在过去几年中，由于至少发现了12种与编码A型核纤层蛋白的LMNA基因突变相关的人类疾病，人们对核纤层蛋白的兴趣有所增加。这些疾病统称为核纤层蛋白病，会影响肌肉、脂肪、骨骼、神经和皮肤细胞，范围从肌肉萎缩症到加速衰老。
