Lumb Jennifer H, Connell James W, Allison Rachel, Reid Evan
Department of Medical Genetics and Cambridge Institute for Medical Research, University of Cambridge, UK.
Biochim Biophys Acta. 2012 Jan;1823(1):192-7. doi: 10.1016/j.bbamcr.2011.08.010. Epub 2011 Aug 25.
In 1999, mutations in the gene encoding the microtubule severing AAA ATPase spastin were identified as a major cause of a genetic neurodegenerative condition termed hereditary spastic paraplegia (HSP). This finding stimulated intense study of the spastin protein and over the last decade, a combination of cell biological, in vivo, in vitro and structural studies have provided important mechanistic insights into the cellular functions of the protein, as well as elucidating cell biological pathways that might be involved in axonal maintenance and degeneration. Roles for spastin have emerged in shaping the endoplasmic reticulum and the abscission stage of cytokinesis, in which spastin appears to couple membrane modelling to microtubule regulation by severing.
1999年，编码微管切断AAA型ATP酶痉挛素的基因突变被确定为一种名为遗传性痉挛性截瘫（HSP）的遗传性神经退行性疾病的主要病因。这一发现激发了对痉挛素蛋白的深入研究，在过去十年中，细胞生物学、体内、体外和结构研究相结合，为该蛋白的细胞功能提供了重要的机制性见解，同时也阐明了可能参与轴突维持和退化的细胞生物学途径。痉挛素在塑造内质网和胞质分裂的脱离阶段发挥作用，在这个过程中，痉挛素似乎通过切断将膜塑形与微管调节联系起来。
