Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK.
Edinburgh Medical School: Biomedical Sciences, University of Edinburgh, Edinburgh, UK.
Cell Mol Life Sci. 2018 Nov;75(21):3877-3894. doi: 10.1007/s00018-018-2849-1. Epub 2018 Jun 5.
Ever since loss of survival motor neuron (SMN) protein was identified as the direct cause of the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant efforts have been made to reveal the molecular functions of this ubiquitously expressed protein. Resulting research demonstrated that SMN plays important roles in multiple fundamental cellular homeostatic pathways, including a well-characterised role in the assembly of the spliceosome and biogenesis of ribonucleoproteins. More recent studies have shown that SMN is also involved in other housekeeping processes, including mRNA trafficking and local translation, cytoskeletal dynamics, endocytosis and autophagy. Moreover, SMN has been shown to influence mitochondria and bioenergetic pathways as well as regulate function of the ubiquitin-proteasome system. In this review, we summarise these diverse functions of SMN, confirming its key role in maintenance of the homeostatic environment of the cell.
自从生存运动神经元 (SMN) 蛋白的缺失被确定为儿童遗传性神经退行性疾病脊髓性肌萎缩症的直接原因以来，人们已经做出了巨大的努力来揭示这种广泛表达的蛋白质的分子功能。研究表明，SMN 在多种基本的细胞内稳态途径中发挥重要作用，包括在剪接体组装和核糖核蛋白生物发生中具有特征性的作用。最近的研究表明，SMN 还参与其他管家过程，包括 mRNA 运输和局部翻译、细胞骨架动态、内吞作用和自噬。此外，SMN 已被证明可以影响线粒体和生物能途径以及调节泛素-蛋白酶体系统的功能。在这篇综述中，我们总结了 SMN 的这些不同功能，证实了它在维持细胞内稳态环境中的关键作用。
