Davies Kay E, Nowak Kristen J
Department of Physiology, Anatomy and Genetics, MRC Functional Genetics Unit, South Parks Road, Oxford OX1 3QX, UK.
Nat Rev Mol Cell Biol. 2006 Oct;7(10):762-73. doi: 10.1038/nrm2024. Epub 2006 Sep 13.
The study of the muscle cell in the muscular dystrophies (MDs) has shown that mutant proteins result in perturbations of many cellular components. MDs have been associated with mutations in structural proteins, signalling molecules and enzymes as well as mutations that result in aberrant processing of mRNA or alterations in post-translational modifications of proteins. These findings have not only revealed important insights for cell biologists, but have also provided unexpected and exciting new approaches for therapy.
对肌营养不良症（MDs）中肌肉细胞的研究表明，突变蛋白会导致许多细胞成分的紊乱。MDs与结构蛋白、信号分子和酶的突变有关，也与导致mRNA异常加工或蛋白质翻译后修饰改变的突变有关。这些发现不仅为细胞生物学家提供了重要的见解，也为治疗提供了意想不到且令人兴奋的新方法。
