Human Pathophysiology and Translational Medicine Program, Institute for Translational Sciences, University of Texas Medical Branch, Galveston, TX 77555-5302, USA.
Department of Biochemistry and Molecular Biology, University of Texas Medical Branch, Galveston, TX 77555-5302, USA.
Int J Mol Sci. 2023 Jul 13;24(14):11412. doi: 10.3390/ijms241411412.
Over the last decade, our understanding of spliceosome structure and function has significantly improved, refining the study of the impact of dysregulated splicing on human disease. As a result, targeted splicing therapeutics have been developed, treating various diseases including spinal muscular atrophy and Duchenne muscular dystrophy. These advancements are very promising and emphasize the critical role of proper splicing in maintaining human health. Herein, we provide an overview of the current information on the composition and assembly of early splicing complexes-commitment complex and pre-spliceosome-and their association with human disease.
在过去的十年中，我们对剪接体结构和功能的理解有了显著的提高，从而深化了对失调剪接对人类疾病影响的研究。因此，靶向剪接治疗方法已经被开发出来，用于治疗各种疾病，包括脊髓性肌萎缩症和杜氏肌营养不良症。这些进展非常有前景，强调了正确剪接在维持人类健康方面的关键作用。在此，我们提供了对早期剪接复合物（承诺复合物和前剪接体）的组成和组装及其与人类疾病的关联的最新信息概述。
