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Updated: May 20, 2025

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
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Published on: June 30, 2022

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与癌症相关的SF3B1突变K700E导致U2/分支点识别的广泛变化,而不会改变拼接

Andrey Damianov1, Chia-Ho Lin1, Jian Zhang2

  • 1Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, CA 90095.

Proceedings of the National Academy of Sciences of the United States of America
|March 26, 2025
PubMed
概括

SF3B1突变在骨髓分裂综合征中很常见,会破坏结合体的功能. 这项研究表明,K700E突变导致不精确的分支部位识别,扩大了对其致癌作用的理解.

关键词:
在U2 snRNP中使用.内部分支点 内部分支点骨髓分裂性综合征是什么?在mRNA前拼接.

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