Alternative splicing and disease.

Tazi J; Bakkour N; Stamm S

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Alternative splicing and disease.

机译：替代剪接和疾病。

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Almost all protein-coding genes are spliced and their majority is alternatively spliced. Alternative splicing is a key element in eukaryotic gene expression that increases the coding capacity of the human genome and an increasing number of examples illustrates that the selection of wrong splice sites causes human disease. A fine-tuned balance of factors regulates splice site selection. Here, we discuss well-studied examples that show how a disturbance of this balance can cause human disease. The rapidly emerging knowledge of splicing regulation now allows the development of treatment options.

机译：几乎所有的蛋白质编码基因都被剪接，而它们的大多数被剪接。选择性剪接是真核基因表达中的关键要素，可增加人类基因组的编码能力，并且越来越多的例子说明选择错误的剪接位点会导致人类疾病。各种因素的微调可以调节拼接位点的选择。在这里，我们讨论经过充分研究的示例，这些示例说明了这种平衡的扰动如何导致人类疾病。迅速出现的剪接调控知识现在允许开发治疗方案。

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《Biochimica et biophysica acta. Molecular basis of disease: BBA》 |2009年第1期|共13页
作者
Tazi J; Bakkour N; Stamm S;
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中图分类生物工程学（生物技术）;
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1. 17A, a novel non-coding RNA, regulates GABA B alternative splicing and signaling in response to inflammatory stimuli and in Alzheimer disease. [J] . Massone S, Vassallo I, Fiorino G, Neurobiology of disease . 2011,第2期

机译：17A，一种新型的非编码RNA，响应炎症刺激和阿尔茨海默氏病，调节GABA B的选择性剪接和信号传导。
2. Editorial on alternative splicing and disease. [J] . Barta A, Schumperli D RNA biology . 2010,第4期

机译：关于替代剪接和疾病的社论。
3. Fine mapping of calcineurin (PPP3CA) gene reveals novel alternative splicing patterns, association of 5'UTR trinucleotide repeat with addiction vulnerability, and differential isoform expression in Alzheimer's disease. [J] . Chiocco MJ, Zhu X, Walther D, Substance use & misuse . 2010,第11期

机译：钙调神经磷酸酶（PPP3CA）基因的精细定位揭示了新型的可变剪接模式，5'UTR三核苷酸重复序列与成瘾易感性以及阿尔茨海默氏病中差异亚型的表达。
4. Structural genomics analysis of alternative splicing and its application in modeling structures of alternatively spliced variants [C] . Peng Wang, Bo Yan, Juntao Guo, . 2005

机译：替代剪接的结构基因组学分析及其在替代剪接变体结构建模中的应用
5. Alternative splicing of BACE1 pre-mRNA and its implications for Alzheimer disease. [D] . Mowrer, Karen Renee. 2008

机译：BACE1 pre-mRNA的可变剪接及其对阿尔茨海默氏病的影响。
6. Evolution of Alternative Splicing Regulation: Changes in Predicted Exonic Splicing Regulators Are Not Associated with Changes in Alternative Splicing Levels in Primates [O] . Manuel Irimia, Jakob Lewin Rukov, Scott William Roy 2009

机译：替代剪接调控的演变：预测的外显性剪接调节剂的变化与灵长类中替代剪接水平的变化无关
7. Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. [O] . Wen-Hsin Chang, Dau-Ming Niu, Chi-Yu Lu, 2017

机译：调节法布里病中GLa（IVs4 + 919G> a）的可变剪接。

Alternative splicing and disease.

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