假尿嘧啶化的重要性:与第五核苷有关的人类疾病。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2023-06-01 DOI:10.1007/s42977-023-00158-3

Tália Magdolna Keszthelyi, Kálmán Tory

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引用次数: 1

摘要

假尿嘧啶化是真核生物中最丰富的RNA修饰之一，使假尿嘧啶被称为“第五核苷”。这种高度保守的改变影响所有非编码和编码RNA类型。它的作用和重要性得到了越来越广泛的研究，特别是考虑到它的缺失或损伤会导致严重的遗传性疾病。在这里，我们总结了迄今为止描述的与假尿嘧啶化过程参与者有关的人类遗传疾病。

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The importance of pseudouridylation: human disorders related to the fifth nucleoside.

Pseudouridylation is one of the most abundant RNA modifications in eukaryotes, making pseudouridine known as the "fifth nucleoside." This highly conserved alteration affects all non-coding and coding RNA types. Its role and importance have been increasingly widely researched, especially considering that its absence or damage leads to serious hereditary diseases. Here, we summarize the human genetic disorders described to date that are related to the participants of the pseudouridylation process.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.

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