假尿嘧啶化的重要性:与第五核苷有关的人类疾病。

IF 1.8 4区生物学 Q3 BIOLOGY

Biologia futura 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。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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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

Biologia futura Agricultural and Biological Sciences-Agricultural and Biological Sciences (all)

CiteScore

3.50

自引率

0.00%

发文量

期刊介绍： How can the scientific knowledge we possess now influence that future? That is, the FUTURE of Earth and life − of humankind. Can we make choices in the present to change our future? How can 21st century biological research ask proper scientific questions and find solid answers? Addressing these questions is the main goal of Biologia Futura (formerly Acta Biologica Hungarica). In keeping with the name, the new mission is to focus on areas of biology where major advances are to be expected, areas of biology with strong inter-disciplinary connection and to provide new avenues for future research in biology. Biologia Futura aims to publish articles from all fields of biology.