Keszthelyi, Tália Magdolna and Tory, Kálmán (2023) The importance of pseudouridylation: human disorders related to the fifth nucleoside. BIOLOGIA FUTURA, 74 (1-2). pp. 3-15. ISSN 2676-8615
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Official URL: https://doi.org/10.1007/s42977-023-00158-3
Abstract
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.
| Item Type: | Article |
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| Uncontrolled Keywords: | Pseudouridylation, Pseudouridine, RNA modification |
| Subjects: | Q Science / természettudomány > QH Natural history / természetrajz > QH301 Biology / biológia |
| SWORD Depositor: | MTMT SWORD |
| Depositing User: | MTMT SWORD |
| Date Deposited: | 04 Sep 2023 11:43 |
| Last Modified: | 04 Sep 2023 11:43 |
| URI: | http://real.mtak.hu/id/eprint/172560 |
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