RNA modifications in physiology and disease: towards clinical applications

S Delaunay, M Helm, M Frye - Nature Reviews Genetics, 2024 - nature.com
The ability of chemical modifications of single nucleotides to alter the electrostatic charge,
hydrophobic surface and base pairing of RNA molecules is exploited for the clinical use of …

The expanding world of tRNA modifications and their disease relevance

T Suzuki - Nature Reviews Molecular Cell Biology, 2021 - nature.com
Transfer RNA (tRNA) is an adapter molecule that links a specific codon in mRNA with its
corresponding amino acid during protein synthesis. tRNAs are enzymatically modified post …

[HTML][HTML] Quantitative sequencing using BID-seq uncovers abundant pseudouridines in mammalian mRNA at base resolution

Q Dai, LS Zhang, HL Sun, K Pajdzik, L Yang… - Nature …, 2023 - nature.com
Functional characterization of pseudouridine (Ψ) in mammalian mRNA has been hampered
by the lack of a quantitative method that maps Ψ in the whole transcriptome. We report …

[HTML][HTML] Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing

NM Martinez, A Su, MC Burns, JK Nussbacher… - Molecular cell, 2022 - cell.com
Pseudouridine is a modified nucleotide that is prevalent in human mRNAs and is
dynamically regulated. Here, we investigate when in their life cycle mRNAs become …

Targeting PUS7 suppresses tRNA pseudouridylation and glioblastoma tumorigenesis

Q Cui, K Yin, X Zhang, P Ye, X Chen, J Chao, H Meng… - Nature cancer, 2021 - nature.com
Pseudouridine is the most frequent epitranscriptomic modification. However, its cellular
functions remain largely unknown. Here, we show that pseudouridine synthase 7 (PUS7) is …

Regulation and function of RNA pseudouridylation in human cells

EK Borchardt, NM Martinez… - Annual review of …, 2020 - annualreviews.org
Recent advances in pseudouridine detection reveal a complex pseudouridine landscape
that includes messenger RNA and diverse classes of noncoding RNA in human cells. The …

[HTML][HTML] SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits

Y Zhang, Q Lu, Y Ye, K Huang, W Liu, Y Wu, X Zhong… - Genome biology, 2021 - Springer
Local genetic correlation quantifies the genetic similarity of complex traits in specific
genomic regions. However, accurate estimation of local genetic correlation remains …

[HTML][HTML] Decoding pseudouridine: an emerging target for therapeutic development

J Cerneckis, Q Cui, C He, C Yi, Y Shi - Trends in pharmacological sciences, 2022 - cell.com
Pseudouridine (Ψ) is the most abundant post-transcriptional RNA modification and is
widespread in multiple RNA species. Ψ impacts various aspects of RNA biology, conferring …

Human transfer RNA modopathies: diseases caused by aberrations in transfer RNA modifications

T Chujo, K Tomizawa - The FEBS journal, 2021 - Wiley Online Library
tRNA molecules are post‐transcriptionally modified by tRNA modification enzymes.
Although composed of different chemistries, more than 40 types of human tRNA …

[HTML][HTML] Epitranscriptomic regulation of cortical neurogenesis via Mettl8-dependent mitochondrial tRNA m3C modification

F Zhang, K Yoon, DY Zhang, NS Kim, G Ming, H Song - Cell Stem Cell, 2023 - cell.com
Increasing evidence implicates the critical roles of various epitranscriptomic RNA
modifications in different biological processes. Methyltransferase METTL8 installs 3 …