Genetics of human telomere biology disorders

P Revy, C Kannengiesser, AA Bertuch - Nature Reviews Genetics, 2023 - nature.com
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

Ribosomal proteins and human diseases: molecular mechanisms and targeted therapy

J Kang, N Brajanovski, KT Chan, J Xuan… - Signal transduction and …, 2021 - nature.com
Ribosome biogenesis and protein synthesis are fundamental rate-limiting steps for cell
growth and proliferation. The ribosomal proteins (RPs), comprising the structural parts of the …

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 …

Role of RNA modifications in cancer

I Barbieri, T Kouzarides - Nature Reviews Cancer, 2020 - nature.com
Specific chemical modifications of biological molecules are an efficient way of regulating
molecular function, and a plethora of downstream signalling pathways are influenced by the …

Quantitative profiling of pseudouridylation dynamics in native RNAs with nanopore sequencing

O Begik, MC Lucas, LP Pryszcz, JM Ramirez… - Nature …, 2021 - nature.com
Nanopore RNA sequencing shows promise as a method for discriminating and identifying
different RNA modifications in native RNA. Expanding on the ability of nanopore sequencing …

The role of m6A, m5C and Ψ RNA modifications in cancer: Novel therapeutic opportunities

P Nombela, B Miguel-López, S Blanco - Molecular cancer, 2021 - Springer
RNA modifications have recently emerged as critical posttranscriptional regulators of gene
expression programmes. Significant advances have been made in understanding the …

Quantitative profiling of pseudouridylation landscape in the human transcriptome

M Zhang, Z Jiang, Y Ma, W Liu, Y Zhuang, B Lu… - Nature chemical …, 2023 - nature.com
Pseudouridine (Ψ) is an abundant post-transcriptional RNA modification in ncRNA and
mRNA. However, stoichiometric measurement of individual Ψ sites in human transcriptome …

RNA modification: mechanisms and therapeutic targets

L Qiu, Q **g, Y Li, J Han - Molecular biomedicine, 2023 - Springer
RNA modifications are dynamic and reversible chemical modifications on substrate RNA
that are regulated by specific modifying enzymes. They play important roles in the regulation …

Telomeres and telomerase: three decades of progress

JW Shay, WE Wright - Nature Reviews Genetics, 2019 - nature.com
Many recent advances have emerged in the telomere and telomerase fields. This Timeline
article highlights the key advances that have expanded our views on the mechanistic …

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 …