The RNA modification landscape in human disease

N Jonkhout, J Tran, MA Smith, N Schonrock, JS Mattick… - Rna, 2017 - rnajournal.cshlp.org
RNA modifications have been historically considered as fine-tuning chemo-structural
features of infrastructural RNAs, such as rRNAs, tRNAs, and snoRNAs. This view has …

Tuning the ribosome: the influence of rRNA modification on eukaryotic ribosome biogenesis and function

KE Sloan, AS Warda, S Sharma, KD Entian… - RNA biology, 2017 - Taylor & Francis
ABSTRACT rRNAs are extensively modified during their transcription and subsequent
maturation in the nucleolus, nucleus and cytoplasm. RNA modifications, which are installed …

Nucleolar maturation of the human small subunit processome

S Singh, A Vanden Broeck, L Miller, M Chaker-Margot… - Science, 2021 - science.org
INTRODUCTION The ribosome catalyzes protein synthesis in all cells by coupling the
decoding of messenger RNA by the small ribosomal subunit with peptide bond formation by …

Uncovering the assembly pathway of human ribosomes and its emerging links to disease

KE Bohnsack, MT Bohnsack - The EMBO journal, 2019 - embopress.org
The essential cellular process of ribosome biogenesis is at the nexus of various signalling
pathways that coordinate protein synthesis with cellular growth and proliferation. The fact …

Translation deregulation in human disease

S Tahmasebi, A Khoutorsky, MB Mathews… - … reviews Molecular cell …, 2018 - nature.com
Advances in sequencing and high-throughput techniques have provided an unprecedented
opportunity to interrogate human diseases on a genome-wide scale. The list of disease …

Naturally occurring modified ribonucleosides

PJ McCown, A Ruszkowska, CN Kunkler… - Wiley …, 2020 - Wiley Online Library
The chemical identity of RNA molecules beyond the four standard ribonucleosides has
fascinated scientists since pseudouridine was characterized as the “fifth” ribonucleotide in …

[HTML][HTML] Driving ribosome assembly

D Kressler, E Hurt, J Baβler - … et Biophysica Acta (BBA)-Molecular Cell …, 2010 - Elsevier
Ribosome biogenesis is a fundamental process that provides cells with the molecular
factories for cellular protein production. Accordingly, its misregulation lies at the heart of …

'View from a bridge': a new perspective on eukaryotic rRNA base modification

S Sharma, DLJ Lafontaine - Trends in biochemical sciences, 2015 - cell.com
Eukaryotic rRNA are modified frequently, although the diversity of modifications is low: in
yeast rRNA, there are only 12 different types out of a possible natural repertoire exceeding …

[HTML][HTML] Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome

AJ Warren - Advances in biological regulation, 2018 - Elsevier
Mutations that target the ubiquitous process of ribosome assembly paradoxically cause
diverse tissue-specific disorders (ribosomopathies) that are often associated with an …

RNA modification: mechanisms and therapeutic targets

L Qiu, Q Jing, 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 …