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 …

The life and times of a tRNA

EM Phizicky, AK Hopper - Rna, 2023 - rnajournal.cshlp.org
The study of eukaryotic tRNA processing has given rise to an explosion of new information
and insights in the last several years. We now have unprecedented knowledge of each step …

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 …

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 …

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron… - Nature …, 2017 - nature.com
Galloway–Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by
the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain …

Regulation of mRNA translation in neurons—a matter of life and death

M Kapur, CE Monaghan, SL Ackerman - Neuron, 2017 - cell.com
Dynamic regulation of mRNA translation initiation and elongation is essential for the survival
and function of neural cells. Global reductions in translation initiation resulting from …

Small non-coding RNAs: new class of biomarkers and potential therapeutic targets in neurodegenerative disease

CN Watson, A Belli, V Di Pietro - Frontiers in genetics, 2019 - frontiersin.org
Neurodegenerative diseases (NDs) are becoming increasingly prevalent in the world, with
an aging population. In the last few decades, due to the devastating nature of these …

Matching tRNA modifications in humans to their known and predicted enzymes

V de Crécy-Lagard, P Boccaletto… - Nucleic acids …, 2019 - academic.oup.com
Abstract tRNA are post-transcriptionally modified by chemical modifications that affect all
aspects of tRNA biology. An increasing number of mutations underlying human genetic …

Functions of bacterial tRNA modifications: from ubiquity to diversity

V de Crécy-Lagard, M Jaroch - Trends in Microbiology, 2021 - cell.com
Modified nucleotides in tRNA are critical components of the translation apparatus, but their
importance in the process of translational regulation had until recently been greatly …

[HTML][HTML] Impact of tRNA modifications and tRNA-modifying enzymes on proteostasis and human disease

M Pereira, S Francisco, AS Varanda, M Santos… - International journal of …, 2018 - mdpi.com
Transfer RNAs (tRNAs) are key players of protein synthesis, as they decode the genetic
information organized in mRNA codons, translating them into the code of 20 amino acids. To …