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 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 …

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

H Najmabadi, H Hu, M Garshasbi, T Zemojtel… - Nature, 2011 - nature.com
Common diseases are often complex because they are genetically heterogeneous, with
many different genetic defects giving rise to clinically indistinguishable phenotypes. This has …

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 …

Role of tRNA modifications in human diseases

AG Torres, E Batlle, LR de Pouplana - Trends in molecular medicine, 2014 - cell.com
Transfer RNAs (tRNAs) are key for efficient and accurate protein translation. To be fully
active, tRNAs need to be heavily modified post-transcriptionally. Growing evidence indicates …

X-linked mental retardation

HH Ropers, BCJ Hamel - Nature reviews genetics, 2005 - nature.com
Genetic factors have an important role in the aetiology of mental retardation. However, their
contribution is often underestimated because in developed countries, severely affected …

RNA 2′-O-methylation (Nm) modification in human diseases

DG Dimitrova, L Teysset, C Carré - Genes, 2019 - mdpi.com
Nm (2′-O-methylation) is one of the most common modifications in the RNA world. It has
the potential to influence the RNA molecules in multiple ways, such as structure, stability …

The genetic basis of non-syndromic intellectual disability: a review

L Kaufman, M Ayub, JB Vincent - Journal of neurodevelopmental disorders, 2010 - Springer
Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result
of genetic mutation. Where ID is present together with additional clinical symptoms or …

ALKBH1 is an RNA dioxygenase responsible for cytoplasmic and mitochondrial tRNA modifications

L Kawarada, T Suzuki, T Ohira, S Hirata… - Nucleic acids …, 2017 - academic.oup.com
Abstract ALKBH1 is a 2-oxoglutarate-and Fe2+-dependent dioxygenase responsible for
multiple cellular functions. Here, we show that ALKBH1 is involved in biogenesis of 5 …

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 …