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 …

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 …

Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract

AT Van Der Ven, DM Connaughton, H Ityel… - Journal of the …, 2018 - journals.lww.com
Background Congenital anomalies of the kidney and urinary tract (CAKUT) are the most
prevalent cause of kidney disease in the first three decades of life. Previous gene panel …

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 …

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 …

CO2-sensitive tRNA modification associated with human mitochondrial disease

H Lin, K Miyauchi, T Harada, R Okita… - Nature …, 2018 - nature.com
It has been generally thought that tRNA modifications are stable and static, and their
frequencies are rarely regulated. N 6-threonylcarbamoyladenosine (t6A) occurs at position …

Nephrotic syndrome

C Wang, LA Greenbaum - Pediatric Clinics, 2019 - pediatric.theclinics.com
There are 4 classic features of nephrotic syndrome (Box 1). 1 There are many different
causes of nephrotic syndrome (Table 1), but they share a common pathophysiology …