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 …

Regulation and roles of RNA modifications in aging‐related diseases

Z Jiapaer, D Su, L Hua, HI Lehmann, P Gokulnath… - Aging …, 2022 - Wiley Online Library
With the aging of the global population, accumulating interest is focused on manipulating the
fundamental aging‐related signaling pathways to delay the physiological aging process and …

Control of protein synthesis through mRNA pseudouridylation by dyskerin

C Pederiva, DM Trevisan, D Peirasmaki, S Chen… - Science …, 2023 - science.org
Posttranscriptional modifications of mRNA have emerged as regulators of gene expression.
Although pseudouridylation is the most abundant, its biological role remains poorly …

An integrated taxonomy for monogenic inflammatory bowel disease

C Bolton, CS Smillie, S Pandey, R Elmentaite, G Wei… - Gastroenterology, 2022 - Elsevier
Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

METTL5-mediated 18S rRNA m6A modification promotes oncogenic mRNA translation and intrahepatic cholangiocarcinoma progression

Z Dai, W Zhu, Y Hou, X Zhang, X Ren, K Lei, J Liao… - Molecular Therapy, 2023 - cell.com
Intrahepatic cholangiocarcinoma (ICC) is a deadly cancer with rapid tumor progression.
While hyperactive mRNA translation caused by mis-regulated mRNA or tRNA modifications …

Why U matters: detection and functions of pseudouridine modifications in mRNAs

R Rodell, N Robalin, NM Martinez - Trends in Biochemical Sciences, 2024 - cell.com
The uridine modifications pseudouridine (Ψ), dihydrouridine, and 5-methyluridine are
present in eukaryotic mRNAs. Many uridine-modifying enzymes are associated with human …

Editing and chemical modifications on non-coding RNAs in cancer: a new tale with clinical significance

LI Torsin, GED Petrescu, AA Sabo, B Chen… - International journal of …, 2021 - mdpi.com
Currently, for seemingly every type of cancer, dysregulated levels of non-coding RNAs
(ncRNAs) are reported and non-coding transcripts are expected to be the next class of …

Telomerase RNA processing: Implications for human health and disease

N Nagpal, S Agarwal - Stem Cells, 2020 - academic.oup.com
Telomeres are composed of repetitive DNA sequences that are replenished by the enzyme
telomerase to maintain the self-renewal capacity of stem cells. The RNA component of …

C-Ribosylating Enzymes in the (Bio)Synthesis of C-Nucleosides and C-Glycosylated Natural Products

M Pfeiffer, B Nidetzky - ACS Catalysis, 2023 - ACS Publications
Small-molecule glycosides that exhibit a β-d-ribosyl residue linked to an aglycone via a
noncanonical C-glycosidic linkage are of great biological importance. They occur naturally …

FUS regulates a subset of snoRNA expression and modulates the level of rRNA modifications

K Gawade, P Plewka, SJ Häfner, AH Lund… - Scientific Reports, 2023 - nature.com
FUS is a multifunctional protein involved in many aspects of RNA metabolism, including
transcription, splicing, translation, miRNA processing, and replication-dependent histone …