Emerging roles of RNA ac4C modification and NAT10 in mammalian development and human diseases

Y Zhang, Y Lei, Y Dong, S Chen, S Sun, F Zhou… - Pharmacology & …, 2023 - Elsevier
RNA ac4C modification is a novel and rare chemical modification observed in mRNA.
Traditional biochemical studies had primarily associated ac4C modification with tRNA and …

RNA structures in alternative splicing and back‐splicing

B Xu, Y Meng, Y Jin - Wiley Interdisciplinary Reviews: RNA, 2021 - Wiley Online Library
Alternative splicing greatly expands the transcriptomic and proteomic diversities related to
physiological and developmental processes in higher eukaryotes. Splicing of long …

[HTML][HTML] Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies

D Li, CS McIntosh, FL Mastaglia, SD Wilton… - Translational …, 2021 - Springer
Precursor messenger RNA (pre-mRNA) splicing is a fundamental step in eukaryotic gene
expression that systematically removes non-coding regions (introns) and ligates coding …

Repeat RNA expansion disorders of the nervous system: post-transcriptional mechanisms and therapeutic strategies

JL Schwartz, KL Jones, GW Yeo - Critical reviews in biochemistry …, 2021 - Taylor & Francis
Dozens of incurable neurological disorders result from expansion of short repeat sequences
in both coding and non-coding regions of the transcriptome. Short repeat expansions …

A druglike small molecule that targets r (CCUG) repeats in myotonic dystrophy type 2 facilitates degradation by RNA quality control pathways

S Wagner-Griffin, M Abe, RI Benhamou… - Journal of medicinal …, 2021 - ACS Publications
Myotonic dystrophy type 2 (DM2) is one of> 40 microsatellite disorders caused by RNA
repeat expansions. The DM2 repeat expansion, r (CCUG) exp (where “exp” denotes …

[HTML][HTML] A small molecule that binds an RNA repeat expansion stimulates its decay via the exosome complex

AJ Angelbello, RI Benhamou, SG Rzuczek… - Cell chemical …, 2021 - cell.com
Many diseases are caused by toxic RNA repeats. Herein, we designed a lead small
molecule that binds the structure of the r (CUG) repeat expansion [r (CUG) exp] that causes …

RNA in situ conformation sequencing reveals novel long-range RNA structures with impact on splicing

S Margasyuk, M Kalinina, M Petrova, D Skvortsov… - RNA, 2023 - rnajournal.cshlp.org
Over recent years, long-range RNA structure has emerged as a factor that is fundamental to
alternative splicing regulation. An increasing number of human disorders are now being …

A small molecule exploits hidden structural features within the RNA repeat expansion that causes c9ALS/FTD and rescues pathological hallmarks

A Ursu, JT Baisden, JA Bush, A Taghavi… - ACS chemical …, 2021 - ACS Publications
The hexanucleotide repeat expansion GGGGCC [r (G4C2) exp] within intron 1 of C9orf72
causes genetically defined amyotrophic lateral sclerosis and frontotemporal dementia …

[HTML][HTML] RAN translation of the expanded CAG repeats in the SCA3 disease context

M Jazurek-Ciesiolka, A Ciesiolka, AA Komur… - Journal of Molecular …, 2020 - Elsevier
Abstract Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disorder
caused by a CAG repeat expansion in the ATXN3 gene encoding the ataxin-3 protein …

Alternative splicing in neurodegenerative disease and the promise of RNA therapies

D Nikom, S Zheng - Nature Reviews Neuroscience, 2023 - nature.com
Alternative splicing generates a myriad of RNA products and protein isoforms of different
functions from a single gene. Dysregulated alternative splicing has emerged as a new …