Tandem repeats mediating genetic plasticity in health and disease

AJ Hannan - Nature Reviews Genetics, 2018 - nature.com
Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that
distinguish them from other genetic variants, including the fact that they are more liable to …

The changing paradigm of intron retention: regulation, ramifications and recipes

G Monteuuis, JJL Wong, CG Bailey… - Nucleic acids …, 2019 - academic.oup.com
Intron retention (IR) is a form of alternative splicing that has long been neglected in
mammalian systems although it has been studied for decades in non-mammalian species …

The impact of short tandem repeat variation on gene expression

SF Fotsing, J Margoliash, C Wang, S Saini, R Yanicky… - Nature …, 2019 - nature.com
Short tandem repeats (STRs) have been implicated in a variety of complex traits in humans.
However, genome-wide studies of the effects of STRs on gene expression thus far have had …

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 …

Condensates in RNA repeat sequences are heterogeneously organized and exhibit reptation dynamics

HT Nguyen, N Hori, D Thirumalai - Nature chemistry, 2022 - nature.com
Although it is known that RNA undergoes liquid–liquid phase separation, the interplay
between the molecular driving forces and the emergent features of the condensates, such as …

CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor/ataxia syndrome

S Asamitsu, Y Yabuki, S Ikenoshita, K Kawakubo… - Science …, 2021 - science.org
Fragile X-related tremor/ataxia syndrome (FXTAS) is a neurodegenerative disease caused
by CGG triplet repeat expansions in FMR1, which elicit repeat-associated non-AUG (RAN) …

Targeting RNA in mammalian systems with small molecules

A Donlic, AE Hargrove - Wiley Interdisciplinary Reviews: RNA, 2018 - Wiley Online Library
The recognition of RNA functions beyond canonical protein synthesis has challenged the
central dogma of molecular biology. Indeed, RNA is now known to directly regulate many …

Metformin inhibits RAN translation through PKR pathway and mitigates disease in C9orf72 ALS/FTD mice

T Zu, S Guo, O Bardhi, DA Ryskamp… - Proceedings of the …, 2020 - National Acad Sciences
Repeat associated non-AUG (RAN) translation is found in a growing number of
microsatellite expansion diseases, but the mechanisms remain unclear. We show that RAN …

RNA-binding proteins in neurodegeneration: mechanisms in aggregate

EG Conlon, JL Manley - Genes & development, 2017 - genesdev.cshlp.org
Neurodegeneration is a leading cause of death in the developed world and a natural, albeit
unfortunate, consequence of longer-lived populations. Despite great demand for therapeutic …

The role of RNA in biological phase separations

MM Fay, PJ Anderson - Journal of molecular biology, 2018 - Elsevier
Phase transitions that alter the physical state of ribonucleoprotein particles contribute to the
spacial and temporal organization of the densely packed intracellular environment. This …