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 …
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
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 …
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 …
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 …
and function of neural cells. Global reductions in translation initiation resulting from …
Condensates in RNA repeat sequences are heterogeneously organized and exhibit reptation dynamics
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 …
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) …
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 …
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
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 …
microsatellite expansion diseases, but the mechanisms remain unclear. We show that RAN …
RNA-binding proteins in neurodegeneration: mechanisms in aggregate
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 …
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 …
spacial and temporal organization of the densely packed intracellular environment. This …