The regulation and functions of DNA and RNA G-quadruplexes

D Varshney, J Spiegel, K Zyner, D Tannahill… - … reviews Molecular cell …, 2020 - nature.com
DNA and RNA can adopt various secondary structures. Four-stranded G-quadruplex (G4)
structures form through self-recognition of guanines into stacked tetrads, and considerable …

Molecular mechanisms underlying nucleotide repeat expansion disorders

I Malik, CP Kelley, ET Wang, PK Todd - Nature reviews Molecular cell …, 2021 - nature.com
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

[HTML][HTML] Antisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis

VA Korobeynikov, AK Lyashchenko… - Nature medicine, 2022 - nature.com
Fused in sarcoma (FUS) is an RNA-binding protein that is genetically and pathologically
associated with rare and aggressive forms of amyotrophic lateral sclerosis (ALS) and …

[HTML][HTML] ALS genetics: gains, losses, and implications for future therapies

G Kim, O Gautier, E Tassoni-Tsuchida, XR Ma… - Neuron, 2020 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …

[HTML][HTML] The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

TR Suk, MWC Rousseaux - Molecular neurodegeneration, 2020 - Springer
Since its discovery as a primary component in cytoplasmic aggregates in post-mortem tissue
of patients with Amyotrophic Lateral Sclerosis (ALS), TAR DNA Binding Protein 43 kDa (TDP …

Globally reduced N6-methyladenosine (m6A) in C9ORF72-ALS/FTD dysregulates RNA metabolism and contributes to neurodegeneration

Y Li, X Dou, J Liu, Y Xiao, Z Zhang, L Hayes, R Wu… - Nature …, 2023 - nature.com
Repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD). Here we show that N 6 …

C9orf72-mediated ALS and FTD: multiple pathways to disease

R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

RNA phase transitions in repeat expansion disorders

A Jain, RD Vale - Nature, 2017 - nature.com
Expansions of short nucleotide repeats produce several neurological and neuromuscular
disorders including Huntington disease, muscular dystrophy, and amyotrophic lateral …

[HTML][HTML] On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

AN Khristich, SM Mirkin - Journal of Biological Chemistry, 2020 - ASBMB
Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

RNA G-quadruplexes in biology: principles and molecular mechanisms

MM Fay, SM Lyons, P Ivanov - Journal of molecular biology, 2017 - Elsevier
Abstract G-quadruplexes (G4s) are extremely stable DNA or RNA secondary structures
formed by sequences rich in guanine. These structures are implicated in many essential …