G-Quadruplexes as pathogenic drivers in neurodegenerative disorders

E Wang, R Thombre, Y Shah, R Latanich… - Nucleic acids …, 2021 - academic.oup.com
Abstract G-quadruplexes (G4s), higher-order DNA and RNA secondary structures featuring
guanine-rich nucleic acid sequences with various conformations, are widely distributed in …

G-quadruplexes in viruses: function and potential therapeutic applications

M Métifiot, S Amrane, S Litvak… - Nucleic acids …, 2014 - academic.oup.com
G-rich nucleic acids can form non-canonical G-quadruplex structures (G4s) in which four
guanines fold in a planar arrangement through Hoogsteen hydrogen bonds. Although many …

Prevalence of quadruplexes in the human genome

JL Huppert, S Balasubramanian - Nucleic acids research, 2005 - academic.oup.com
Guanine-rich DNA sequences of a particular form have the ability to fold into four-stranded
structures called G-quadruplexes. In this paper, we present a working rule to predict which …

Repeat instability during DNA repair: Insights from model systems

K Usdin, NCM House… - Critical reviews in …, 2015 - Taylor & Francis
The expansion of repeated sequences is the cause of over 30 inherited genetic diseases,
including Huntington disease, myotonic dystrophy (types 1 and 2), fragile X syndrome, many …

Advances in mechanisms of genetic instability related to hereditary neurological diseases

RD Wells, R Dere, ML Hebert, M Napierala… - Nucleic acids …, 2005 - academic.oup.com
Substantial progress has been realized in the past several years in our understanding of the
molecular mechanisms responsible for the expansions and deletions (genetic instabilities) …

Expanded repeat in canine epilepsy

H Lohi, EJ Young, SN Fitzmaurice, C Rusbridge… - Science, 2005 - science.org
Epilepsy afflicts 1% of humans and 5% of dogs. We report a canine epilepsy mutation and
evidence for the existence of repeat-expansion disease outside humans. A canid-specific …

Molecular crowding creates an essential environment for the formation of stable G-quadruplexes in long double-stranded DNA

K Zheng, Z Chen, Y Hao, Z Tan - Nucleic acids research, 2010 - academic.oup.com
Large numbers of guanine-rich sequences with potential to form G-quadruplexes have been
identified in genomes of various organisms. Such sequences are constrained at both ends …

[PDF][PDF] Tetraplex DNA and its interacting proteins

M Fry - Front Biosci, 2007 - researchgate.net
Introduction 3. Biological significance of tetraplex DNA 3.1. Evidence for the existence of
tetraplex DNA in vivo 3.2. Proposed biological roles of tetraplex DNA. 3.2. 1. Functions in the …

The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence

JD Cleary, CE Pearson - Cytogenetic and genome research, 2003 - karger.com
Alterations in the length (instability) of gene-specific microsatellites and minisatellites are
associated with at least 35 human diseases. This review will discuss the various cis …

Molecular background of EPM1—Unverricht–Lundborg disease

T Joensuu, AE Lehesjoki, O Kopra - Epilepsia, 2008 - Wiley Online Library
Summary Unverricht–Lundborg disease (EPM1) is an autosomal recessively inherited
neurodegenerative disorder and the most common single cause of progressive myoclonus …