Molecular mechanisms underlying nucleotide repeat expansion disorders
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 …
of these repeat tracts underlies over fifty human disorders, including common genetic …
ALS genetics, mechanisms, and therapeutics: where are we now?
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …
as the number of genes associated with the disease risk and pathogenesis, and the cellular …
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 …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
Quadruplex nucleic acids as novel therapeutic targets
S Neidle - Journal of medicinal chemistry, 2016 - ACS Publications
Quadruplex-forming sequences are widely prevalent in human and other genomes,
including bacterial ones. These sequences are over-represented in eukaryotic telomeres …
including bacterial ones. These sequences are over-represented in eukaryotic telomeres …
RNA G-quadruplexes in biology: principles and molecular mechanisms
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 …
formed by sequences rich in guanine. These structures are implicated in many essential …
State of play in amyotrophic lateral sclerosis genetics
Considerable progress has been made in unraveling the genetic etiology of amyotrophic
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …
C9ORF72: what it is, what it does, and why it matters
J Smeyers, EG Banchi, M Latouche - Frontiers in cellular …, 2021 - frontiersin.org
When the non-coding repeat expansion in the C9ORF72 gene was discovered to be the
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
AR Haeusler, CJ Donnelly, G Periz, EAJ Simko… - Nature, 2014 - nature.com
A hexanucleotide repeat expansion (HRE),(GGGGCC) n, in C9orf72 is the most common
genetic cause of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and …
genetic cause of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and …
[HTML][HTML] RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention
CJ Donnelly, PW Zhang, JT Pham, AR Haeusler… - Neuron, 2013 - cell.com
A hexanucleotide GGGGCC repeat expansion in the noncoding region of the C9ORF72
gene is the most common genetic abnormality in familial and sporadic amyotrophic lateral …
gene is the most common genetic abnormality in familial and sporadic amyotrophic lateral …
Properties and biological impact of RNA G-quadruplexes: from order to turmoil and back
P Kharel, G Becker, V Tsvetkov… - Nucleic acids research, 2020 - academic.oup.com
Abstract Guanine-quadruplexes (G4s) are non-canonical four-stranded structures that can
be formed in guanine (G) rich nucleic acid sequences. A great number of G-rich sequences …
be formed in guanine (G) rich nucleic acid sequences. A great number of G-rich sequences …