A small molecule exploits hidden structural features within the RNA repeat expansion that causes c9ALS/FTD and rescues pathological hallmarks

A Ursu, JT Baisden, JA Bush, A Taghavi… - ACS chemical …, 2021 - ACS Publications
The hexanucleotide repeat expansion GGGGCC [r (G4C2) exp] within intron 1 of C9orf72
causes genetically defined amyotrophic lateral sclerosis and frontotemporal dementia …

The promoter region of the proto-oncogene MST1R contains the main features of G-quadruplexes formation

C Robert, J Marquevielle, GF Salgado - International Journal of Molecular …, 2022 - mdpi.com
MST1R (RON) is a receptor of the MET tyrosine kinase receptor family involved in several
cancers such as pancreas, breast, ovary, colon, and stomach. Some studies have shown …

Crystal structure of parallel G-quadruplex formed by the two-repeat ALS-and FTD-related GGGGCC sequence

Y Geng, C Liu, Q Cai, Z Luo, H Miao, X Shi… - Nucleic Acids …, 2021 - academic.oup.com
The hexanucleotide repeat expansion, GGGGCC (G4C2), within the first intron of the
C9orf72 gene is known to be the most common genetic cause of both amyotrophic lateral …

Antisense RNA C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds …

L Błaszczyk, M Ryczek, B Das… - Nucleic Acids …, 2024 - academic.oup.com
The abnormal expansion of GGGGCC/GGCCCC hexanucleotide repeats (HR) in C9orf72 is
associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) …

The effects of molecular crowding and CpG hypermethylation on DNA G-quadruplexes formed by the C9orf72 nucleotide repeat expansion

KA Ozcan, LT Ghaffari, AR Haeusler - Scientific Reports, 2021 - nature.com
A nucleotide repeat expansion (NRE),(G4C2) n, located in a classically noncoding region of
C9orf72 (C9), is the most common genetic mutation associated with ALS/FTD. There is …

Understanding the relationship between cerebellum and the frontal-cortex region of C9orf72-related amyotrophic lateral sclerosis: A comparative analysis of genetic …

K Prasad, MI Hassan, S Raghuvanshi, V Kumar - Plos one, 2024 - journals.plos.org
Background Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive and fatal
neurodegenerative diseases for which at present no cure is available. Despite the extensive …

G-quadruplex structures formed by human telomeric DNA and C9orf72 hexanucleotide repeats

C Liu, Y Geng, H Miao, X Shi, Y You, N Xu, B Zhou… - Biophysical …, 2019 - Springer
DNA or RNA strands that are composed stretches of guanines (G-tracts) divided by other
bases are able to form G-quadruplexes, a tetra-helical structure with stacked G-tetrad planes …

Amyotrophic lateral sclerosis: current therapeutic perspectives

V Kumar, T Kashav, MI Hassan - Pathology, prevention and therapeutics …, 2019 - Springer
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, characterized by
progressive motor neuron degeneration, muscle weakness, paralysis, and ultimately death …

[HTML][HTML] The parallel tetrameric DNA G-quadruplex formed by the two-repeat C9orf72 GGGGCC sequence in solution

C Liu, B Zhou, N Xu, CP Fung, B Yan, MC Suen… - Magnetic Resonance …, 2022 - Elsevier
The abnormal expansion of G-rich hexanucleotide repeat, GGGGCC (G4C2), in
chromosome 9 open reading frame 72 (C9orf72) is known to be the prevailing genetic cause …

Delineating the aggregation-prone hotspot regions (peptides) in the human Cu/Zn superoxide dismutase 1

Wahiduzzaman, V Kumar, F Anjum, A Shafie… - ACS …, 2021 - ACS Publications
Amyotrophic lateral sclerosis (ALS) is a fatal, incurable neurodegenerative disease
described by progressive degeneration of motor neurons. The most common familial form of …