Selective C9orf72 G-Quadruplex-Binding Small Molecules Ameliorate Pathological Signatures of ALS/FTD Models

A Cheng, C Liu, W Ye, D Huang, W She… - Journal of Medicinal …, 2022 - ACS Publications
The G-quadruplex (G4) forming C9orf72 GGGGCC (G4C2) expanded hexanucleotide repeat
(EHR) is the predominant genetic cause of amyotrophic lateral sclerosis (ALS) and …

G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo

R Simone, R Balendra, TG Moens, E Preza… - EMBO molecular …, 2018 - embopress.org
Intronic GGGGCC repeat expansions in C9orf72 are the most common known cause of
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), which are …

Structural insight into C9orf72 hexanucleotide repeat expansions: Towards new therapeutic targets in FTD-ALS

V Kumar, A Islam, F Ahmad, MI Hassan - Neurochemistry International, 2016 - Elsevier
Hexanucleotide repeat expansions,(G4C2) in the C9orf72 gene are considered as the
single most common genetic cause of both frontotemporal dementia (FTD) and amyotrophic …

Characterizations of distinct parallel and antiparallel G-quadruplexes formed by two-repeat ALS and FTD related GGGGCC sequence

B Zhou, Y Geng, C Liu, H Miao, Y Ren, N Xu, X Shi… - Scientific reports, 2018 - nature.com
The large expansion of GGGGCC (G4C2) repeats of the C9orf72 gene have been found to
lead to the pathogenesis of devastating neurological diseases, amyotrophic lateral sclerosis …

Three-dimensional structure of RNA monomeric G-quadruplex containing ALS and FTD related G4C2 repeat and its binding with TMPyP4 probed by homology …

K Mulholland, HJ Sullivan, J Garner, J Cai… - ACS chemical …, 2019 - ACS Publications
The G-quadruplex-forming hexanucleotide repeat expansion (HRE), d (G4C2) n, within the
human C9orf72 gene is the root cause for familial amyotrophic lateral sclerosis …

Structural features of small molecules targeting the RNA repeat expansion that causes genetically defined ALS/FTD

A Ursu, KW Wang, JA Bush, S Choudhary… - ACS chemical …, 2020 - ACS Publications
Genetically defined amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD),
collectively named c9ALS/FTD, are triggered by hexanucleotide GGGGCC repeat …

Advances in the structure of GGGGCC repeat RNA sequence and its interaction with small molecules and protein partners

X Liu, X Zhao, J He, S Wang, X Shen, Q Liu, S Wang - Molecules, 2023 - mdpi.com
The aberrant expansion of GGGGCC hexanucleotide repeats within the first intron of the
C9orf72 gene represent the predominant genetic etiology underlying amyotrophic lateral …

Topology of a G-quadruplex DNA formed by C9orf72 hexanucleotide repeats associated with ALS and FTD

B Zhou, C Liu, Y Geng, G Zhu - Scientific reports, 2015 - nature.com
Abnormal expansions of an intronic hexanucleotide GGGGCC (G4C2) repeat of the C9orf72
gene are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and …

Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila

ML Atilano, S Grönke, T Niccoli, L Kempthorne, O Hahn… - Elife, 2021 - elifesciences.org
G4C2 repeat expansions within the C9orf72 gene are the most common genetic cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The repeats …

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 …