Microglia and astrocytes in amyotrophic lateral sclerosis: disease-associated states, pathological roles, and therapeutic potential

J You, MMM Youssef, JR Santos, J Lee, J Park - Biology, 2023 - mdpi.com
Simple Summary Amyotrophic lateral sclerosis (ALS) is a disease characterized by the
death of motor neurons that results in progressive muscle weakness and paralysis …

Brain–body mechanisms contribute to sexual dimorphism in amyotrophic lateral sclerosis

SM Jacob, S Lee, SH Kim, KA Sharkey… - Nature Reviews …, 2024 - nature.com
Amyotrophic lateral sclerosis (ALS) is the most common form of human motor neuron
disease. It is characterized by the progressive degeneration of upper and lower motor …

[HTML][HTML] NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility

AM Gleixner, BM Verdone, CG Otte… - Nature …, 2022 - nature.com
Abstract A G4C2 hexanucleotide repeat expansion in the C9orf72 gene is the most common
genetic cause of ALS and FTLD (C9-ALS/FTLD) with cytoplasmic TDP-43 inclusions …

PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons

C Milioto, M Carcolé, A Giblin, R Coneys, O Attrebi… - Nature …, 2024 - nature.com
Dipeptide repeat proteins are a major pathogenic feature of C9orf72 amyotrophic lateral
sclerosis (C9ALS)/frontotemporal dementia (FTD) pathology, but their physiological impact …

Poly-GR repeats associated with ALS/FTD gene C9ORF72 impair translation elongation and induce a ribotoxic stress response in neurons

D Dong, Z Zhang, Y Li, MJ Latallo, S Wang… - Science …, 2024 - science.org
Hexanucleotide repeat expansion in the C9ORF72 gene is the most frequent inherited
cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The …

The effect of dipeptide repeat proteins on FUS/TDP43-RNA condensation in C9orf72 ALS/FTD

MD Driver, J Postema, PR Onck - The Journal of Physical …, 2024 - ACS Publications
Condensation of RNA binding proteins (RBPs) with RNA is essential for cellular function.
The most common familial cause of the diseases ALS and FTD is C9orf72 repeat expansion …

Metformin ameliorates mitochondrial damage induced by C9orf72 poly (GR) via upregulating AKT phosphorylation

Y Feng, Z Xu, H Jin, Y Chen, C Fu… - Journal of Cellular …, 2024 - Wiley Online Library
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are devastating
neurodegenerative diseases with no effective cure. GGGGCC repeat expansion in C9orf72 …

Glucose hypometabolism prompts RAN translation and exacerbates C9orf72-related ALS/FTD phenotypes

AT Nelson, ME Cicardi, SS Markandaiah, JYS Han… - EMBO …, 2024 - embopress.org
The most prevalent genetic cause of both amyotrophic lateral sclerosis and frontotemporal
dementia is a (GGGGCC) n nucleotide repeat expansion (NRE) occurring in the first intron of …

Role of C9orf72 hexanucleotide repeat expansions in ALS/FTD pathogenesis

Y Geng, Q Cai - Frontiers in Molecular Neuroscience, 2024 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are progressive
neurological disorders that share neurodegenerative pathways and features. The most …

C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-Golgi Vesicular Trafficking, Inducing Golgi Fragmentation and ER Stress, in ALS/FTD

J Sultana, AMG Ragagnin, S Parakh… - Molecular …, 2024 - Springer
Hexanucleotide repeat expansions (HREs) in the chromosome 9 open reading frame 72
(C9orf72) gene are the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) …