[HTML][HTML] 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 …

[HTML][HTML] Nearly 30 years of animal models to study amyotrophic lateral sclerosis: a historical overview and future perspectives

T Bonifacino, RA Zerbo, M Balbi, C Torazza… - International journal of …, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a fatal, multigenic, multifactorial, and non-cell
autonomous neurodegenerative disease characterized by upper and lower motor neuron …

Cellular and physiological functions of C9ORF72 and implications for ALS/FTD

W Pang, F Hu - Journal of neurochemistry, 2021 - Wiley Online Library
The hexanucleotide repeat expansion (HRE) in the C9ORF72 gene is the main cause of two
tightly linked neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and …

[HTML][HTML] Synaptic dysfunction in ALS and FTD: Anatomical and molecular changes provide insights into mechanisms of disease

PA Gelon, PA Dutchak, CF Sephton - Frontiers in Molecular …, 2022 - frontiersin.org
Synaptic loss is a pathological feature of all neurodegenerative diseases including
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ALS is a disease of …

[HTML][HTML] Activation of IGF-1/GLP-1 signalling via 4-hydroxyisoleucine prevents motor neuron impairments in experimental ALS-rats exposed to methylmercury-induced …

A Shandilya, S Mehan, S Kumar, P Sethi, AS Narula… - Molecules, 2022 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a severe adult motor neuron disease that causes
progressive neuromuscular atrophy, muscle wasting, weakness, and depressive-like …

[PDF][PDF] Human amyotrophic lateral sclerosis excitability phenotype screen: Target discovery and validation

X Huang, KCD Roet, L Zhang, A Brault, AP Berg… - Cell reports, 2021 - cell.com
Drug development is hampered by poor target selection. Phenotypic screens using neurons
differentiated from patient stem cells offer the possibility to validate known and discover …

[HTML][HTML] C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice

MB Lopez-Herdoiza, S Bauché, B Wilmet… - Frontiers in Cellular …, 2023 - frontiersin.org
The GGGGCC intronic repeat expansion within C9ORF72 is the most common genetic
cause of ALS and FTD. This mutation results in toxic gain of function through accumulation …

[HTML][HTML] Pathological insights from amyotrophic lateral sclerosis animal models: comparisons, limitations, and challenges

L Zhu, S Li, XJ Li, P Yin - Translational Neurodegeneration, 2023 - Springer
In order to dissect amyotrophic lateral sclerosis (ALS), a multigenic, multifactorial, and
progressive neurodegenerative disease with heterogeneous clinical presentations …

Current Therapy in Amyotrophic lateral sclerosis (ALS): a review on Past and Future Therapeutic Strategies

Y Wei, S Zhong, H Yang, X Wang, B Lv, Y Bian… - European Journal of …, 2024 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects the first
and second motoneurons (MNs), associated with muscle weakness, paralysis and finally …

Guggulsterone Selectively Modulates STAT-3, mTOR, and PPAR-Gamma Signaling in a Methylmercury-Exposed Experimental Neurotoxicity: Evidence from CSF …

S Kumar, S Mehan, Z Khan, G Das Gupta… - Molecular …, 2024 - Springer
Amyotrophic lateral sclerosis (ALS) is a paralytic disease that damages the brain and spinal
cord motor neurons. Several clinical and preclinical studies have found that methylmercury …