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 …

Small junction, big problems: Neuromuscular junction pathology in mouse models of amyotrophic lateral sclerosis (ALS)

A Alhindi, I Boehm, H Chaytow - Journal of anatomy, 2022 - Wiley Online Library
Amyotrophic lateral sclerosis (ALS) is a motor neuron disease with an extremely
heterogeneous clinical and genetic phenotype. In our efforts to find therapies for ALS, the …

Proteostatic imbalance and protein spreading in amyotrophic lateral sclerosis

ME Cicardi, L Marrone, M Azzouz, D Trotti - The EMBO journal, 2021 - embopress.org
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder whose exact
causative mechanisms are still under intense investigation. Several lines of evidence …

C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels

J Beckers, AK Tharkeshwar, P Van Damme - Autophagy, 2021 - Taylor & Francis
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two clinically
distinct classes of neurodegenerative disorders. Yet, they share a range of genetic, cellular …

KIF5A-dependent axonal transport deficiency disrupts autophagic flux in trimethyltin chloride-induced neurotoxicity

M Liu, H Pi, Y Xi, L Wang, L Tian, M Chen, J Xie… - Autophagy, 2021 - Taylor & Francis
Trimethyltin chloride (TMT) is widely used as a constituent of fungicides and plastic
stabilizers in the industrial and agricultural fields, and is generally acknowledged to have …

Integrated network pharmacology approach shows a potential role of Ginseng catechins and ginsenosides in modulating protein aggregation in Amyotrophic Lateral …

RS Swaroop, SS Pradhan, VMD Darshan… - 3 Biotech, 2022 - Springer
Amyotrophic lateral Sclerosis is an incurable, progressive neurodegenerative motor neuron
disease. The disease is characterized by protein aggregates. The symptoms include …

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 …

C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease

JL Goodier, AO Soares, GC Pereira, LR DeVine… - Acta Neuropathologica …, 2020 - Springer
A pathogenic GGGCCC hexanucleotide expansion in the first intron/promoter region of the
C9orf72 gene is the most common mutation associated with amyotrophic lateral sclerosis …

Synaptopathy mechanisms in ALS caused by C9orf72 repeat expansion

AL Nishimura, N Arias - Frontiers in cellular neuroscience, 2021 - frontiersin.org
Amyotrophic Lateral Sclerosis (ALS) is a complex neurodegenerative disease caused by
degeneration of motor neurons (MNs). ALS pathogenic features include accumulation of …

Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture

J Nörpel, S Cavadini, AD Schenk, A Graff-Meyer… - PLoS …, 2021 - journals.plos.org
A major cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia
(FTD) spectrum disorder is the hexanucleotide G4C2 repeat expansion in the first intron of …