Results 1 to 10 of about 21,720 (221)

C9ORF72 suppresses JAK-STAT mediated inflammation

iScience, 2023
Summary: Hexanucleotide repeat expansion in the gene C9ORF72 is a leading cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD).
Weilun Pang, Fenghua Hu
doaj   +3 more sources

Characterization of a C9orf72 Knockout Danio rerio model for ALS and cross-species validation of potential therapeutics screened in Caenorhabditis elegans. [PDF]

PLoS ONE
Intronic hexanucleotide repeat expansions in the C9orf72 gene represent the most common genetic cause of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia.
Alexandre Emond, Carl Laflamme, Martine Therrien, Meijiang Liao, Claudia Maios, Audrey Labarre, Pierre Drapeau, J Alex Parker   +7 more
doaj   +2 more sources

Loss of C9orf72 impacts the peripheral neuromuscular system via immune dysregulation and accelerates the progression of amyotrophic lateral sclerosis in SOD-1 mutant mice [PDF]

Journal of Neuroinflammation
Background Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder where neuromuscular health is central to disease progression.
Francesca Sironi, Massimo Tortarolo, Sabrina Mazzucchi, Laura Camporeale, Mattia Freschi, Eliana Arcadipane, Giulia De Giovanetti, Mami Kurosaki, Mineko Terao, Paola Parlanti, Paola Podini, Francesco Gentile, Valentina Bonetto, Valentina Cappello, Nilo Riva, Angelo Quattrini, Caterina Bendotti   +16 more
doaj   +2 more sources

C9ORF72 Is Pivotal to Maintain a Proper Protein Homeostasis in Mouse Skeletal Muscle [PDF]

Cells
The C9ORF72 gene mutation is a major cause of amyotrophic lateral sclerosis (ALS). Disease mechanisms involve both loss of C9ORF72 protein function and toxic effects from hexanucleotide repeat expansions.
Francesca Sironi, Paola Parlanti, Cassandra Margotta, Jessica Cassarà, Valentina Bonetto, Caterina Bendotti, Massimo Tortarolo, Valentina Cappello   +7 more
doaj   +2 more sources

Inducible expression of human C9ORF72 36× G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice

Disease Models & Mechanisms, 2021
The hexanucleotide G4C2 repeat expansion in the first intron of the C9ORF72 gene accounts for the majority of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) cases.
Fréderike W. Riemslagh, Esmay C. van der Toorn, Rob F. M. Verhagen, Alex Maas, Laurens W. J. Bosman, Renate K. Hukema, Rob Willemsen   +6 more
doaj   +1 more source

Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos

Disease Models & Mechanisms, 2021
The hexanucleotide (G4C2)-repeat expansion in the C9ORF72 gene is the most common pathogenic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
Fréderike W. Riemslagh, Rob F. M. Verhagen, Esmay C. van der Toorn, Daphne J. Smits, Wim H. Quint, Herma C. van der Linde, Tjakko J. van Ham, Rob Willemsen   +7 more
doaj   +1 more source

TFEB/Mitf links impaired nuclear import to autophagolysosomal dysfunction in C9-ALS

eLife, 2020
Disrupted nucleocytoplasmic transport (NCT) has been implicated in neurodegenerative disease pathogenesis; however, the mechanisms by which disrupted NCT causes neurodegeneration remain unclear.
Kathleen M Cunningham, Kirstin Maulding, Kai Ruan, Mumine Senturk, Jonathan C Grima, Hyun Sung, Zhongyuan Zuo, Helen Song, Junli Gao, Sandeep Dubey, Jeffrey D Rothstein, Ke Zhang, Hugo J Bellen, Thomas E Lloyd   +13 more
doaj   +1 more source

Motor Neuron Generation from iPSCs from Identical Twins Discordant for Amyotrophic Lateral Sclerosis

Cells, 2020
Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disorder characterized by the loss of the upper and lower motor neurons. Approximately 10% of cases are caused by specific mutations in known genes, with the remaining cases having no ...
Emily R. Seminary, Stephanie Santarriaga, Lynn Wheeler, Marie Mejaki, Jenica Abrudan, Wendy Demos, Michael T. Zimmermann, Raul A. Urrutia, Dominic Fee, Paul E. Barkhaus, Allison D. Ebert   +10 more
doaj   +1 more source

The repeat length of C9orf72 is associated with the survival of amyotrophic lateral sclerosis patients without C9orf72 pathological expansions

Frontiers in Neurology, 2022
ObjectiveTo explore whether the repeat lengths of the chromosome 9 open reading frame 72 (C9orf72) gene and the ataxin-2 (ATXN2) gene in amyotrophic lateral sclerosis (ALS) patients without C9orf72 repeat expansions confer a risk of ALS or survival ...
Lu Tang, Lu Tang, Lu Tang, Lu Chen, Lu Chen, Lu Chen, Xiaolu Liu, Xiaolu Liu, Xiaolu Liu, Ji He, Ji He, Ji He, Yan Ma, Yan Ma, Yan Ma, Nan Zhang, Nan Zhang, Nan Zhang, Dongsheng Fan, Dongsheng Fan, Dongsheng Fan   +20 more
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Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling. [PDF]

PLoS Genetics, 2016
The most common cause of the neurodegenerative diseases amyotrophic lateral sclerosis and frontotemporal dementia is a hexanucleotide repeat expansion in C9orf72.
Janet Ugolino, Yon Ju Ji, Karen Conchina, Justin Chu, Raja Sekhar Nirujogi, Akhilesh Pandey, Nathan R Brady, Anne Hamacher-Brady, Jiou Wang   +8 more
doaj   +1 more source