Results 1 to 10 of about 9,567 (139)

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers [PDF]

Acta Neuropathologica Communications, 2018
Hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis, but the pathogenic mechanism of this mutation remains unresolved.
Petra Frick, Chantal Sellier, Ian R. A. Mackenzie, Chieh-Yu Cheng, Julie Tahraoui-Bories, Cecile Martinat, R. Jeroen Pasterkamp, Johannes Prudlo, Dieter Edbauer, Mustapha Oulad-Abdelghani, Regina Feederle, Nicolas Charlet-Berguerand, Manuela Neumann   +12 more
doaj   +2 more sources

New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers

Frontiers in Neuroscience, 2018
Frontotemporal dementia (FTD) is a fatal neurodegenerative disease characterized by behavioral and language disorders. The main genetic cause of FTD is an intronic hexanucleotide repeat expansion (G4C2)n in the C9ORF72 gene.
Arthur Viodé, Clémence Fournier, Clémence Fournier, Agnès Camuzat, Agnès Camuzat, François Fenaille, NeuroCEB Brain Bank, Morwena Latouche, Morwena Latouche, Fanny Elahi, Isabelle Le Ber, Isabelle Le Ber, Isabelle Le Ber, Christophe Junot, Foudil Lamari, Foudil Lamari, Vincent Anquetil, Vincent Anquetil, François Becher, Franck Letournel, Anne Vital, Françoise Chapon, Catherine Godfraind, Claude-Alain Maurage, Vincent Deramecourt, David Meyronnet, Nathalie Streichenberger, André Maues de Paula, Valérie Rigau, Fanny Vandenbos-Burel, Charles Duyckaerts, Danielle Seilhean, Véronique Sazdovitch, Serge Milin, Dan Christian Chiforeanu, Annie Laquerrière, Béatrice Lannes   +36 more
doaj   +3 more sources

C9orf72 protein quality control by UBR5 ‐mediated heterotypic ubiquitin chains [PDF]

EMBO Reports, 2023
Julia Julg, Dieter Edbauer, Christian Behrends   +2 more
exaly   +2 more sources

Systematic proteomics reveals plasma NEFL as a robust predictor and pathological associate in C9ORF72-related neurodegeneration [PDF]

Frontiers in Aging Neuroscience
BackgroundThe C9ORF72 repeat expansion is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). While neurofilament light chain (NEFL) is an established biomarker of neuroaxonal damage, its specific dose ...
Zhen Hu, Zhen Hu, Jing-jin Wan, Qin-qin Yan, Yu Fan, Jun Liu   +5 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

Reduced C9orf72 expression exacerbates polyGR toxicity in patient iPSC-derived motor neurons and a Type I protein arginine methyltransferase inhibitor reduces that toxicity

Frontiers in Cellular Neuroscience, 2023
IntroductionIntronic repeat expansions in the C9orf72 gene are the most frequent known single genetic causes of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These repeat expansions are believed to result in both loss-of-function
Therese L. Dane, Anna L. Gill, Fernando G. Vieira, Kyle R. Denton   +3 more
doaj   +3 more sources

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   +1 more source

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

Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients

Antioxidants, 2022
The objective of this study is to describe the alterations occurring during the neurodegenerative process in skin fibroblast cultures from C9orf72 patients.
Maria Isabel Alvarez-Mora, Gloria Garrabou, Tamara Barcos, Francisco Garcia-Garcia, Ruben Grillo-Risco, Emma Peruga, Laura Gort, Sergi Borrego-Écija, Raquel Sanchez-Valle, Judith Canto-Santos, Paula Navarro-Navarro, Laia Rodriguez-Revenga   +11 more
doaj   +1 more source

C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor [PDF]

PeerJ, 2018
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two late onset neurodegenerative diseases, have been shown to share overlapping cellular pathologies and genetic origins. Studies suggest that a hexanucleotide repeat expansion in the
Shalini Iyer, Vasanta Subramanian, K. Ravi Acharya   +2 more
doaj   +2 more sources