Results 51 to 60 of about 14,543 (225)

Table_2_The repeat length of C9orf72 is associated with the survival of amyotrophic lateral sclerosis patients without C9orf72 pathological expansions.XLSX [PDF]

, 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 ...
Ji He (40669), Yan Ma (88810), Nan Zhang (46264), Lu Tang (655389), Xiaolu Liu (731063), Dongsheng Fan (817016), Lu Chen (75170)   +6 more
core   +1 more source

Concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosis

Life Science Alliance, 2021
Axonal trafficking deficits and neurodegeneration in C9ORF72 motoneurons are mediated by GOF and LOF mechanisms with RNA foci and DPRs as upstream events, whereas DNA damage appears downstream.
Arun Pal, Benedikt Kretner, Masin Abo-Rady, Hannes Glaβ, Banaja P Dash, Marcel Naumann, Julia Japtok, Nicole Kreiter, Ashutosh Dhingra, Peter Heutink, Tobias M Böckers, René Günther, Jared Sterneckert, Andreas Hermann   +13 more
doaj   +1 more source

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

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) and frontotemporal dementia (FTD).
Audrey MG Ragagnin (15824408), Marta Vidal (5331656), Julie Atkin (9493142), Dominic B Rowe (20324970), Sharlynn Wu (20324967), Garth Nicholson (10486580), Kai Ying Soo (19808277), Sonam Parakh (491194), Kunjie Ding (20261418), Shu Yang (381226), Anand Deva (9358509), Emily K Don (15310486), Sayanthooran Saravanabavan (10687609), Sina Shadfar (6885677), Cyril Jones Jagaraj (12309665), Ian Blair (13505113), Jessica Sultana (20324964)   +16 more
core   +1 more source

Additional file 1: of Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers [PDF]

, 2018
Table S1. Demographic, clinical and pathological diagnosis of cases used in this study; Figure S1. Further characterization of novel monoclonal C9orf72 antibodies; Figure S2.
Chieh-Yu Cheng (699537), Nicolas Charlet-Berguerand (607232), Regina Feederle (166063), Chantal Sellier (607229), R. Pasterkamp (3698353), Johannes Prudlo (673079), Julie Tahraoui-Bories (5594678), Mustapha Oulad-Abdelghani (245556), Ian Mackenzie (5472740), Manuela Neumann (120819), Dieter Edbauer (3640348), Cecile Martinat (70805), Petra Frick (4672636)   +12 more
core   +1 more source

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   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia [PDF]

, 2018
International audienceBackground/Aims: The aim of the study was to assess the theory of haploinsufficiency in C9ORF72 expansion carriers, the most frequent causative gene of frontotemporal dementia.
Formaglio, Maité, Sauvée, Mathilde, Latour, Philippe, Bost, Muriel, Fourier, Anthony, Perret-Liaudet, Armand, Quadrio, Isabelle   +6 more
core   +1 more source

C9orf72 Toxic Species Affect ArfGAP-1 Function [PDF]

, 2023
Compelling evidence indicates that defects in nucleocytoplasmic transport contribute to the pathogenesis of amyotrophic lateral sclerosis (ALS). In particular, hexanucleotide (G4C2) repeat expansions in C9orf72, the most common cause of genetic ALS, have
Mauro Cozzolino, Cipressa, Francesca, Nadia D’Ambrosi, Michela Di Salvio, Ivan Arisi, Assia De Simone, Rossi, Simona, Cestra, Gianluca, Nadia D'AMBROSI, Apolloni, Savina, Simona Rossi, Francesca Cipressa, Di Salvio, Michela, Balì, Marilisa, Marilisa Balì, De Simone, Assia, D'Ambrosi, Nadia, Arisi, Ivan, Savina Apolloni, Cozzolino, Mauro, Gianluca Cestra   +20 more
core   +1 more source

Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP‐43 A and B

Annals of Clinical and Translational Neurology
Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations.
Sean Coulborn, Rhiana Schafer, Ashlin R. K. Roy, Andrzej Sokolowski, Noah G. Cryns, Dana Leichter, Argentina Lario Lago, Eliana Marisa Ramos, Yann Cobigo, Salvatore Spina, Lea T. Grinberg, Daniel H. Geschwind, Maria L. Gorno‐Tempini, Joel H. Kramer, Howard J. Rosen, Bruce L. Miller, William W. Seeley, David C. Perry   +17 more
doaj   +1 more source

Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels

Acta Neuropathologica Communications, 2019
A hexanucleotide repeat expansion in a noncoding region of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Shangxi Xiao, Paul M. McKeever, Agnes Lau, Janice Robertson   +3 more
doaj   +1 more source