Results 61 to 70 of about 21,720 (221)

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

FUS mutant human motoneurons display altered transcriptome and microRNA pathways with implications for ALS pathogenesis [PDF]

, 2017
The FUS gene has been linked to amyotrophic lateral sclerosis (ALS). FUS is a ubiquitous RNA-binding protein, and the mechanisms leading to selective motoneuron loss downstream of ALS-linked mutations are largely unknown.
Alfano, Vincenzo, Bozzoni, Irene, Colantoni, Alessio, DE SANTIS, Riccardo, DE TURRIS, Valeria, Peruzzi, Giovanna, Rosa, Alessandro, Santini, Laura   +7 more
core   +2 more sources

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Loss of C9orf72 function leads to autoimmunity [PDF]

Annals of Translational Medicine, 2017
A widely held view for the etiology of autoimmune diseases is that environmental factors combined with a proper genetic background can cause the disease. Rare monogenic diseases with autoimmune manifestations combined with new technologies, such as whole exon genomic sequencing, has unearthed fascinating mechanisms of autoimmune diseases.
Sakkas, L.I., Bogdanos, D.P., Kousvelari, E.E.   +2 more
openaire   +3 more sources

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

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

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons. [PDF]

, 2016
Intronic hexanucleotide expansions in C9ORF72 are common in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, but it is unknown whether loss of function, toxicity by the expanded RNA or dipeptides from non-ATG-initiated translation are ...
A Burberry, A Michalski, AE Renton, AR Haeusler, BJ Agnew, C Lagier-Tourenne, CJ Donnelly, D Hornburg, D Zhang, DJ Hernández-Deviez, E Majounie, E Sudria-Lopez, EC Keilhauer, EH Franssen, F Tronche, H Radhakrishna, I Gijselinck, J Cox, J Cox, J Cox, J Japtok, J Jiang, J Rappsilber, JG O'Rourke, JJ Bravo-Cordero, K Mori, K Moriyama, K Nunoue, KC Flynn, LA Cingolani, LC Santy, M Bourmoum, M DeJesus-Hernandez, M Fischer, M Innocenti, M Innocenti, M Koppers, M Therrien, MA Farg, ML Rogers, N Subramanian, N Wächter, N Yang, O Al-Awar, O Bernard, P Fratta, P Reinhardt, P Reinhardt, PM Sullivan, R Götz, S Ciura, S Iden, S Jablonka, S Lewis-Saravalli, S May, S Stern, S Tyanova, S Wiese, SC Ling, T Zu, TP Levine, W Huang, X Lojewski, X Wen   +63 more
core   +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

Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort.

PLoS ONE, 2018
BACKGROUND:The GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in several European populations. The objective of this study was to determine the
Shima Mehrabian, Håkan Thonberg, Margarita Raycheva, Lena Lilius, Katya Stoyanova, Charlotte Forsell, Lena Cavallin, Desislava Nesheva, Eric Westman, Draga Toncheva, Latchezar Traykov, Bengt Winblad, Caroline Graff   +12 more
doaj   +1 more source

Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit

Neurology and Therapy, 2023
A summit held March 2023 in Scottsdale, Arizona (USA) focused on the intronic hexanucleotide expansion in the C9ORF72 gene and its relevance in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS; C9ORF72-FTD/ALS).
Rita Sattler, Bryan J. Traynor, Janice Robertson, Ludo Van Den Bosch, Sami J. Barmada, Clive N. Svendsen, Matthew D. Disney, Tania F. Gendron, Philip C. Wong, Martin R. Turner, Adam Boxer, Suma Babu, Michael Benatar, Michael Kurnellas, Jonathan D. Rohrer, Christopher J. Donnelly, Lynette M. Bustos, Kendall Van Keuren-Jensen, Penny A. Dacks, Marwan N. Sabbagh, Attendees of the inaugural C9ORF72 FTD/ALS Summit   +20 more
doaj   +1 more source