Results 11 to 20 of about 16,368 (183)

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   +2 more sources

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

Neuronal Transcriptome from C9orf72 Repeat Expanded Human Tissue is Associated with Loss of C9orf72 Function [PDF]

Free Neuropathology, 2020
A hexanucleotide G4C2 repeat expansion in C9orf72 is the most common genetic cause of familial and sporadic cases of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD). The mutation is associated with a reduction of C9orf72 protein
Elaine Y. Liu, Jenny Russ, Edward B. Lee
doaj   +2 more sources

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

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   +3 more sources

Longitudinal functional network connectivity changes across the clinical stages of C9orf72 hexanucleotide repeat expansion carriers. [PDF]

Alzheimers Dement
Abstract INTRODUCTION Intrinsic functional connectivity network abnormalities in C9orf72 hexanucleotide repeat expansion carriers emerge during the asymptomatic phase, yet longitudinal studies remain limited. We examined cross‐sectional abnormalities and longitudinal connectivity changes across clinical stages.
Zhang L, Häkkinen S, Jung Y, Mandelli ML, Leichter D, Onyike CU, Rojas JC, Lombardi J, Gorno-Tempini ML, Yokoyama JS, Sturm VE, Kramer J, Boeve BF, Boxer AL, Forsberg LK, Heuer HW, Kantarci K, Ramos EM, Rosen HJ, Miller BL, Seeley WW, Flagan TM, Lee SE, ARTFL/LEFFTDS/ALLFTD Consortia.   +23 more
europepmc   +2 more sources

Multivariate Survival Analysis of a Comprehensive Clinical Trial of Rapamycin in Amyotrophic Lateral Sclerosis Explores Prognostic Factors and Survival Patterns in C9orf72 Carriers. [PDF]

Eur J Neurol
We performed survival analysis on data from RAP‐ALS, a clinical trial investigating the effects of rapamycin on amyotrophic lateral sclerosis patients. We confirmed the prognostic role of factors such as neurofilament, ALSFRS‐R, and creatinine, and we explored late‐stage risk factors (e.g., neutrophil‐to‐lymphocyte ratio) by modeling time‐varying ...
De Nardi A, Paris A, Lauria M, Martinelli I, Zucchi E, Simonini C, Mandrioli J, Marchetti L.   +7 more
europepmc   +2 more sources

Genetic ALS-Progressive Sleep Defects Precede the Onset of Clinical Disease. [PDF]

Eur J Neurol
Sleep disturbances in people carrying ALS‐causing gene mutations progressively worsen years before motor symptoms appear. These sleep abnormalities appear to progress regardless of how close individuals are to developing clinical ALS. Thus, polysomnography‐derived sleep measures could serve as sensitive, noninvasive biomarkers for tracking preclinical ...
Lang C, Guillot SJ, Knehr A, Weydt P, Dorst J, Tumani H, Ludolph AC, Dupuis L, Bolborea M.   +8 more
europepmc   +2 more sources

Moderate intrinsic phenotypic alterations in C9orf72 ALS/FTD iPSC-microglia despite the presence of C9orf72 pathological features [PDF]

Frontiers in Cellular Neuroscience, 2023
While motor and cortical neurons are affected in C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD), it remains largely unknown if and how non-neuronal cells induce or exacerbate neuronal damage. We differentiated C9orf72 ALS/FTD
Ileana Lorenzini, Eric Alsop, Jennifer Levy, Lauren M. Gittings, Deepti Lall, Benjamin E. Rabichow, Stephen Moore, Stephen Moore, Ryan Pevey, Ryan Pevey, Lynette M. Bustos, Lynette M. Bustos, Camelia Burciu, Divya Bhatia, Mo Singer, Justin Saul, Amanda McQuade, Amanda McQuade, Amanda McQuade, Makis Tzioras, Makis Tzioras, Thomas A. Mota, Amber Logemann, Jamie Rose, Jamie Rose, Sandra Almeida, Fen-Biao Gao, Michael Marks, Christopher J. Donnelly, Elizabeth Hutchins, Shu-Ting Hung, Justin Ichida, Robert Bowser, Tara Spires-Jones, Tara Spires-Jones, Mathew Blurton-Jones, Mathew Blurton-Jones, Mathew Blurton-Jones, Tania F. Gendron, Tania F. Gendron, Robert H. Baloh, Robert H. Baloh, Kendall Van Keuren-Jensen, Rita Sattler   +43 more
doaj   +2 more sources

Investigations into the cellular function of C9orf72 [PDF]

, 2016
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by degeneration of the upper and lower motor neurons. Cognitive impairment in ALS is common and as such ALS and frontotemporal dementia (FTD) now constitute a spectrum
Webster, Christopher
core   +6 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