Results 31 to 40 of about 21,720 (221)

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins [PDF]

, 2014
An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is whether toxicity is driven by the repeat RNA itself and/or by dipeptide repeat proteins ...
Cabecinha, M, Clayton, EL, Cleverley, K, Devoy, A, Dols, J, Fisher, EMC, Fratta, P, Grönke, S, Hendrich, O, Isaacs, AM, Mizielinska, S, Moens, T, Niccoli, T, Nicoll, AJ, Norona, FE, Partridge, L, Pickering-Brown, S, Pietrzyk, J, Ridler, CE, Woollacott, IOC   +19 more
core   +1 more source

C9ORF72in Dementia with Lewy bodies [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2014
Recent studies have shown that a large hexanucleotide expansion in C9ORF72 is the most common cause of inherited Frontotemporal Lobar Degeneration (FTLD) and Motor Neuron Disease (MND).1 In pathological terms, expansion carriers show a distinctive molecular signature within the dentate gyrus granule cells and CA4 pyramidal cells of the hippocampus and ...
Robinson, Andrew, Davidson, Yvonne, Snowden, Julie S, Mann, David M A   +3 more
openaire   +2 more sources

Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins

Stem Cell Reports, 2020
Summary: In amyotrophic lateral sclerosis (ALS) motor neurons (MNs) undergo dying-back, where the distal axon degenerates before the soma. The hexanucleotide repeat expansion (HRE) in C9ORF72 is the most common genetic cause of ALS, but the mechanism of ...
Masin Abo-Rady, Norman Kalmbach, Arun Pal, Carina Schludi, Antje Janosch, Tanja Richter, Petra Freitag, Marc Bickle, Anne-Karin Kahlert, Susanne Petri, Stefan Stefanov, Hannes Glass, Selma Staege, Walter Just, Rajat Bhatnagar, Dieter Edbauer, Andreas Hermann, Florian Wegner, Jared L. Sterneckert   +18 more
doaj   +1 more source

Pathologic expansion in the C9orf72 gene is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis

Annals of Medicine, 2021
Introduction Respiratory insufficiency is the main cause of death in amyotrophic lateral sclerosis (ALS). As the C9orf72 repeat expansion represents the most common genetic risk factor for this disease, we studied whether C9orf72 modulates respiratory ...
Gabriel Miltenberger-Miltenyi, Vasco A. Conceição, Marta Gromicho, Ana Catarina Pronto-Laborinho, Susana Pinto, Mamede de Carvalho   +5 more
doaj   +1 more source

CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity. [PDF]

, 2018
Hexanucleotide-repeat expansions in the C9ORF72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD).
A Berson, A Jovičić, AA Dominguez, Aaron D. Gitler, AC Elden, AD Gitler, AD Gitler, AD Gitler, AE Renton, AM Jablonski, Amy Li, Ana Jovičić, AS Ng, BD Freibaum, C Sidrauski, C Sidrauski, C. Kimberly Tsui, D Ron, David W. Morgens, DW Morgens, DW Morgens, E Yeger-Lotem, EM Lynes, EY Son, FB Gao, Gregor Bieri, H Koike-Yusa, HJ Kim, HJ Kim, I Kwon, IR Mackenzie, IR Mackenzie, J Couthouis, J Joung, James Ousey, JC Christianson, JG Wideman, JP Taylor, Julien Couthouis, Justin K. Ichida, K Kanekura, K Mori, K Zhang, KH Lee, KM Green, KY Shi, L Ellgaard, L Huang, LA Becker, LA Gilbert, LA Gilbert, M Armakola, M DeJesus-Hernandez, M Neumann, M Prudencio, MA Horlbeck, Marc Tessier-Lavigne, MC Jonikas, MH Schludi, MI Love, Michael C. Bassik, Michael S. Haney, NF Liachko, Nicholas J. Kramer, Nicholas T. Hertz, O Shalem, OM Peters, PE Ash, Q Zhou, R Dafinca, R Lopez-Gonzalez, R Seijffers, RJ Platt, RM Deans, Rosanna Ma, S Boeynaems, S Boeynaems, S Ju, S Konermann, S Mizielinska, S Treusch, SC Ling, SJ Zhang, T Wang, T Westergard, T Zu, TF Gendron, W Cheng, X Wen, Y Lin, Y Zhou, Yingxiao Shi, YJ Zhang, YS Davidson, Z Shevtsova, Z Sun   +95 more
core   +1 more source

Cognitive inhibition impairments in presymptomatic C9orf72 carriers [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2020
ObjectiveTo investigate cognitive inhibition in presymptomatic C9orf72 mutation carriers (C9+) and its associated neuroanatomical correlates.MethodsThirty-eight presymptomatic C9orf72 mutation carriers (C9+, mean age 38.2±8.0 years) and 22 C9− controls from the PREV-DEMALS cohort were included in this study.
Montembeault, Maxime, Sayah, Sabrina, Rinaldi, Daisy, Le Toullec, Benjamin, Bertrand, Anne, Funkiewiez, Aurélie, Saracino, Dario, Camuzat, Agnès, Couratier, Philippe, Chouly, Marianne, Hannequin, Didier, Aubier Girard, Carole, Pasquier, Florence, Delbeuck, Xavier, Colliot, Olivier, Batrancourt, Bénédicte, Azuar, Carole, Lévy, Richard, Dubois, Bruno, Le Ber, Isabelle, Migliaccio, Raffaella, PrevDemAls study group   +21 more
openaire   +4 more sources

Deregulated expression of a longevity gene, Klotho, in the C9orf72 deletion mice with impaired synaptic plasticity and adult hippocampal neurogenesis

Acta Neuropathologica Communications, 2020
Hexanucleotide repeat expansion of C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Synergies between loss of C9ORF72 functions and gain of toxicities from the repeat expansions contribute to C9ORF72 ...
Wan Yun Ho, Sheeja Navakkode, Fujia Liu, Tuck Wah Soong, Shuo-Chien Ling   +4 more
doaj   +1 more source

Genetic models of C9orf72: what is toxic? [PDF]

Current Opinion in Genetics & Development, 2017
A hexanucleotide repeat expansion in the gene C9orf72 is the most common genetic cause of both amyotrophic lateral sclerosis and frontotemporal dementia. Pathogenesis may occur either due to loss of function of the C9orf72 gene, or a toxic gain of function, via the production of repetitive sense and antisense RNA and/or repetitive dipeptide repeat ...
Moens, Thomas G, Partridge, Linda, Isaacs, Adrian M   +2 more
openaire   +4 more sources

C9orf72 immunohistochemistry in Alzheimer's disease [PDF]

Alzheimer's Research & Therapy, 2012
Mutation in chromosome 9 open reading frame 72 (C9orf72) is a major genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), referred to as C9FTD/ALS. The function of the protein is currently unknown, and the pathomechanism of C9FTD/ALS remains to be elucidated.
openaire   +2 more sources

Investigation of C9orf72 in 4 Neurodegenerative Disorders [PDF]

Archives of Neurology, 2012
OBJECTIVE To estimate the allele frequency of C9orf72 (G4C2) repeats in amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), Alzheimer disease (AD), and Parkinson disease (PD). DESIGN The number of repeats was estimated by a 2-step genotyping strategy.
Xi Z, Zinman L, Grinberg Y, Moreno D, Sato C, Bilbao JM, Ghani M, Hernández I, Ruiz A, Boada M, Morón FJ, Lang AE, Marras C, Bruni A, Colao R, Maletta RG, Puccio G, RAINERO, Innocenzo, PINESSI, Lorenzo, Galimberti D, Morrison KE, Moorby C, Stockton JD, Masellis M, Black SE, Hazrati LN, Liang Y, van Haersma de With J, Fornazzari L, Villagra R, Rojas Garcia R, Clarimón J, Mayeux R, Robertson J, St George Hyslop P, Rogaeva E.   +35 more
openaire   +5 more sources