Results 51 to 60 of about 8,444 (178)

Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity

Acta Neuropathologica Communications, 2020
A C9orf72 repeat expansion is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis. One of the suggested pathomechanisms is toxicity from dipeptide repeat proteins (DPRs), which are generated via unconventional
Annelies Quaegebeur, Idoia Glaria, Tammaryn Lashley, Adrian M. Isaacs   +3 more
doaj   +1 more source

Repeat Problems: Combinatorial Effect of C9orf72 ‐Derived Dipeptide Repeat Proteins

The FASEB Journal, 2018
The most common genetic cause of both Amyotrophic Lateral Sclerosis and Frontotemporal Dementia is a microsatellite expansion mutation in the 5′ UTR region of C9orf72. Expansion of the hexanucleotide repeat region of C9orf72 leads to loss of function ...
April Darling, Leonid Braydo, Laura Blair, John Koren, Vladimir Uversky   +4 more
openaire   +1 more source

RNA-mediated toxicity in C9orf72 ALS and FTD

Neurobiology of Disease, 2020
A GGGGCC hexanucleotide repeat expansion in the first intron of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Compelling evidence suggests that gain of toxicity from the bidirectionally transcribed
Zachary T. McEachin, Janani Parameswaran, Nisha Raj, Gary J. Bassell, Jie Jiang   +4 more
doaj   +1 more source

Antisense, but not sense, repeat expanded RNAs activate PKR/eIF2α-dependent ISR in C9ORF72 FTD/ALS

eLife, 2023
GGGGCC (G4C2) hexanucleotide repeat expansion in the C9ORF72 gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The repeat is bidirectionally transcribed and confers gain of toxicity.
Janani Parameswaran, Nancy Zhang, Elke Braems, Kedamawit Tilahun, Devesh C Pant, Keena Yin, Seneshaw Asress, Kara Heeren, Anwesha Banerjee, Emma Davis, Samantha L Schwartz, Graeme L Conn, Gary J Bassell, Ludo Van Den Bosch, Jie Jiang   +14 more
doaj   +1 more source

HDAC6 Interacts With Poly (GA) and Modulates its Accumulation in c9FTD/ALS

Frontiers in Cell and Developmental Biology, 2022
The aberrant translation of a repeat expansion in chromosome 9 open reading frame 72 (C9orf72), the most common cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), results in the accumulation of toxic dipeptide repeat (DPR ...
Giulia del Rosso, Giulia del Rosso, Yari Carlomagno, Tiffany W. Todd, Caroline Y. Jones, Mercedes Prudencio, Mercedes Prudencio, Lillian M. Daughrity, Mei Yue, Karen Jansen-West, Jimei Tong, Wei Shao, Yanwei Wu, Monica Castanedes-Casey, Lilia Tabassian, Björn Oskarsson, Karen Ling, Frank Rigo, Dennis W. Dickson, Dennis W. Dickson, Tso-Pang Yao, Leonard Petrucelli, Leonard Petrucelli, Casey N. Cook, Casey N. Cook, Yong Jie Zhang, Yong Jie Zhang   +26 more
doaj   +1 more source

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

, 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 ...
Ridler, CE, Pickering-Brown, Stuart, Norona, FE, Woollacott, I., Fratta, P., Norona, Frances E, Woollacott, IOC, Ridler, Charlotte E, Devoy, A, Pietrzyk, J, Fisher, EMC, Devoy, Anny, Dols, J, Dols, Jacqueline, Moens, T., Cleverley, K., Fratta, Pietro, Partridge, Linda, Nicoll, Andrew J, Fisher, E., Ridler, C., Fratta, P, Grönke, S., Pickering-Brown, S., Isaacs, Adrian M, Cabecinha, Melissa, Mizielinska, S, Moens, Thomas, Clayton, E., Partridge, L., Pietrzyk, J., Clayton, Emma L, Mizielinska, Sarah, Niccoli, T., Devoy, Anny; id_orcid, Mizielinska, Sarah; id_orcid, Isaacs, A., Woollacott, Ione O C, Cleverley, Karen, Nicoll, AJ, Hendrich, O., Moens, T, Dols, J., Grönke, Sebastian, Cabecinha, M., Cabecinha, M, Fisher, Elizabeth M C, Mizielinska, S., Clayton, EL, Nicoll, A., Hendrich, Oliver, Grönke, S, Niccoli, Teresa, Pietrzyk, Julian, Devoy, A., Norona, F., Isaacs, AM, Pickering-Brown, S, Cleverley, K, Hendrich, O, Niccoli, T, Partridge, L   +61 more
core   +1 more source

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

The EMBO Journal, 2020
Expansion of G4C2 repeats within the C9ORF72 gene is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Such repeats lead to decreased expression of the autophagy regulator C9ORF72 protein. Furthermore, sense and antisense repeats are translated into toxic dipeptide repeat (DPR) proteins.
Boivin, Manon, Pfister, Véronique, Gaucherot, Angeline, Ruffenach, Frank, Negroni, Luc, Sellier, Chantal, Charlet‐berguerand, Nicolas   +6 more
openaire   +2 more sources

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

Cell Reports, 2020
Summary: A G4C2 hexanucleotide repeat expansion in an intron of C9orf72 is the most common cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS).
Tiffany W. Todd, Zachary T. McEachin, Jeannie Chew, Alexander R. Burch, Karen Jansen-West, Jimei Tong, Mei Yue, Yuping Song, Monica Castanedes-Casey, Aishe Kurti, Judith H. Dunmore, John D. Fryer, Yong-Jie Zhang, Beatriz San Millan, Susana Teijeira Bautista, Manuel Arias, Dennis Dickson, Tania F. Gendron, María-Jesús Sobrido, Matthew D. Disney, Gary J. Bassell, Wilfried Rossoll, Leonard Petrucelli   +22 more
doaj   +1 more source

Altered Phase Separation and Cellular Impact in C9orf72-Linked ALS/FTD

Frontiers in Cellular Neuroscience, 2021
Since the discovery of the C9orf72 repeat expansion mutation as causative for chromosome 9-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in 2011, a multitude of cellular pathways have been implicated.
Daniel A. Solomon, Daniel A. Solomon, Rebekah Smikle, Matthew J. Reid, Sarah Mizielinska, Sarah Mizielinska   +5 more
doaj   +1 more source

Preclinical evaluation of WVE-004, aninvestigational stereopure oligonucleotide forthe treatment of C9orf72-associated ALS or FTD

Molecular Therapy: Nucleic Acids, 2022
A large hexanucleotide (G4C2) repeat expansion in the first intronic region of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Yuanjing Liu, Amy Andreucci, Naoki Iwamoto, Yuan Yin, Hailin Yang, Fangjun Liu, Alexey Bulychev, Xiao Shelley Hu, Xuena Lin, Sarah Lamore, Saurabh Patil, Susovan Mohapatra, Erin Purcell-Estabrook, Kristin Taborn, Elena Dale, Chandra Vargeese   +15 more
doaj   +1 more source