Results 21 to 30 of about 16,368 (183)

Cellular and molecular insights into neurodegeneration mediated by the C9orf72 repeat expansion mutation [PDF]

, 2022
Amyotrophic lateral sclerosis (ALS) is an incurable, rapidly progressive and fatal neurodegenerative disorder, characterised by loss of upper and lower motor neurons (MNs).
Mehta, Arpan R.
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TFEB/Mitf links impaired nuclear import to autophagolysosomal dysfunction in C9-ALS

eLife, 2020
Disrupted nucleocytoplasmic transport (NCT) has been implicated in neurodegenerative disease pathogenesis; however, the mechanisms by which disrupted NCT causes neurodegeneration remain unclear.
Kathleen M Cunningham, Kirstin Maulding, Kai Ruan, Mumine Senturk, Jonathan C Grima, Hyun Sung, Zhongyuan Zuo, Helen Song, Junli Gao, Sandeep Dubey, Jeffrey D Rothstein, Ke Zhang, Hugo J Bellen, Thomas E Lloyd   +13 more
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Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafish [PDF]

, 2021
Butti et al. generate a C9orf72 loss-of-function model in zebrafish. They find that that C9orf72 is required for presynaptic vesicle trafficking and release at the zebrafish larval neuromuscular junctions. This study provides functional insights into the
Pan, Yingzhou Edward, Yingzhou Edward Pan, Shunmoogum A. Patten, Patten, Shunmoogum A., Zoé Butti, Jean Giacomotto, Patten, Shunmoogum A, Giacomotto, Jean, Butti, Zoe   +8 more
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Motor Neuron Generation from iPSCs from Identical Twins Discordant for Amyotrophic Lateral Sclerosis

Cells, 2020
Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disorder characterized by the loss of the upper and lower motor neurons. Approximately 10% of cases are caused by specific mutations in known genes, with the remaining cases having no ...
Emily R. Seminary, Stephanie Santarriaga, Lynn Wheeler, Marie Mejaki, Jenica Abrudan, Wendy Demos, Michael T. Zimmermann, Raul A. Urrutia, Dominic Fee, Paul E. Barkhaus, Allison D. Ebert   +10 more
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Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling. [PDF]

PLoS Genetics, 2016
The most common cause of the neurodegenerative diseases amyotrophic lateral sclerosis and frontotemporal dementia is a hexanucleotide repeat expansion in C9orf72.
Janet Ugolino, Yon Ju Ji, Karen Conchina, Justin Chu, Raja Sekhar Nirujogi, Akhilesh Pandey, Nathan R Brady, Anne Hamacher-Brady, Jiou Wang   +8 more
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The repeat length of C9orf72 is associated with the survival of amyotrophic lateral sclerosis patients without C9orf72 pathological expansions

Frontiers in Neurology, 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 ...
Lu Tang, Lu Tang, Lu Tang, Lu Chen, Lu Chen, Lu Chen, Xiaolu Liu, Xiaolu Liu, Xiaolu Liu, Ji He, Ji He, Ji He, Yan Ma, Yan Ma, Yan Ma, Nan Zhang, Nan Zhang, Nan Zhang, Dongsheng Fan, Dongsheng Fan, Dongsheng Fan   +20 more
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C9orf72 and intracerebral haemorrhage [PDF]

, 2019
The C9orf72 GGGGCC repeat expansion has been associated with several diseases, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD).
Cohen, Hannah, Yousry, T, Sharma, Nikhil, Yousry, Tarek, Muir, Keith M., Seiffge, David J., Jäger, Hans R, Brown, Martin M., Hostettler, IC, Jäger, HR, Cohen, H, Hostettler, Isabel C., Seiffge, D, Jäger, Hans R., Wong, A, Brown, MM, Muir, Keith W, Salman, Rustam Al-Shahi, Lip, Gregory Y H, Bernal-Quiros, Manuel, Shakeshaft, Clare, Houlden, H, Werring, David J, Al-Shahi Salman, R, Muir, KW, Wilson, Duncan, Bernal-Quiros, M, Brown, Martin M, Lip, GYH, Wong, Andrew, Wilson, D, Shakeshaft, C, Lip, Gregory Y.H., Houlden, Henry, Werring, David J., Hostettler, Isabel C, Seiffge, David, Sharma, N, Werring, DJ, Al-Shahi Salman, Rustam, Muir, Keith W.   +40 more
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Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos

Disease Models & Mechanisms, 2021
The hexanucleotide (G4C2)-repeat expansion in the C9ORF72 gene is the most common pathogenic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
Fréderike W. Riemslagh, Rob F. M. Verhagen, Esmay C. van der Toorn, Daphne J. Smits, Wim H. Quint, Herma C. van der Linde, Tjakko J. van Ham, Rob Willemsen   +7 more
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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 ...
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
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A toxic gain-of-function mechanism in C9orf72 ALS impairs the autophagy-lysosome pathway in neurons

Acta Neuropathologica Communications, 2023
Background Motor neurons (MNs), which are primarily affected in amyotrophic lateral sclerosis (ALS), are a specialized type of neurons that are long and non-dividing. Given their unique structure, these cells heavily rely on transport of organelles along
Jimmy Beckers, Arun Kumar Tharkeshwar, Laura Fumagalli, Matilde Contardo, Evelien Van Schoor, Raheem Fazal, Dietmar Rudolf Thal, Siddharthan Chandran, Renzo Mancuso, Ludo Van Den Bosch, Philip Van Damme   +10 more
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