Results 21 to 30 of about 14,543 (225)

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72 [PDF]

Nature Neuroscience, 2020
Hexanucleotide expansions in C9orf72, which encodes a predicted guanine exchange factor, are the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Although repeat expansion has been established to generate toxic products, mRNAs encoding the C9ORF72 protein are also reduced in affected individuals.
Qiang Zhu, Jie Jiang, Tania F. Gendron, Melissa McAlonis-Downes, Lulin Jiang, Amy Taylor, Sandra Diaz Garcia, Somasish Ghosh Dastidar, Maria J. Rodriguez, Patrick King, Yongjie Zhang, Albert R. La Spada, Huaxi Xu, Leonard Petrucelli, John Ravits, Sandrine Da Cruz, Clotilde Lagier-Tourenne, Don W. Cleveland   +17 more
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Neuroimaging features of C9ORF72 expansion [PDF]

Alzheimer's Research & Therapy, 2012
Hexanucleotide expansion intronic to chromosome 9 open reading frame 72 (C9ORF72) has recently been identified as the most common genetic cause of both familial and sporadic amyotrophic lateral sclerosis and of frontotemporal dementia with or without concomitant motor neuron disease.
Yokoyama, Jennifer S, Rosen, Howard J
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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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Treatment implications of C9ORF72 [PDF]

Alzheimer's Research & Therapy, 2012
Frontotemporal dementia (FTD) is a common dementia syndrome in patients under the age of 65 years with many features overlapping with amyotrophic lateral sclerosis (ALS). The link between FTD and ALS has been strengthened by the discovery that a hexanucleotide repeat expansion in a non-coding region of the C9ORF72 gene causes both familial and sporadic
Sha, Sharon J, Boxer, Adam
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The Genetics ofC9orf72Expansions [PDF]

Cold Spring Harbor Perspectives in Medicine, 2017
Repeat expansions in the promoter region of C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and related disorders of the ALS/frontotemporal lobar degeneration (FTLD) spectrum. Remarkable clinical heterogeneity among patients with a repeat expansion has been observed, and genetic anticipation over different generations ...
Gijselinck, Ilse, Cruts, Marc, Van Broeckhoven, Christine   +2 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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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
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Automated Fast-Flow Synthesis of C9orf72 Dipeptide Repeat Proteins [PDF]

, 2023
An expansion of the hexanucleotide (GGGGCC) repeat sequence in the chromosome 9 open frame 72 (c9orf72) is the most common genetic mutation in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Charlotte E., Farquhar, Kohei, Sato, Bradley, Pentelute   +2 more
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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
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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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