Search Results - "Smith, Emma F"

The role of mitochondria in amyotrophic lateral sclerosis by Smith, Emma F., Shaw, Pamela J., De Vos, Kurt J.

“…•Mitochondrial dysfunction is one of the earliest pathophysiological events in amyotrophic lateral sclerosis (ALS).•ALS-associated mutant proteins accumulate…”
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SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits by Hautbergue, Guillaume M., Castelli, Lydia M., Ferraiuolo, Laura, Sanchez-Martinez, Alvaro, Cooper-Knock, Johnathan, Higginbottom, Adrian, Lin, Ya-Hui, Bauer, Claudia S., Dodd, Jennifer E., Myszczynska, Monika A., Alam, Sarah M., Garneret, Pierre, Chandran, Jayanth S., Karyka, Evangelia, Stopford, Matthew J., Smith, Emma F., Kirby, Janine, Meyer, Kathrin, Kaspar, Brian K., Isaacs, Adrian M., El-Khamisy, Sherif F., De Vos, Kurt J., Ning, Ke, Azzouz, Mimoun, Whitworth, Alexander J., Shaw, Pamela J.

“…Hexanucleotide repeat expansions in the C9ORF72 gene are the commonest known genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia…”
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Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities? by Webster, Christopher P, Smith, Emma F, Shaw, Pamela J, De Vos, Kurt J

“…Protein homeostasis (proteostasis), the correct balance between production and degradation of proteins, is essential for the health and survival of cells…”
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Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation by Bauer, Claudia S, Webster, Christopher P, Shaw, Allan C, Kok, Jannigje R, Castelli, Lydia M, Lin, Ya-Hui, Smith, Emma F, Illanes-Álvarez, Francisco, Higginbottom, Adrian, Shaw, Pamela J, Azzouz, Mimoun, Ferraiuolo, Laura, Hautbergue, Guillaume M, Grierson, Andrew J, De Vos, Kurt J

“…Disruption to protein homeostasis caused by lysosomal dysfunction and associated impairment of autophagy is a prominent pathology in amyotrophic lateral…”
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The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy by Webster, Christopher P, Smith, Emma F, Bauer, Claudia S, Moller, Annekathrin, Hautbergue, Guillaume M, Ferraiuolo, Laura, Myszczynska, Monika A, Higginbottom, Adrian, Walsh, Matthew J, Whitworth, Alexander J, Kaspar, Brian K, Meyer, Kathrin, Shaw, Pamela J, Grierson, Andrew J, De Vos, Kurt J

“…A GGGGCC hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia…”
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An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD by Bauer, Claudia S., Cohen, Rebecca N., Sironi, Francesca, Livesey, Matthew R., Gillingwater, Thomas H., Highley, J. Robin, Fillingham, Daniel J., Coldicott, Ian, Smith, Emma F., Gibson, Yolanda B., Webster, Christopher P., Grierson, Andrew J., Bendotti, Caterina, De Vos, Kurt J.

“…Dysfunction and degeneration of synapses is a common feature of amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). A GGGGCC hexanucleotide…”
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C9orf72 plays a central role in Rab GTPase-dependent regulation of autophagy by Webster, Christopher P., Smith, Emma F., Grierson, Andrew J., De Vos, Kurt J.

“…A GGGGCC hexanucleotide repeat expansion in the first intron of the C9orf72 gene is the most common genetic defect associated with amyotrophic lateral…”
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C9ORF72 -derived poly-GA DPRs undergo endocytic uptake in iAstrocytes and spread to motor neurons by Marchi, Paolo M, Marrone, Lara, Brasseur, Laurent, Coens, Audrey, Webster, Christopher P, Bousset, Luc, Destro, Marco, Smith, Emma F, Walther, Christa G, Alfred, Victor, Marroccella, Raffaele, Graves, Emily J, Robinson, Darren, Shaw, Allan C, Wan, Lai Mei, Grierson, Andrew J, Ebbens, Stephen J, De Vos, Kurt J, Hautbergue, Guillaume M, Ferraiuolo, Laura, Melki, Ronald, Azzouz, Mimoun

“…Dipeptide repeat (DPR) proteins are aggregation-prone polypeptides encoded by the pathogenic GGGGCC repeat expansion in the gene, the most common genetic cause…”
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The C9orf72 protein interacts with Rab1a and the ULK 1 complex to regulate initiation of autophagy by Webster, Christopher P, Smith, Emma F, Bauer, Claudia S, Moller, Annekathrin, Hautbergue, Guillaume M, Ferraiuolo, Laura, Myszczynska, Monika A, Higginbottom, Adrian, Walsh, Matthew J, Whitworth, Alexander J, Kaspar, Brian K, Meyer, Kathrin, Shaw, Pamela J, Grierson, Andrew J, De Vos, Kurt J

“…Abstract A GGGGCC hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal…”
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