Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Sophie R Thomson"'
Autor:
Penelope J Boyd, Wen-Yo Tu, Hannah K Shorrock, Ewout J N Groen, Roderick N Carter, Rachael A Powis, Sophie R Thomson, Derek Thomson, Laura C Graham, Anna A L Motyl, Thomas M Wishart, J Robin Highley, Nicholas M Morton, Thomas Becker, Catherina G Becker, Paul R Heath, Thomas H Gillingwater
Publikováno v:
PLoS Genetics, Vol 13, Iss 4, p e1006744 (2017)
Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein. One remarkable, yet unresolved, feature of SMA
Externí odkaz:
https://doaj.org/article/6a1994812232441a91ce50a3acc16685
Autor:
Sophie R Thomson, Joya E Nahon, Chantal A Mutsaers, Derek Thomson, Gillian Hamilton, Simon H Parson, Thomas H Gillingwater
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e52605 (2012)
Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, resulting primarily from the degeneration and loss of lower motor neurons. Studies using mouse models of SMA have revealed widespread heterogeneity in the susceptibility of
Externí odkaz:
https://doaj.org/article/aab6160554fc4e56b50d92d147aa2b51
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Externí odkaz:
https://doaj.org/article/fd63178a6f2e4da4b5c77fd5fe215f58
Autor:
Sang S. Seo, Susana R. Louros, Natasha Anstey, Miguel A. Gonzalez-Lozano, Callista B. Harper, Nicholas C. Verity, Owen Dando, Sophie R. Thomson, Jennifer C. Darnell, Peter C. Kind, Ka Wan Li, Emily K. Osterweil
Publikováno v:
Nature Communications, 13:3236, 1-18. Nature Publishing Group
Seo, S S, Louros, S R, Anstey, N, Gonzalez-Lozano, M A, Harper, C B, Verity, N C, Dando, O, Thomson, S R, Darnell, J C, Kind, P C, Li, K W & Osterweil, E K 2022, ' Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome ', Nature Communications, vol. 13, 3236, pp. 1-18 . https://doi.org/10.1038/s41467-022-30979-0
Seo, S, Ribeiro dos Louros, S, Anstey, N, Gonzalez-Lozano, M A, Harper, C, Verity, N, Dando, O, Thomson, S, Darnell, J C, Kind, P C, Li, K W & Osterweil, E 2022, ' Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome ', Nature Communications, vol. 13, 3236 . https://doi.org/10.1038/s41467-022-30979-0
Seo, S S, Louros, S R, Anstey, N, Gonzalez-Lozano, M A, Harper, C B, Verity, N C, Dando, O, Thomson, S R, Darnell, J C, Kind, P C, Li, K W & Osterweil, E K 2022, ' Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome ', Nature Communications, vol. 13, 3236, pp. 1-18 . https://doi.org/10.1038/s41467-022-30979-0
Seo, S, Ribeiro dos Louros, S, Anstey, N, Gonzalez-Lozano, M A, Harper, C, Verity, N, Dando, O, Thomson, S, Darnell, J C, Kind, P C, Li, K W & Osterweil, E 2022, ' Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome ', Nature Communications, vol. 13, 3236 . https://doi.org/10.1038/s41467-022-30979-0
Dysregulated protein synthesis is a core pathogenic mechanism in Fragile X Syndrome (FX). The mGluR Theory of FX predicts that pathological synaptic changes arise from the excessive translation of mRNAs downstream of mGlu1/5 activation. Here, we use
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d821bd2159e27eae615fd951eff6dd78
https://research.vu.nl/en/publications/0345c509-fb95-4d37-bcb8-a5e510d7cdca
https://research.vu.nl/en/publications/0345c509-fb95-4d37-bcb8-a5e510d7cdca
Autor:
Sang S. Seo, Susana R. Louros, Natasha Anstey, Miguel A. Gonzalez-Lozano, Callista B. Harper, Nicholas C. Verity, Owen Dando, Sophie R. Thomson, Jennifer C. Darnell, Peter C. Kind, Ka Wan Li, Emily K. Osterweil
Dysregulated protein synthesis is a core pathogenic mechanism in Fragile X Syndrome (FX). The mGluR Theory of FX predicts that pathological synaptic changes arise from the excessive translation of mRNAs downstream of mGlu1/5 activation. Here, we use
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2190637137306e7721ec36cd611bab07
https://doi.org/10.1101/2022.04.07.487442
https://doi.org/10.1101/2022.04.07.487442
Autor:
Sophie R, Thomson, Sang S, Seo, Stephanie A, Barnes, Susana R, Louros, Melania, Muscas, Owen, Dando, Caoimhe, Kirby, David J A, Wyllie, Giles E, Hardingham, Peter C, Kind, Emily K, Osterweil
Publikováno v:
Neuron
Summary Excessive mRNA translation downstream of group I metabotropic glutamate receptors (mGlu1/5) is a core pathophysiology of fragile X syndrome (FX); however, the differentially translating mRNAs that contribute to altered neural function are not
Autor:
Stephanie A. Barnes, Silvia Bassani, Àlex Bayés, Elizabeth Berry-Kravis, Luigi Boccuto, Thomas Bourgeron, Jamel Chelly, Bice Chini, Jérôme Ezan, Jozef Gecz, Valentina Gigliucci, Xiaohong Gong, Seth G.N. Grant, Anne Hoffmann, Claire Homan, Elaine Y. Hsiao, Guillaume Huguet, Lachlan Jolly, Eunjoon Kim, Peter C. Kind, Jaewon Ko, Janine M. Lamonica, Marianna Leonzino, Natalia V. Malkova, Carla Marini, Caterina Michetti, Caterina Montani, Mireille Montcouquiol, Maïté M. Moreau, Edoardo Moretto, Alysson Renato Muotri, Emily K. Osterweil, Maria Passafaro, Olga Peñagarikano, Alan K. Percy, Duyen Pham, Katy Phelan, Laura Ricceri, Yoann Saillour, Carlo Sala, Nathalie Sans, Sara Sarasua, Maria Luisa Scattoni, Michael J. Schmeisser, Charles E. Schwartz, Yiping Shen, Chuan Tan, Daniel C. Tarquinio, Sophie R. Thomson, Chiara Verpelli, Kazuhiro Yamakawa, Zhaolan Zhou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8c97f80d4c0b770dbc0b6984c2acf55d
https://doi.org/10.1016/b978-0-12-800109-7.01002-5
https://doi.org/10.1016/b978-0-12-800109-7.01002-5
Fragile X syndrome (FXS) is a single-gene disorder that is the most prevalent heritable cause of intellectual disability and one of the most common single-gene causes of autism spectrum disorder (ASD). Although there is a clear genetic origin of FXS,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::14d883e599bf119f614195be9194113c
https://doi.org/10.1016/b978-0-12-800109-7.00008-x
https://doi.org/10.1016/b978-0-12-800109-7.00008-x
Autor:
Thomas H. Gillingwater, Siddharthan Chandran, Thomas M. Wishart, Rickie Patani, Sophie R. Thomson
Publikováno v:
Journal of Anatomy. 220:122-130
Motor neuron diseases (MND) such as amyotrophic lateral sclerosis and spinal muscular atrophy are devastating, progressive and ultimately fatal diseases for which there are no effective treatments. Recent evidence from systematic studies of animal mo
Autor:
J. Robin Highley, Paul R. Heath, Nicholas M. Morton, Thomas Becker, Ewout J N Groen, Derek Thomson, Thomas M. Wishart, Rachael A. Powis, Penelope J Boyd, Catherina G. Becker, Roderick N. Carter, Wen-Yo Tu, Thomas H. Gillingwater, Anna A L Motyl, Sophie R. Thomson, Hannah K. Shorrock, Laura C. Graham
Publikováno v:
PLoS Genetics, Vol 13, Iss 4, p e1006744 (2017)
Boyd, P J, Tu, W-Y, Shorrock, H K, Groen, E J N, Carter, R N, Powis, R A, Thomson, S R, Thomson, D, Graham, L C, Motyl, A A L, Wishart, T M, Highley, J R, Morton, N M, Becker, T, Becker, C G, Heath, P R & Gillingwater, T H 2017, ' Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy ', PLoS Genetics, vol. 13, no. 4, e1006744 . https://doi.org/10.1371/journal.pgen.1006744
PLoS Genetics
Boyd, P J, Tu, W-Y, Shorrock, H K, Groen, E J N, Carter, R N, Powis, R A, Thomson, S R, Thomson, D, Graham, L C, Motyl, A A L, Wishart, T M, Highley, J R, Morton, N M, Becker, T, Becker, C G, Heath, P R & Gillingwater, T H 2017, ' Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy ', PLoS Genetics, vol. 13, no. 4, e1006744 . https://doi.org/10.1371/journal.pgen.1006744
PLoS Genetics
Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein. One remarkable, yet unresolved, feature of SMA