Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Emily K. Osterweil"'
Autor:
Laura Simões de Oliveira, Heather E. O’Leary, Sarfaraz Nawaz, Rita Loureiro, Elizabeth C. Davenport, Paul Baxter, Susana R. Louros, Owen Dando, Emma Perkins, Julien Peltier, Matthias Trost, Emily K. Osterweil, Giles E. Hardingham, Michael A. Cousin, Sumantra Chattarji, Sam A. Booker, Tim A. Benke, David J. A Wyllie, Peter C. Kind
Publikováno v:
Molecular Autism, Vol 15, Iss 1, Pp 1-21 (2024)
Abstract Background Mutations in the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) cause a severe neurological disorder characterised by early-onset epileptic seizures, autism and intellectual disability (ID). Impaired hippocampal function has
Externí odkaz:
https://doaj.org/article/ae255dae432e41748c4459655b5be30f
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, Vol 13, Iss 1, Pp 1-18 (2022)
Dysregulated protein synthesis is key contributor to Fragile X syndrome. Here the authors identify a relationship between ribosome expression and the translation of long mRNAs that contributes to synaptic weakening in a model of Fragile X syndrome.
Externí odkaz:
https://doaj.org/article/8ae6ea90e044406685e3c0bd724e960e
Autor:
Susana R. Louros, Sang S. Seo, Beatriz Maio, Cristina Martinez-Gonzalez, Miguel A. Gonzalez-Lozano, Melania Muscas, Nick C. Verity, Jimi C. Wills, Ka Wan Li, Matthew F. Nolan, Emily K. Osterweil
Publikováno v:
Louros, S R, Seo, S S, Maio, B, Martinez-Gonzalez, C, Gonzalez-Lozano, M A, Muscas, M, Verity, N C, Wills, J C, Li, K W, Nolan, M F & Osterweil, E K 2023, ' Excessive proteostasis contributes to pathology in fragile X syndrome ', Neuron, vol. 111, no. 4, pp. 508-525.e7 . https://doi.org/10.1016/j.neuron.2022.11.012
Ribeiro dos Louros, S, Seo, S, Maio, B, Martinez Gonzalez, C, Gonzalez-Lozano, M A, Muscas, M, Verity, N, Wills, J, Li, K W, Nolan, M F & Osterweil, E 2022, ' Excessive proteostasis contributes to pathology in Fragile X Syndrome ', Neuron . https://doi.org/10.1016/j.neuron.2022.11.012
Neuron, 111(4), 508-525.e7. Cell Press
Ribeiro dos Louros, S, Seo, S, Maio, B, Martinez Gonzalez, C, Gonzalez-Lozano, M A, Muscas, M, Verity, N, Wills, J, Li, K W, Nolan, M F & Osterweil, E 2022, ' Excessive proteostasis contributes to pathology in Fragile X Syndrome ', Neuron . https://doi.org/10.1016/j.neuron.2022.11.012
Neuron, 111(4), 508-525.e7. Cell Press
In fragile X syndrome (FX), the leading monogenic cause of autism, excessive neuronal protein synthesis is a core pathophysiology; however, an overall increase in protein expression is not observed. Here, we tested whether excessive protein synthesis
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:
Victor H. Villar, Lynsey M. Meikle, Sheila Brown, Josephine Bunch, Emily K. Osterweil, Richard J. A. Goodwin, Maya Kamat, RuAngelie Edrada-Ebel, Justin J. J. van der Hooft, Michael J. Ormsby, Alex Dexter, Daniel Walker, Gillian Douce, Nicole Strittmatter, Julia M. Edgar, John G. Swales, Saverio Tardito, Jasper C. Komen, Ryan A. Bragg, Daniel M. Wall, Andrew S. MacDonald, Christopher J. Schofield, Heather Hulme, Stephanie A. Barnes, Richard Burchmore, Simon Milling
Publikováno v:
Hulme, H, Meikle, L M, Strittmatter, N, van der Hooft, J J J, Swales, J, Bragg, R A, Villar, V H, Ormsby, M J, Barnes, S, Brown, S L, Dexter, A, Kamat, M T, Komen, J C, Walker, D, Milling, S, Osterweil, E K, MacDonald, A S, Schofield, C J, Tardito, S, Bunch, J, Douce, G, Edgar, J M, Edrada-Ebel, R, Goodwin, R J A, Burchmore, R & Wall, D M 2020, ' Microbiome-derived carnitine mimics as previously unknown mediators of gut-brain axis communication ', Science Advances, vol. 6, no. 11, eaax6328, pp. 1-10 . https://doi.org/10.1126/sciadv.aax6328
Science Advances 6 (2020) 11
Science Advances
Science Advances, 6(11)
Hulme, H, Meikle, L M, Strittmatter, N, van der Hooft, J J J, Swales, J, Bragg, R A, Villar, V H, Ormsby, M J, Barnes, S, Brown, S L, Dexter, A, Kamat, M T, Komen, J C, Walker, D, Milling, S, Osterweil, E K, MacDonald, A S, Schofield, C J, Tardito, S, Bunch, J, Douce, G, Edgar, J M, Edrada-Ebel, R, Goodwin, R J A, Burchmore, R & Wall, D M 2020, ' Microbiome-derived carnitine mimics as previously unknown mediators of gut-brain axis communication ', Science Advances, vol. 6, no. 11, pp. eaax6328 . https://doi.org/10.1126/sciadv.aax6328
Science Advances 6 (2020) 11
Science Advances
Science Advances, 6(11)
Hulme, H, Meikle, L M, Strittmatter, N, van der Hooft, J J J, Swales, J, Bragg, R A, Villar, V H, Ormsby, M J, Barnes, S, Brown, S L, Dexter, A, Kamat, M T, Komen, J C, Walker, D, Milling, S, Osterweil, E K, MacDonald, A S, Schofield, C J, Tardito, S, Bunch, J, Douce, G, Edgar, J M, Edrada-Ebel, R, Goodwin, R J A, Burchmore, R & Wall, D M 2020, ' Microbiome-derived carnitine mimics as previously unknown mediators of gut-brain axis communication ', Science Advances, vol. 6, no. 11, pp. eaax6328 . https://doi.org/10.1126/sciadv.aax6328
Discovery of novel bacterial metabolites reveals an unprecedented role for the microbiome in gut-brain axis communication.
Alterations to the gut microbiome are associated with various neurological diseases, yet evidence of causality and identit
Alterations to the gut microbiome are associated with various neurological diseases, yet evidence of causality and identit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6425116aa951a24b358ad25d9af7f085
https://doi.org/10.1126/sciadv.aax6328
https://doi.org/10.1126/sciadv.aax6328
Autor:
Catherine M. Abbott, Mihail Halachev, Detelina Grozeva, Hugues Roest Crollius, F. Lucy Raymond, James Prendergast, Peter C. Kind, Hemant Bengani, Jacqueline K. Rainger, Laura C. Murphy, Liusaidh J Owen, Veronica van Heyningen, Adam Jackson, Lambert Moyon, Graeme R. Grimes, Olivera Spasic-Boskovic, Magali Naville, Emily K. Osterweil, Jilly Hope, David R. FitzPatrick, Shipra Bhatia, Susana R. Louros
Publikováno v:
PLoS ONE, Vol 16, Iss 8, p e0256181 (2021)
PLoS ONE
PLoS ONE, Public Library of Science, 2021, 16 (8), pp.e0256181. ⟨10.1371/journal.pone.0256181⟩
Bengani, H, Grozeva, D, Moyon, L, Bhatia, S, Louros, S R, Hope, J, Jackson, A, Prendergast, J G, Owen, L J, Naville, M, Rainger, J, Grimes, G, Halachev, M, Murphy, L C, Spasic-Boskovic, O, van Heyningen, V, Kind, P, Abbott, C M, Osterweil, E, Raymond, F L, Roest Crollius, H & FitzPatrick, D R 2021, ' Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability ', PLoS ONE, vol. 16, no. 8, e0256181 . https://doi.org/10.1371/journal.pone.0256181
PLoS ONE
PLoS ONE, Public Library of Science, 2021, 16 (8), pp.e0256181. ⟨10.1371/journal.pone.0256181⟩
Bengani, H, Grozeva, D, Moyon, L, Bhatia, S, Louros, S R, Hope, J, Jackson, A, Prendergast, J G, Owen, L J, Naville, M, Rainger, J, Grimes, G, Halachev, M, Murphy, L C, Spasic-Boskovic, O, van Heyningen, V, Kind, P, Abbott, C M, Osterweil, E, Raymond, F L, Roest Crollius, H & FitzPatrick, D R 2021, ' Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability ', PLoS ONE, vol. 16, no. 8, e0256181 . https://doi.org/10.1371/journal.pone.0256181
Funder: BBSRC studentship
Identifying causative variants in cis-regulatory elements (CRE) in neurodevelopmental disorders has proven challenging. We have used in vivo functional analyses to categorize rigorously filtered CRE variants in a clinic
Identifying causative variants in cis-regulatory elements (CRE) in neurodevelopmental disorders has proven challenging. We have used in vivo functional analyses to categorize rigorously filtered CRE variants in a clinic
Autor:
Laura C. Murphy, Shipra Bhatia, Jacqueline K. Rainger, Liusaidh J Owen, James Prendergast, Emily K. Osterweil, Lambert Moyon, Peter C. Kind, Susana R. Louros, Jilly Hope, David R. FitzPatrick, Olivera Spasic Boskovic, Lucy Raymond, Magali Naville, Detelina Grozeva, Hemant Bengani, Mihail Halachev, Graeme R. Grimes, Hugues Roest Crollius, Veronica van Heyningen, Catherine M. Abbott, Adam Jackson
Undiagnosed neurodevelopmental disease is significantly associated with rare variants in cis-regulatory elements (CRE) but demonstrating causality is challenging as target gene consequences may differ from a causative variant affecting the coding reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6925cd7e89301be8c718ea847b34bc22
https://doi.org/10.1101/2020.08.03.232926
https://doi.org/10.1101/2020.08.03.232926
Publikováno v:
eNeuro
Muscas, M, Seo, S, Louros, S R & Osterweil, E 2020, ' A differential effect of lovastatin versus simvastatin in neurodevelopmental disorders ', eNeuro . https://doi.org/10.1523/ENEURO.0162-20.2020
Muscas, M, Seo, S, Louros, S R & Osterweil, E 2020, ' A differential effect of lovastatin versus simvastatin in neurodevelopmental disorders ', eNeuro . https://doi.org/10.1523/ENEURO.0162-20.2020
Significance statement The statin drug lovastatin normalizes excessive protein synthesis and thereby ameliorates pathological changes in animal models of Fragile X Syndrome (FX), the most commonly identified genetic cause of autism. Recently, we comp
Autor:
Emily K. Osterweil
Publikováno v:
Science Translational Medicine. 12
Loss of Fmr1 in glutamatergic neurons of the inferior colliculus is responsible for audiogenic seizures in the fragile X syndrome mouse model.
Autor:
Emily K. Osterweil
Publikováno v:
Osterweil, E 2019, ' A no-nonsense treatment for Autism Spectrum Disorder ', Science Translational Medicine . https://doi.org/10.1126/scitranslmed.aaz3723
Mutation of the nonsense-mediated mRNA decay factor Upf2 leads to neurological phenotypes that can be corrected with immunosuppressive drugs in mice.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aefda75fc0f12ebad63d22436bade804
https://www.pure.ed.ac.uk/ws/files/118986873/aaz3723_ArticleContent_final.pdf
https://www.pure.ed.ac.uk/ws/files/118986873/aaz3723_ArticleContent_final.pdf