Selected Publications
2025
Non-ionotropic signaling through the NMDA receptor GluN2B carboxy-terminal domain drives dendritic spine plasticity and reverses fragile X phenotypes. Barnes SA, Thomazeau A, Finnie PSB, Heinrich MJ, Heynen AJ, Komiyama NH, Grant SGN, Menniti FS, Osterweil EK, Bear MF.
Cell Rep. 2025 Mar 25;44(3):115311. doi: 10.1016/j.celrep.2025.115311. Epub 2025 Feb 20. PMID: 39983718
2024
Protocol for identifying sound-activated neurons in the inferior colliculus by cFos immunostaining.
Maio B, Elu N, Martinez-Gonzalez C, Osterweil EK, Louros SR.
STAR Protoc. 2024 Dec 20;5(4):103482. doi: 10.1016/j.xpro.2024.103482. Epub 2024 Dec 11. PMID: 39666460
Key roles of C2/GAP domains in SYNGAP1-related pathophysiology. Katsanevaki D, Till SM, Buller-Peralta I, Nawaz MS, Louros SR, Kapgal V, Tiwari S, Walsh D, Anstey NJ, Petrović NG, Cormack A, Salazar-Sanchez V, Harris A, Farnworth-Rowson W, Sutherland A, Watson TC, Dimitrov S, Jackson AD, Arkell D, Biswal S, Dissanayake KN, Mizen LAM, Perentos N, Jones MW, Cousin MA, Booker SA, Osterweil EK, Chattarji S, Wyllie DJA, Gonzalez-Sulser A, Hardt O, Wood ER, Kind PC.
Cell Rep. 2024 Sep 24;43(9):114733. doi: 10.1016/j.celrep.2024.114733. Epub 2024 Sep 12. PMID: 39269903
Sex-specific resilience of neocortex to food restriction. Padamsey Z, Katsanevaki D, Maeso P, Rizzi M, Osterweil EE, Rochefort NL.
Elife. 2024 Jul 8;12:RP93052. doi: 10.7554/eLife.93052. PMID: 38976495
Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder. Simões de Oliveira L, O'Leary HE, Nawaz S, Loureiro R, Davenport EC, Baxter P, Louros SR, Dando O, Perkins E, Peltier J, Trost M, Osterweil EK, Hardingham GE, Cousin MA, Chattarji S, Booker SA, Benke TA, Wyllie DJA, Kind PC.
Mol Autism. 2024 Jun 14;15(1):28. doi: 10.1186/s13229-024-00601-9. PMID: 38877552
2023
Unbalanced proteostasis contributes to pathology in Fragile X Syndrome. Louros SR*, Seo SS*, Maio B, Martinez-Gonzalez C, Gonzalez-Lozano MA, Muscas M, Verity NC, Willis JC, Li KW, Nolan MF, and Osterweil EK.
Neuron, Feb 15;111(4):508-525.e7.doi: 10.1016/j.neuron.2022.11.012.
2022
Excess ribogenesis unbalances translation in a model of Fragile X Syndrome. Seo SS*, Louros SR*, Anstey N, Gonzales-Lozano MA, Harper CB, Verity NC, Dando O, Thomson SR, Darnell JC, Kind PC, Li KW, and Osterweil EK.
Nature Communications. 13, 3236 2022. https://doi.org/10.1038/s41467-022-30979-0
2021
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. Bengani M, Grozeva D, Moyon L, Bhatia S, Louros S, Hope J, Prendergast JG, Naville M, Spasic-Boskovic O, van Heyningen V, Abbott CM, Osterweil E, Raymond L, Roest Crollius H, and FitzPatrick DR.
Plos One. Aug 13;16(8):e0256181. doi: 10.1371/journal.pone.0256181.
2020
A differential effect of lovastatin versus simvastatin in neurodevelopmental disorders. Muscas M, Seo SS, Louros SR, Osterweil EK.
eNeuro. 2020 Jul 10:ENEURO.0162-20.2020.
Microbiome-derived carnitine mimics as novel mediators of gut-brain axis communication. Hulme H, Meikle LM, Strittmatter N, van der Hooft JJJ, Swales J, Bragg RA, Villar VH, Ormsby MJ, Barnes S, Brown SL, Dexter A, Kamat MT, Komen JC, Walker D, Milling S, Osterweil EK, MacDonald AS, Schofield CJ, Tardito S, Bunch J, Douce G, Edgar JM, Edrada-Ebel R, Goodwin RJA, Burchmore R, and Wall DM.
Science Advances. Mar 11 2020 Mar 11;6(11):eaax6328.
Seizing control of Fragile X Syndrome. Osterweil EK.
Science Translational Medicine. 2020 Jan 01; Vol. 12, Issue 524. DOI: 10.1126/scitranslmed.aba2902.
2019
A no-nonsense treatment for autism spectrum disorder. Osterweil EK.
Science Translational Medicine. 2019 Oct 30;11(516). DOI: 10.1126/scitranslmed.aaz3723.
Of mice, men, and NLGN4. Osterweil EK.
Science Translational Medicine. 2019 Sep 04; Vol. 11, Issue 508, eaaz0307. DOI: 10.1126/scitranslmed.aaz0307.
A primate resource for autism. Osterweil EK.
Science Translational Medicine. 2019 Jul 10;11(500). DOI: 10.1126/scitranslmed.aay3571.
Lovastatin, not simvastatin, corrects core phenotypes in a mouse model of Fragile X Syndrome. Muscas M, Louros SR, and Osterweil EK.
eNeuro. 2019 May-Jun; 6(3): ENEURO.0097-19.2019. doi: 10.1523/ENEURO.0097-19.2019.
SHANK3 puts autism to sleep. Osterweil EK.
Science Translational Medicine. 15 May 2019:
Vol. 11, Issue 492, eaax1714. DOI: 10.1126/scitranslmed.aax1714.
Sustained correction of associative learning deficits following brief, early treatment in a rat model of Fragile X Syndrome. Asiminas A*, Jackson AD*, Louros S†, Till SM†, Spano T, Dando O, Bear MF, Chattarji S, Hardingham GE, Osterweil EK, Wyllie DJA, Wood ER, and Kind PC. Science Translational Medicine. 2019 May 29;11(494). pii: eaao0498. doi: 10.1126/scitranslmed.aao0498.
*,✝ authors contributed equally
Upsetting the Excitatory-Inhibitory Balance Hypothesis of Autism. Osterweil EK.
Science Translational Medicine. 2019 Mar 20;11(484). DOI: 10.1126/scitranslmed.aax2730.
2017
Cell type-specific translation profiling reveals a novel strategy for treating fragile X syndrome. Thomson SR*, Seo SS*, Barnes SA✝, Louros SR✝, Muscas M, Dando O, Kirby C, Hardingham GE, Wyllie DJA, Kind PC, and Osterweil EK.
Neuron. 2017 Aug 2; 95(3):550-563.e5. doi: 10.1016/j.neuron.2017.07.013.
*,✝ authors contributed equally
The mGluR Theory of fragile X syndrome. Stoppel LJ, Osterweil EK, and Bear MF.
2016
Negative allosteric modulation of mGluR5 partially corrects pathophysiology in a mouse model of Rett Syndrome. Tao J, Wu H, Coronado A, De Laittre E, Osterweil EK, Zhang Y, and Bear MF. Journal of Neuroscience. 2016 Nov 23;36(47):11946-11958. DOI: 10.1523/JNEUROSCI.0672-16.2016.
Perturbed proteostasis in autism spectrum disorders. Louros SR and Osterweil EK.
Journal of Neurochemistry. 2016 Dec;139(6):1081-1092. doi: 10.1111/jnc.13723.
FMRP and the pathophysiology of fragile X syndrome. Barnes SA, Thomson SR, Kind PC, and Osterweil EK.
2015
Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice. Barnes SA, Wijetunge LS, Jackson AD, Katsanevaki D, Osterweil EK, Komiyama NH, Grant SG, Bear MF, Nägerl UV, Kind PC, and Wyllie DJ.
Journal of Neuroscience. 2015 Nov 11;35(45):15073-81. doi: 10.1523/JNEUROSCI.1087-15.2015.
Metabotropic glutamate receptor signaling is required for NMDA receptor-dependent ocular dominance plasticity and LTD in visual cortex. Sidorov MS, Kaplan ES, Osterweil EK, Lindemann L, and Bear MF.
PNAS 2015 Oct 13;112(41):12852-7. doi: 10.1073/pnas.1512878112.
Conserved hippocampal cellular pathophysiology but distinct behavioural deficits in a new rat model of FXS. Till SM, Asiminas A, Jackson AD, Katsanevaki D, Barnes SA, Osterweil EK, Bear MF, Chattarji S, Wood ER, Wyllie DJ, and Kind PC.
Human Molecular Genetics. 2015 Nov 1;24(21):5977-84. doi: 10.1093/hmg/ddv299.
2014 and previous
Extinction of an instrumental response: A cognitive behavioral assay in Fmr1 knockout mice. Sidorov MS, Krueger DD, Taylor M, Gisin E, Osterweil EK, and Bear MF.
Genes, Brain & Behavior. 2014 Jun;13(5):451-8. doi: 10.1111/gbb.12137.
Is metabotropic glutamate receptor 5 upregulated in prefrontal cortex in fragile X syndrome? Lohith TG, Osterweil EK, Fujita M, Jenko KJ, Bear MF, and Innis RB.
Molecular Autism. 2013 May 24;4(1):15. doi: 10.1186/2040-2392-4-15.
Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome. Osterweil EK, Chuang SC, Chubykin AA, Sidorov M, Bianchi R, Wong RKS, and Bear MF.
Neuron. 2013 Jan 23;77(2):243-50. doi: 10.1016/j.neuron.2012.01.034.
Lifting the mood on treating fragile X. Osterweil EK, Kind PC, and Bear MF.
Biological Psychiatry. 2012, 72(11):895-7. DOI: 10.1016/j.biopsych.2012.09.017.
Mutations causing syndromic autism define an axis of synaptic pathophysiology. Auerbach BD, Osterweil EK, and Bear MF.
Nature. 2011, 480(7375):63-8. doi: 10.1038/nature10658.
Cognitive dysfunction and prefrontal synaptic abnormalities in a mouse model of fragile X syndrome. Krueger DD, Osterweil EK, Chen SP, Tye LD, and Bear MF.
PNAS. 2011, 108(6):2587-92. doi: 10.1073/pnas.1013855108.
Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome. Osterweil EK, Krueger DD, Reinhold K, and Bear MF. Journal of Neuroscience. 2010, 30(46):15616-27. doi: 10.1523/JNEUROSCI.3888-10.2010.
Activation of mGluR5 Induces Rapid and Long-Lasting Protein Kinase D Phosphorylation in Hippocampal Neurons. Krueger DD, Osterweil EK, and Bear MF.
Journal of Molecular Neuroscience. 2010, 42(1):1-8. doi: 10.1007/s12031-010-9338-9.
Fragile X: translation in action. Bear MF, Dölen G, Osterweil E, and Nagarajan N. Neuropsychopharmacology. 2008, 33(1):84-7. PMID:17940551.
Correction of fragile X syndrome in mice. Dölen G, Osterweil E, Rao BS, Smith GB, Auerbach BD, Chattarji S, and Bear MF.
Neuron. 2007, 56(6):955-62. DOI: 10.1016/j.neuron.2007.12.001.
Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis. Krendel M, Osterweil EK, and Mooseker MS.
FEBS Letters. 2007, 581(4):644-50. PMID:17257598.
A role for myosin VI in postsynaptic structure and glutamate receptor endocytosis. Osterweil E, Wells DG, and Mooseker MS.
Journal of Cell Biology. 2005, 168(2):329-38. DOI: 10.1083/jcb.200410091.
Altered vascular permeability and early onset of experimental autoimmune encephalomyelitis in PECAM-1-deficient mice. Graesser D, Solowiej A, Bruckner M, Osterweil E, Juedes A, Davis S, Ruddle NH, Engelhardt B, and Madri JA.
Journal of Clinical Investigation. 2002, 109(3):383-92. DOI: 10.1172/JCI13595.