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Selected Publications

2020 - 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.

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.

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. Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. Plos One. Aug 13;16(8):e0256181. doi: 10.1371/journal.pone.0256181. 

Muscas M, Seo SS, Louros SR, Osterweil EK. A differential effect of lovastatin versus simvastatin in neurodevelopmental disorders. eNeuro. 2020 Jul 10:ENEURO.0162-20.2020.


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. Microbiome-derived carnitine mimics as novel mediators of gut-brain axis communication. Science Advances. Mar 11 2020 Mar 11;6(11):eaax6328.


Osterweil EK. Seizing control of Fragile X Syndrome. Science Translational Medicine. 2020 Jan 01; Vol. 12, Issue 524. DOI: 10.1126/scitranslmed.aba2902.

2017 - 2019

Osterweil EK. A no-nonsense treatment for autism spectrum disorder. Science Translational Medicine. 2019 Oct 30;11(516). DOI: 10.1126/scitranslmed.aaz3723.

Osterweil EK. Of mice, men, and NLGN4. Science Translational Medicine. 2019 Sep 04; Vol. 11, Issue 508, eaaz0307. DOI: 10.1126/scitranslmed.aaz0307.

Osterweil EK. A primate resource for autism. Science Translational Medicine. 2019 Jul 10;11(500). DOI: 10.1126/scitranslmed.aay3571.


Muscas M, Louros SR, and Osterweil EK. Lovastatin, not simvastatin, corrects core phenotypes in a mouse model of Fragile X Syndrome. eNeuro. 2019 May-Jun; 6(3): ENEURO.0097-19.2019. doi: 10.1523/ENEURO.0097-19.2019.


Osterweil EK. SHANK3 puts autism to sleep. Science Translational Medicine. 15 May 2019:
Vol. 11, Issue 492, eaax1714.
DOI: 10.1126/scitranslmed.aax1714.

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. Sustained correction of associative learning deficits following brief, early treatment in a rat model of Fragile X Syndrome. Science Translational Medicine. 2019 May 29;11(494). pii: eaao0498. doi: 10.1126/scitranslmed.aao0498.

*,✝ authors contributed equally

Osterweil EK. Upsetting the Excitatory-Inhibitory Balance Hypothesis of Autism. Science Translational Medicine. 2019 Mar 20;11(484). DOI: 10.1126/scitranslmed.aax2730.

Thomson SR*, Seo SS*, Barnes SA✝, Louros SR✝, Muscas M, Dando O, Kirby C, Hardingham GE, Wyllie DJA, Kind PC, and Osterweil EK. Cell type-specific translation profiling reveals a novel strategy for treating fragile X syndrome. Neuron. 2017 Aug 2; 95(3):550-563.e5. doi: 10.1016/j.neuron.2017.07.013.

*,✝ authors contributed equally

Stoppel LJ, Osterweil EK, and Bear MF. The mGluR Theory of fragile X syndrome. Fragile X Syndrome: From Genetics to Targeted Treatment. Willemsen, R. & Kooy, F. (Eds.). Academic Press, 2017. ISBN: 0128045078, 9780128045077.

2013 - 2016


Tao J, Wu H, Coronado A, De Laittre E, Osterweil EK, Zhang Y, and Bear MF. Negative allosteric modulation of mGluR5 partially corrects pathophysiology in a mouse model of Rett Syndrome. Journal of Neuroscience. 2016 Nov 23;36(47):11946-11958. DOI: 10.1523/JNEUROSCI.0672-16.2016.

Louros SR and Osterweil EK.  Perturbed proteostasis in autism spectrum disorders. Journal of Neurochemistry. 2016 Dec;139(6):1081-1092. doi: 10.1111/jnc.13723.

Barnes SA, Thomson SR, Kind PC, and Osterweil EK. FMRP and the pathophysiology of fragile X syndrome. Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability. Sala, C. & Verpelli, C. (Eds.). Academic Press, 2016. 8:113-128. ISBN: 9780128005330.


Barnes SA, Wijetunge LS, Jackson AD, Katsanevaki D, Osterweil EK, Komiyama NH, Grant SG, Bear MF, Nägerl UV, Kind PC, and Wyllie DJ. Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice. Journal of Neuroscience. 2015 Nov 11;35(45):15073-81. doi: 10.1523/JNEUROSCI.1087-15.2015.

Sidorov MS, Kaplan ES, Osterweil EK, Lindemann L, and Bear MF. Metabotropic glutamate receptor signaling is required for NMDA receptor-dependent ocular dominance plasticity and LTD in visual cortex. Proceedings of the National Academy of Sciences U. S. A. 2015 Oct 13;112(41):12852-7. doi: 10.1073/pnas.1512878112.

Till SM, Asiminas A, Jackson AD, Katsanevaki D, Barnes SA, Osterweil EK, Bear MF, Chattarji S, Wood ER, Wyllie DJ, and Kind PC. Conserved hippocampal cellular pathophysiology but distinct behavioural deficits in a new rat model of FXS. Human Molecular Genetics. 2015 Nov 1;24(21):5977-84. doi: 10.1093/hmg/ddv299.


Sidorov MS, Krueger DD, Taylor M, Gisin E, Osterweil EK, and Bear MF. Extinction of an instrumental response: A cognitive behavioral assay in Fmr1 knockout mice. Genes, Brain & Behavior. 2014 Jun;13(5):451-8. doi: 10.1111/gbb.12137.


Lohith TG, Osterweil EK, Fujita M, Jenko KJ, Bear MF, and Innis RB. Is metabotropic glutamate receptor 5 upregulated in prefrontal cortex in fragile X syndrome? Molecular Autism. 2013 May 24;4(1):15. doi: 10.1186/2040-2392-4-15.


Osterweil EK, Chuang SC, Chubykin AA, Sidorov M, Bianchi R, Wong RKS, and Bear MF. Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome. Neuron. 2013 Jan 23;77(2):243-50. doi: 10.1016/j.neuron.2012.01.034.

2012 and previous

Osterweil EK, Kind PC, and Bear MF.  Lifting the mood on treating fragile X. Biological Psychiatry. 2012, 72(11):895-7. DOI: 10.1016/j.biopsych.2012.09.017.

Auerbach BD, Osterweil EK, and Bear MF.  Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature. 2011, 480(7375):63-8. doi: 10.1038/nature10658.

Krueger DD, Osterweil EK, Chen SP, Tye LD, and Bear MF.  Cognitive dysfunction and prefrontal synaptic abnormalities in a mouse model of fragile X syndromeProceedings of the National Academy of Sciences. 2011, 108(6):2587-92. doi: 10.1073/pnas.1013855108.

Osterweil EK, Krueger DD, Reinhold K, and Bear MF. Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndromeJournal of Neuroscience. 2010, 30(46):15616-27. doi: 10.1523/JNEUROSCI.3888-10.2010.

Krueger DD, Osterweil EK, and Bear MF. Activation of mGluR5 Induces Rapid and Long-Lasting Protein Kinase D Phosphorylation in Hippocampal Neurons. Journal of Molecular Neuroscience. 2010, 42(1):1-8. doi: 10.1007/s12031-010-9338-9.

Bear MF, Dölen G, Osterweil E, and Nagarajan N. Fragile X: translation in action. Neuropsychopharmacology. 2008, 33(1):84-7. PMID:17940551.

Dölen G, Osterweil E, Rao BS, Smith GB, Auerbach BD, Chattarji S, and Bear MF. Correction of fragile X syndrome in mice. Neuron. 2007, 56(6):955-62. DOI: 10.1016/j.neuron.2007.12.001.

Krendel M, Osterweil EK, and Mooseker MS. Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis. FEBS Letters. 2007, 581(4):644-50. PMID:17257598.

Osterweil E, Wells DG, and Mooseker MS. A role for myosin VI in postsynaptic structure and glutamate receptor endocytosisJournal of Cell Biology. 2005, 168(2):329-38. DOI: 10.1083/jcb.200410091.

Graesser D, Solowiej A, Bruckner M, Osterweil E, Juedes A, Davis S, Ruddle NH, Engelhardt B, and Madri JA. Altered vascular permeability and early onset of experimental autoimmune encephalomyelitis in PECAM-1-deficient mice. Journal of Clinical Investigation. 2002, 109(3):383-92. DOI: 10.1172/JCI13595.

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