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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

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Amino Acid Sufficiency and mTOR Regulate p70 S6 Kinase and eIF-4E BP1 through a Common Effector Mechanism

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Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome

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Role for rapid dendritic protein synthesis in hippocampal mGluR-dependent long-term depression.

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Correction of Fragile X Syndrome in Mice

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The MEK/ERK cascade: From signaling specificity to diverse functions

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Fragile X Mental Retardation Protein Regulates Synaptic and Behavioral Plasticity to Repeated Cocaine Administration

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BDNF in fragile X syndrome

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Chronic Metabotropic Glutamate Receptor 5 Inhibition Corrects Local Alterations of Brain Activity and Improves Cognitive Performance in Fragile X Mice

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Audiogenic Seizures in theFmr1Knock-Out Mouse Are Induced byFmr1Deletion in Subcortical, VGlut2-Expressing Excitatory Neurons and Require Deletion in the Inferior Colliculus

Gonzalez, D., Tomasek, M. P., Hays, S. A., Sridhar, V., Ammanuel, S. G., Chang, C.-W., Pawlowski, K. S., Huber, K. M., & Gibson, J. R. (2019) · Journal of Neuroscience · doi:10.1523/jneurosci.0886-19.2019 · Cited by 64

Input-Output Relationship of CA1 Pyramidal Neurons Reveals Intact Homeostatic Mechanisms in a Mouse Model of Fragile X Syndrome

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Metabotropic Glutamate Receptor 5 Negative Allosteric Modulators: Discovery of 2-Chloro-4-[1-(4-fluorophenyl)-2,5-dimethyl-1 H -imidazol-4-ylethynyl]pyridine (Basimglurant, RO4917523), a Promising Novel Medicine for Psychiatric Diseases

Jaeschke, G., Kolczewski, S., Spooren, W., Vieira, E., Bitter-Stoll, N., Boissin, P., Borroni, E., Büttelmann, B., Ceccarelli, S., Clemann, N., et al. (2015) · Journal of Medicinal Chemistry · doi:10.1021/jm501642c · Cited by 66

β-Arrestin2 Couples Metabotropic Glutamate Receptor 5 to Neuronal Protein Synthesis and Is a Potential Target to Treat Fragile X

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Mechanisms underlying auditory processing deficits in Fragile X syndrome

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Dissociation of functional and structural plasticity of dendritic spines during NMDAR and mGluR-dependent long-term synaptic depression in wild-type and fragile X model mice

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Lithium reverses increased rates of cerebral protein synthesis in a mouse model of fragile X syndrome

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LTP Induction Translocates Cortactin at Distant Synapses in Wild-Type But NotFmr1Knock-Out Mice

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R-Baclofen Reverses a Social Behavior Deficit and Elevated Protein Synthesis in a Mouse Model of Fragile X Syndrome

Qin, M., Huang, T., Kader, M., Krych, L., Xia, Z., Burlin, T., Zeidler, Z., Zhao, T., & Smith, C. B. (2015) · International Journal of Neuropsychopharmacology · doi:10.1093/ijnp/pyv034 · Cited by 62

Inhibition of Group I Metabotropic Glutamate Receptors Reverses Autistic-Like Phenotypes Caused by Deficiency of the Translation Repressor eIF4E Binding Protein 2

Aguilar‐Valles, A., Matta‐Camacho, E., Khoutorsky, A., Gkogkas, C. G., Nader, K., Lacaille, J., & Sonenberg, N. (2015) · Journal of Neuroscience · doi:10.1523/jneurosci.4615-14.2015 · Cited by 62

Identification of Fragile X Syndrome Specific Molecular Markers in Human Fibroblasts: A Useful Model to Test the Efficacy of Therapeutic Drugs

Kumari, D., Bhattacharya, A., Nadel, J., Moulton, K., Zeak, N. M., Glicksman, A., Dobkin, C., Brick, D. J., Schwartz, P. H., Smith, C. B., et al. (2014) · Human Mutation · doi:10.1002/humu.22699 · Cited by 61

Increased translation as a novel pathogenic mechanism in Huntington’s disease

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Enhanced expression of ADCY1 underlies aberrant neuronal signalling and behaviour in a syndromic autism model

Sethna, F., Feng, W., Ding, Q., Robison, A. J., Feng, Y., & Wang, H. (2017) · Nature Communications · doi:10.1038/ncomms14359 · Cited by 62

Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome

McCamphill, P. K., Stoppel, L. J., Senter, R. K., Lewis, M. C., Heynen, A. J., Stoppel, D. C., Sridhar, V., Collins, K. A., Shi, X., Pan, J. Q., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.aam8572 · Cited by 60

Altered Cerebral Protein Synthesis in Fragile X Syndrome: Studies in Human Subjects and Knockout Mice

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Local cortical circuit correlates of altered EEG in the mouse model of Fragile X syndrome

Goswami, S., Cavalier, S., Sridhar, V., Huber, K. M., & Gibson, J. R. (2019) · Neurobiology of Disease · doi:10.1016/j.nbd.2019.01.002 · Cited by 55

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome

Thurman, A. J., Potter, L. A., Kim, K., Tassone, F., Banasik, A., Potter, S. N., Bullard, L., Nguyen, V., McDuffie, A., Hagerman, R., et al. (2020) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-020-09315-4 · Cited by 58

Degraded speech sound processing in a rat model of fragile X syndrome

Engineer, C., Centanni, T., Im, K. W., Rahebi, K. C., Buell, E. P., & Kilgard, M. (2014) · Brain Research · doi:10.1016/j.brainres.2014.03.049 · Cited by 44

Translational control at the synapse: role of RNA regulators

Iacoangeli, A., & Tiedge, H. (2012) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2012.11.001 · Cited by 57

7, 8-Dihydroxyflavone induces synapse expression of AMPA GluA1 and ameliorates cognitive and spine abnormalities in a mouse model of fragile X syndrome

Tian, M., Zeng, Y., Hu, Y., Yuan, X., Liu, S., Li, J., Lu, P., Sun, Y., Gao, L., Fu, D., et al. (2014) · Neuropharmacology · doi:10.1016/j.neuropharm.2014.09.006 · Cited by 55

Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome

Seo, S. S., Louros, S. R., Anstey, N. J., Gonzalez‐Lozano, M. A., Harper, C. B., Verity, N., Dando, O., Thomson, S. R., Darnell, J. C., Kind, P. C., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-30979-0 · Cited by 54

Cerebral organoids as tools to identify the developmental roots of autism

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Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis.

Raj, N., McEachin, Z. T., Harousseau, W., Zhou, Y., Zhang, F., Merritt-Garza, M. E., Taliaferro, J. M., Kalinowska, M., Marro, S. G., Hales, C. M., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.108991 · Cited by 54

Pathways to Drug Development for Autism Spectrum Disorders

Hampson, D. R., Gholizadeh, S., & Pacey, L. K. K. (2011) · Clinical Pharmacology & Therapeutics · doi:10.1038/clpt.2011.245 · Cited by 56

Homeostatic Intrinsic Plasticity Is Functionally Altered in Fmr1 KO Cortical Neurons

Bülow, P., Murphy, T. J., Bassell, G. J., & Wenner, P. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.01.035 · Cited by 50

Hyperexcitability and homeostasis in fragile X Syndrome.

Liu, X., Kumar, V., Tsai, N.-P., & Auerbach, B. D. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.805929 · Cited by 53

Metabotropic Glutamate Receptor I (mGluR1) Antagonism Impairs Cocaine-Induced Conditioned Place Preference via Inhibition of Protein Synthesis

Yu, F., Zhong, P., Liu, X., Sun, D., Gao, H., & Liu, Q.-S. (2013) · Neuropsychopharmacology · doi:10.1038/npp.2013.29 · Cited by 54

DSCR1 interacts with FMRP and is required for spine morphogenesis and local protein synthesis

Wang, W., Zhu, J. Z., Chang, K. T., & Min, K. (2012) · The EMBO Journal · doi:10.1038/emboj.2012.190 · Cited by 54

Targeting Translation Control with p70 S6 Kinase 1 Inhibitors to Reverse Phenotypes in Fragile X Syndrome Mice

Bhattacharya, A., Mamcarz, M., Mullins, C., Choudhury, A., Boyle, R. G., Smith, D. G., Walker, D. W., & Klann, E. (2016) · Neuropsychopharmacology · doi:10.1038/npp.2015.369 · Cited by 51

Elevated CaMKIIα and Hyperphosphorylation of Homer Mediate Circuit Dysfunction in a Fragile X Syndrome Mouse Model

Guo, W., Ceolin, L., Collins, K. A., Perroy, J., & Huber, K. M. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.11.013 · Cited by 53

Selective Disruption of Metabotropic Glutamate Receptor 5-Homer Interactions Mimics Phenotypes of Fragile X Syndrome in Mice

Guo, W., Molinaro, G., Collins, K. A., Hays, S. A., Paylor, R. E., Worley, P. F., Szumlinski, K. K., & Huber, K. M. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.2921-15.2016 · Cited by 54

Fragile X syndrome: From targets to treatments

Wijetunge, L. S., Chattarji, S., Wyllie, D. J. A., & Kind, P. C. (2012) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.11.028 · Cited by 54

Activation of Serotonin 5-HT7 Receptors Modulates Hippocampal Synaptic Plasticity by Stimulation of Adenylate Cyclases and Rescues Learning and Behavior in a Mouse Model of Fragile X Syndrome

Costa, L., Sardone, L. M., Bonaccorso, C. M., D’Antoni, S., Spatuzza, M., Gulisano, W., Tropea, M. R., Puzzo, D., Leopoldo, M., Lacivita, E., et al. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00353 · Cited by 49

Gaboxadol Normalizes Behavioral Abnormalities in a Mouse Model of Fragile X Syndrome

Cogram, P., Deacon, R. M. J., Warner‐Schmidt, J. L., von Schimmelmann, M. J., Abrahams, B. S., & During, M. J. (2019) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2019.00141 · Cited by 53

Inefficient Thermogenic Mitochondrial Respiration Due to Futile Proton Leak in a Mouse Model of Fragile X Syndrome

Griffiths, K. K., Wang, A., Wang, L., Tracey, M., Kleiner, G., Quinzii, C. M., Sun, L., Yang, G., Perez‐Zoghbi, J. F., Licznerski, P., et al. (2018) · The FASEB Journal · doi:10.1096/fj.202000283rr · Cited by 50

Reduced Juvenile Long-Term Depression in Tuberous Sclerosis Complex Is Mitigated in Adults by Compensatory Recruitment of mGluR5 and Erk Signaling

Potter, W. B., Basu, T., O’Riordan, K. J., Kirchner, A., Rutecki, P. A., Bürger, C., & Roopra, A. (2013) · PLoS Biology · doi:10.1371/journal.pbio.1001627 · Cited by 46

From FMRP Function to Potential Therapies for Fragile X Syndrome

Sethna, F., Moon, C., & Wang, H. (2013) · Neurochemical Research · doi:10.1007/s11064-013-1229-3 · Cited by 49

Phosphorylation of FMRP and alterations of FMRP complex underlie enhanced mLTD in adult rats triggered by early life seizures

Bernard, P. B., Castano, A. M., O’Leary, H., Simpson, K., Browning, M. D., & Benke, T. A. (2013) · Neurobiology of Disease · doi:10.1016/j.nbd.2013.06.013 · Cited by 48

Multiple drug treatments that increase cAMP signaling restore long-term memory and aberrant signaling in fragile X syndrome models

Choi, C. H., Schoenfeld, B. P., Bell, A. J., Hinchey, J., Rosenfelt, C., Gertner, M. J., Campbell, S. R., Emerson, D., Hinchey, P., Kollaros, M., et al. (2016) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2016.00136 · Cited by 46

The role of neurotrophic factors in novel, rapid psychiatric treatments

Kim, J., He, M. J., Widmann, A. K., & Lee, F. S. (2023) · Neuropsychopharmacology · doi:10.1038/s41386-023-01717-x · Cited by 49

Fragile X mice have robust mGluR5-dependent alterations of social behaviour in the Automated Tube Test

de Esch, C. E. F., van den Berg, W. E., Buijsen, R. A. M., Jaafar, I. A., Nieuwenhuizen-Bakker, I. M., Gasparini, F., Kushner, S. A., & Willemsen, R. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.12.021 · Cited by 45

Lovastatin corrects ERK pathway hyperactivation in fragile X syndrome: potential of platelet’s signaling cascades as new outcome measures in clinical trials

Pellerin, D., Çaku, A., Fradet, M., Bouvier, P., Dubé, J., & Corbin, F. (2016) · Biomarkers · doi:10.3109/1354750x.2016.1160289 · Cited by 49

Heterogeneity and convergence: the synaptic pathophysiology of autism

Baudouin, S. J. (2014) · European Journal of Neuroscience · doi:10.1111/ejn.12498 · Cited by 45

Convergent evidence for mGluR5 in synaptic and neuroinflammatory pathways implicated in ASD

Zantomio, D., Chana, G., Laskaris, L., Testa, R., Everall, I., Pantelis, C., & Skafidas, E. S. (2015) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2015.02.006 · Cited by 48

Resilience to audiogenic seizures is associated with p-ERK1/2 dephosphorylation in the subiculum of Fmr1 knockout mice

Curia, G., Gualtieri, F., Bartolomeo, R., Vezzali, R., & Biagini, G. (2013) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2013.00046 · Cited by 44

Negative Allosteric Modulation of mGluR5 Partially Corrects Pathophysiology in a Mouse Model of Rett Syndrome

Tao, J., Wu, H., Coronado, A. A., de Laittre, E. A., Osterweil, E. K., Zhang, Y., & Bear, M. F. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.0672-16.2016 · Cited by 46

Negative Effects of Chronic Rapamycin Treatment on Behavior in a Mouse Model of Fragile X Syndrome

Saré, R. M., Song, A., Loutaev, I., Cook, A. K., Maita, I., Lemons, A. H. S., Sheeler, C. A., & Smith, C. B. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00452 · Cited by 45

mGluR5 Negative Modulators for Fragile X: Treatment Resistance and Persistence

Stoppel, D. C., McCamphill, P. K., Senter, R. K., Heynen, A. J., & Bear, M. F. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.718953 · Cited by 42

Cell Type-Specific mRNA Dysregulation in Hippocampal CA1 Pyramidal Neurons of the Fragile X Syndrome Mouse Model

Ceolin, L., Bouquier, N., Boubaker-Vitre, J., Rialle, S., Séverac, D., Valjent, E., Perroy, J., & Puighermanal, E. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00340 · Cited by 40

Enhanced Akt/GSK‐3β/CREB signaling mediates the anti‐inflammatory actions of mGluR5 positive allosteric modulators in microglia and following traumatic brain injury in male mice

Bhat, S. A., Henry, R. J., Blanchard, A. C., Stoica, B. A., Loane, D. J., & Faden, A. I. (2020) · Journal of Neurochemistry · doi:10.1111/jnc.14954 · Cited by 42

Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models

Schreiber, J., Grimbergen, L.-A., Overwater, I. E., van der Vaart, T., Stedehouder, J., Schuhmacher, A. J., Guerra, C. E., Kushner, S. A., Jaarsma, D., & Elgersma, Y. (2017) · Scientific Reports · doi:10.1038/s41598-017-01218-0 · Cited by 39

Rapid, experience-dependent translation of neurogranin enables memory encoding

Jones, K. J., Templet, S., Zemoura, K., Kuźniewska, B., Pena, F. X., Hwang, H., Ding, L. J., Haensgen, H., Nguyen, S. J., Saenz, C., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1716750115 · Cited by 41

Modulation of Serotonin Receptors in Neurodevelopmental Disorders: Focus on 5-HT7 Receptor

Lee, J., Avramets, D., Jeon, B., & Choo, H. (2021) · Molecules · doi:10.3390/molecules26113348 · Cited by 41

Deletion of Fmr1 in Parvalbumin Inhibitory Neurons Leads to Dysregulated Translation and Selective Behavioral Deficits Associated with Fragile X Syndrome

Kalinowska, M., van der Lei, M. B., Kitiashvili, M., Mamcarz, M., Oliveira, M. M., Longo, F., & Klann, E. (2021) · Molecular Autism · doi:10.1186/s13229-022-00509-2 · Cited by 39

Review of targeted treatments in fragile X syndrome

Ligsay, A., & Hagerman, R. J. (2016) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2016.01045 · Cited by 38

Succinate promotes skeletal muscle protein synthesis via Erk1/2 signaling pathway

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Presynaptic protein synthesis and brain plasticity: From physiology to neuropathology

Perrone‐Capano, C., Volpicelli, F., Penna, E., Chun, J. T., & Crispino, M. (2021) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2021.102051 · Cited by 37

Lithium: A Promising Treatment for Fragile X Syndrome

Liu, Z., & Smith, C. B. (2014) · ACS Chemical Neuroscience · doi:10.1021/cn500077p · Cited by 39

Spatially and temporally regulating translation via mRNA ‐binding proteins in cellular and neuronal function

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A Comparative Perspective on Wnt/β-Catenin Signalling in Cell Fate Determination

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2-Methyl-6-(phenylethynyl) pyridine (MPEP) reverses maze learning and PSD-95 deficits in Fmr1 knock-out mice

Gandhi, R. M., Kogan, C. S., & Messier, C. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00070 · Cited by 36

Metabotropic glutamate receptor signaling is required for NMDA receptor-dependent ocular dominance plasticity and LTD in visual cortex

Sidorov, M. S., Kaplan, E. S., Osterweil, E. K., Lindemann, L., & Bear, M. F. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1512878112 · Cited by 35

The neurochemical basis for the treatment of autism spectrum disorders and Fragile X syndrome

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Therapeutic Potential and Limitation of Serotonin Type 7 Receptor Modulation

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Altered steady state and activity-dependent de novo protein expression in fragile X syndrome

Bowling, H. L., Bhattacharya, A., Zhang, G., Alam, D. H., Lebowitz, J. Z., Bohm-Levine, N., Lin, D., Singha, P., Mamcarz, M., Puckett, R. E., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-09553-8 · Cited by 33

Clinical potential, safety, and tolerability of arbaclofen in the treatment of autism spectrum disorder

Frye, R. E. (2014) · Drug Healthcare and Patient Safety · doi:10.2147/dhps.s39595 · Cited by 36

Fragile X syndrome neurobiology translates into rational therapy

Braat, S., & Kooy, R. F. (2014) · Drug Discovery Today · doi:10.1016/j.drudis.2014.01.013 · Cited by 35

Quantitative Phosphoproteomics of MurineFmr1-KO Cell Lines Provides New Insights into FMRP-Dependent Signal Transduction Mechanisms

Matić, K., Eninger, T., Bardoni, B., Davidovic, L., & Maček, B. (2014) · Journal of Proteome Research · doi:10.1021/pr5006372 · Cited by 33

Integrated transcriptome analysis of human iPS cells derived from a fragile X syndrome patient during neuronal differentiation

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Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment

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