Cited by 53Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology ResearchAutism Spectrum Disorder Research

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Hyperexcitability and homeostasis in fragile X Syndrome.

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Liu, Xiaopeng, Kumar, Vipendra, Tsai, Nien-Pei, Auerbach, Benjamin D.·2022·Frontiers in Molecular Neuroscience

DOI 10.3389/fnmol.2021.805929PMC PMC8770333

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Abstract

Fragile X Syndrome (FXS) is a leading inherited cause of autism and intellectual disability, resulting from a mutation in the FMR1 gene and subsequent loss of its protein product FMRP. Despite this simple genetic origin, FXS is a phenotypically complex disorder with a range of physical and neurocognitive disruptions. While numerous molecular and cellular pathways are affected by FMRP loss, there is growing evidence that circuit hyperexcitability may be a common convergence point that can account for many of the wide-ranging phenotypes seen in FXS. The mechanisms for hyperexcitability in FXS include alterations to excitatory synaptic function and connectivity, reduced inhibitory neuron activity, as well as changes to ion channel expression and conductance. However, understanding the impact of FMR1 mutation on circuit function is complicated by the inherent plasticity in neural circuits, which display an array of homeostatic mechanisms to maintain activity near set levels. FMRP is also an important regulator of activity-dependent plasticity in the brain, meaning that dysregulated plasticity can be both a cause and consequence of hyperexcitable networks in FXS. This makes it difficult to separate the direct effects of FMR1 mutation from the myriad and pleiotropic compensatory changes associated with it, both of which are likely to contribute to FXS pathophysiology. Here we will: (1) review evidence for hyperexcitability and homeostatic plasticity phenotypes in FXS models, focusing on similarities/differences across brain regions, cell-types, and developmental time points; (2) examine how excitability and plasticity disruptions interact with each other to ultimately contribute to circuit dysfunction in FXS; and (3) discuss how these synaptic and circuit deficits contribute to disease-relevant behavioral phenotypes like epilepsy and sensory hypersensitivity. Through this discussion of where the current field stands, we aim to introduce perspectives moving forward in FXS research.

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Figure 1 Neuronal and circuit hyperexcitability in Fragile X Syndrome (FXS). Hyperexcitability owing to loss of function of the FMR1 gene and its protein product FMRP manifests across levels of the CNS via a variety of mechanisms. (A) Several lines of evidence indicate that disrupted excitatory/inhibitory synaptic balance due to altered activity-dependent refinement of synaptic connectivity and impaired synaptic transmission and plasticity contribute to circuit hyperexcitability in FXS. In particular, there is evidence for a reduction in inhibitory synaptic transmission in several brain regions of FMR1 KO animals which, in addition to excessive excitatory connectivity in some cases, can result in increased E/I ratio and circuit hyperexcitability. (B) FMRP deficiency is also associated with dysregulated ion channel function and expression, resulting in changes to intrinsic excitability, action potential (AP) slope and duration, and increased the axon initial segment (AIS) length in some brain areas. AIS is enriched in many of the ion channels that are directly or indirectly regulated by FMRP. (C) Hyperexcitability in FXS can also arise from impaired homeostatic plasticity, which is an essential mechanism for maintaining basal network activity and preventing circuit hypo- or hyperexcitability. For instance, FMR1 KO neurons exhibit dysregulated homeostatic changes to intrinsic excitability in response to activity blockade, resulting in increased AP slope and cellular hyperexcitability compared to WT neurons.CC BY · PubMed Central

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Corticocortical inhibition in human motor cortex.
Kujirai, T., Caramia, M. D., Rothwell, J. C., Day, B. L., Thompson, P. D., Ferbert, A., Wroe, S. J., Asselman, P., & MARSDEN, C. D. (1993) · The Journal of Physiology · doi:10.1113/jphysiol.1993.sp019912 · Cited by 3,132
Parvalbumin neurons and gamma rhythms enhance cortical circuit performance
Sohal, V. S., Zhang, F., Yizhar, O., & Deisseroth, K. (2009) · Nature · doi:10.1038/nature07991 · Cited by 2,606
Driving fast-spiking cells induces gamma rhythm and controls sensory responses
Cardin, J. A., Carlén, M., Meletis, K., Knoblich, U., Zhang, F., Deisseroth, K., Tsai, L.-H., & Moore, C. I. (2009) · Nature · doi:10.1038/nature08002 · Cited by 2,603
Homeostatic plasticity in the developing nervous system
Turrigiano, G. G., & Nelson, S. B. (2004) · Nature Reviews Neuroscience · doi:10.1038/nrn1327 · Cited by 2,485
Neocortical excitation/inhibition balance in information processing and social dysfunction
Yizhar, O., Fenno, L. E., Prigge, M., Schneider, F., Davidson, T. J., O’Shea, D. J., Sohal, V. S., Goshen, I., Finkelstein, J., Paz, J. T., et al. (2011) · Nature · doi:10.1038/nature10360 · Cited by 2,454
Synaptic plasticity: taming the beast
Abbott, L. F., & Nelson, S. B. (2000) · Nature Neuroscience · doi:10.1038/81453 · Cited by 2,263 · cited 1×
“attenuate the hypo- or hyperexcitability owing to uncontrolled LTD or LTP, respectively, robust destabilizing forces in a circuit could pose devastating consequences on network activity (Abbott and Nelson, 2000).”
Background
Activity-dependent scaling of quantal amplitude in neocortical neurons
Turrigiano, G. G., Leslie, K. R., Desai, N. S., Rutherford, L. C., & Nelson, S. B. (1998) · Nature · doi:10.1038/36103 · Cited by 2,226
Variations on an inhibitory theme: phasic and tonic activation of GABAA receptors
Farrant, M., & Nusser, Z. (2005) · Nature Reviews Neuroscience · doi:10.1038/nrn1625 · Cited by 2,081
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Darnell, J. C., Van Driesche, S. J., Zhang, C., Hung, K. Y. S., Mele, A., Fraser, C. E., Stone, E. F., Chen, C., Fak, J. J., Chi, S. W., et al. (2011) · Cell · doi:10.1016/j.cell.2011.06.013 · Cited by 2,072
Synaptic scaling mediated by glial TNF-α
Stellwagen, D., & Malenka, R. C. (2006) · Nature · doi:10.1038/nature04671 · Cited by 1,715
Reactivation of Ocular Dominance Plasticity in the Adult Visual Cortex
Pizzorusso, T., Medini, P., Berardi, N., Chierzi, S., Fawcett, J. W., & Maffei, L. (2002) · Science · doi:10.1126/science.1072699 · Cited by 1,679
The mGluR theory of fragile X mental retardation
Bear, M. F., Huber, K. M., & Warren, S. T. (2004) · Trends in Neurosciences · doi:10.1016/j.tins.2004.04.009 · Cited by 1,580
The self-tuning neuron: synaptic scaling of excitatory synapses
Turrigiano, G. G. (2008) · Cell · doi:10.1016/j.cell.2008.10.008 · Cited by 1,533
Inhibition of inhibition in visual cortex: the logic of connections between molecularly distinct interneurons
Pfeffer, C. K., Xue, M., He, M., Huang, Z. J., & Scanziani, M. (2013) · Nature Neuroscience · doi:10.1038/nn.3446 · Cited by 1,353
Altered synaptic plasticity in a mouse model of fragile X mental retardation
Huber, K. M., Gallagher, S. M., Warren, S. T., & Bear, M. F. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.122205699 · Cited by 1,349
Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome
Brown, V., Jin, P., Ceman, S., Darnell, J. C., O'Donnell, W. T., Tenenbaum, S. A., Jin, X., Feng, Y., Wilkinson, K. D., Keene, J. D., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00568-2 · Cited by 1,109
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
Comery, T. A., Harris, J. B., Willems, P. J., Oostra, B. A., Irwin, S. A., Weiler, I. J., & Greenough, W. T. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.10.5401 · Cited by 1,046
Role for rapid dendritic protein synthesis in hippocampal mGluR-dependent long-term depression.
Huber, K., Kayser, M., & Bear, M. (2000) · Science · doi:10.1126/science.288.5469.1254 · Cited by 1,015
Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders
Nelson, S. B., & Valakh, V. (2015) · Neuron · doi:10.1016/j.neuron.2015.07.033 · Cited by 1,001
From the genetic architecture to synaptic plasticity in autism spectrum disorder
Bourgeron, T. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn3992 · Cited by 975
Neocortical Network Activity In Vivo Is Generated through a Dynamic Balance of Excitation and Inhibition
Haider, B., Duque, A., Hasenstaub, A. R., & McCormick, D. A. (2006) · The Journal of Neuroscience · doi:10.1523/jneurosci.5297-05.2006 · Cited by 962
Mechanisms of Sound Localization in Mammals
Grothe, B., Pecka, M., & McAlpine, D. (2010) · Physiological Reviews · doi:10.1152/physrev.00026.2009 · Cited by 956
Long-term depression in the CNS
Collingridge, G. L., Peineau, S., Howland, J. G., & Wang, Y. T. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2867 · Cited by 926
The other side of the engram: experience-driven changes in neuronal intrinsic excitability
Zhang, W., & Linden, D. J. (2003) · Nature reviews. Neuroscience · doi:10.1038/nrn1248 · Cited by 889
Fragile X syndrome
Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838
New insights into the classification and nomenclature of cortical GABAergic interneurons
DeFelipe, J., López-Cruz, P. L., Benavides-Piccione, R., Bielza, C., Larrañaga, P., Anderson, S., Burkhalter, A., Cauli, B., Fairén, A., Feldmeyer, D., et al. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3444 · Cited by 833
Plasticity in the intrinsic excitability of cortical pyramidal neurons
Desai, N. S., Rutherford, L. C., & Turrigiano, G. G. (1999) · Nature Neuroscience · doi:10.1038/9165 · Cited by 806
The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
Devys, D., Lutz, Y., Rouyer, N., Bellocq, J., & Mandel, J. (1993) · Nature Genetics · doi:10.1038/ng0893-335 · Cited by 781
Arc/Arg3.1 Mediates Homeostatic Synaptic Scaling of AMPA Receptors
Shepherd, J. D., Rumbaugh, G., Wu, J., Chowdhury, S., Plath, N., Kuhl, D., Huganir, R. L., & Worley, P. F. (2006) · Neuron · doi:10.1016/j.neuron.2006.08.034 · Cited by 779
FMR1 Protein: Conserved RNP Family Domains and Selective RNA Binding
Ashley, C. T., Wilkinson, K. D., Reines, D., & Warren, S. T. (1993) · Science · doi:10.1126/science.7692601 · Cited by 752
FMRP targets distinct mRNA sequence elements to regulate protein expression
Ascano, M., Mukherjee, N., Bandaru, P., Miller, J. B., Nusbaum, J. D., Corcoran, D. L., Langlois, C., Munschauer, M., Dewell, S., Hafner, M., et al. (2012) · Nature · doi:10.1038/nature11737 · Cited by 701
Hebb and homeostasis in neuronal plasticity
Turrigiano, G. G., & Nelson, S. B. (2000) · Current Opinion in Neurobiology · doi:10.1016/s0959-4388(00)00091-x · Cited by 693
Drosophila Fragile X-Related Gene Regulates the MAP1B Homolog Futsch to Control Synaptic Structure and Function
Zhang, Y., Bailey, A. M., Matthies, H. J. G., Renden, R., Smith, M. A., Speese, S. D., Rubin, G. M., & Broadie, K. S. (2001) · Cell · doi:10.1016/s0092-8674(01)00589-x · Cited by 651
Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation
Weiler, I. J., Irwin, S. A., Klintsova, A. Y., Spencer, C. M., Brazelton, A. D., Miyashiro, K., Comery, T. A., Patel, B., Eberwine, J., & Greenough, W. T. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.10.5395 · Cited by 644 · cited 1×
“Interestingly, FMRP itself is one of the proteins synthesized by mGluR 1/5 activation (Weiler et al., 1997; Antar et al., 2004; Hou et al., 2006).”
Background
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein.
Siomi, H., Siomi, M. C., Nussbaum, R. L., & Dreyfuss, G. (1993) · Cell · doi:10.1016/0092-8674(93)90420-u · Cited by 641
The clinical diagnostic utility of transcranial magnetic stimulation: Report of an IFCN committee
Chen, R. E., Cros, D. P., Currà, A., Lazzaro, V. D., Lefaucheur, J., Magistris, M. R., Mills, K. R., Rösler, K. M., Triggs, W. J., Ugawa, Y., et al. (2007) · Clinical Neurophysiology · doi:10.1016/j.clinph.2007.10.014 · Cited by 632
Parent Reports of Sensory Symptoms in Toddlers with Autism and Those with Other Developmental Disorders
Rogers, S. J., Hepburn, S., & Wehner, E. (2003) · Journal of Autism and Developmental Disorders · doi:10.1023/b:jadd.0000006000.38991.a7 · Cited by 609
The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP
Napoli, I., Mercaldo, V., Boyl, P. P., Eleuteri, B., Zalfa, F., De Rubeis, S., Di Marino, D., Mohr, E., Massimi, M., Falconi, M., et al. (2008) · Cell · doi:10.1016/j.cell.2008.07.031 · Cited by 609
Oxytocin-Mediated GABA Inhibition During Delivery Attenuates Autism Pathogenesis in Rodent Offspring
Tyzio, R., Nardou, R., Ferrari, D. C., Tsintsadze, T., Shahrokhi, A., Eftekhari, S., Khalilov, I., Tsintsadze, V., Brouchoud, C., Chazal, G., et al. (2014) · Science · doi:10.1126/science.1247190 · Cited by 601
Information Capacity and Transmission Are Maximized in Balanced Cortical Networks with Neuronal Avalanches
Shew, W. L., Yang, H., Yu, S. P., Roy, R., & Plenz, D. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.4637-10.2011 · Cited by 599
Abnormal Development of Dendritic Spines in FMR1 Knock-Out Mice
Nimchinsky, E. A., Oberlander, A. M., & Svoboda, K. (2001) · The Journal of Neuroscience · doi:10.1523/jneurosci.21-14-05139.2001 · Cited by 560
HOMEOSTATIC CONTROL OF NEURAL ACTIVITY: From Phenomenology to Molecular Design
Davis, G. W. (2006) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.28.061604.135751 · Cited by 543
Internalization of ionotropic glutamate receptors in response to mGluR activation
Snyder, E. M., Philpot, B. D., Huber, K. M., Dong, X., Fallon, J. R., & Bear, M. F. (2001) · Nature Neuroscience · doi:10.1038/nn746 · Cited by 539
High-conductance potassium channels of the SLO family
Salkoff, L., Butler, A., Ferreira, G., Santi, C. M., & Wei, A. D. (2006) · Nature reviews. Neuroscience · doi:10.1038/nrn1992 · Cited by 538
Imbalance of Neocortical Excitation and Inhibition and Altered UP States Reflect Network Hyperexcitability in the Mouse Model of Fragile X Syndrome
Gibson, J. R., Bartley, A. F., Hays, S. A., & Huber, K. M. (2008) · Journal of Neurophysiology · doi:10.1152/jn.90752.2008 · Cited by 529
Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective
Santoro, M. R., Bray, S. M., & Warren, S. T. (2012) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-011811-132457 · Cited by 528
Analysis of neocortex in three males with the Fragile X syndrome
Hinton, V. J., Brown, W. T., Wisniewski, K., & Rudelli, R. D. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320410306 · Cited by 527
Dendritic integration: 60 years of progress
Stuart, G. J., & Spruston, N. (2015) · Nature Neuroscience · doi:10.1038/nn.4157 · Cited by 516
FMRP Associates with Polyribosomes as an mRNP, and the I304N Mutation of Severe Fragile X Syndrome Abolishes This Association
Feng, Y., Absher, D., Eberhart, D. E., Brown, V., Malter, H. E., & Warren, S. T. (1997) · Molecular Cell · doi:10.1016/s1097-2765(00)80012-x · Cited by 511
Mechanisms governing activity-dependent synaptic pruning in the developing mammalian CNS
Faust, T. E., Gunner, G., & Schafer, D. P. (2021) · Nature reviews. Neuroscience · doi:10.1038/s41583-021-00507-y · Cited by 477
Dynamic Translational and Proteasomal Regulation of Fragile X Mental Retardation Protein Controls mGluR-Dependent Long-Term Depression
Hou, L., Antion, M. D., Hu, D., Spencer, C. M., Paylor, R., & Klann, E. (2006) · Neuron · doi:10.1016/j.neuron.2006.07.005 · Cited by 469
Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model
Bilousova, T. V., Dansie, L., Ngo, M., Aye, J., Charles, J. R., Ethell, D. W., & Ethell, I. M. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.061796 · Cited by 465
Trophic actions of GABA on neuronal development
Represa, A., & Ben‐Ari, Y. (2005) · Trends in Neurosciences · doi:10.1016/j.tins.2005.03.010 · Cited by 456
BDNF Has Opposite Effects on the Quantal Amplitude of Pyramidal Neuron and Interneuron Excitatory Synapses
Rutherford, L. C., Nelson, S. B., & Turrigiano, G. G. (1998) · Neuron · doi:10.1016/s0896-6273(00)80563-2 · Cited by 451
Persistent and specific influences of early acoustic environments on primary auditory cortex
Zhang, L. I., Bao, S., & Merzenich, M. M. (2001) · Nature Neuroscience · doi:10.1038/nn745 · Cited by 450
Rapid Synaptic Scaling Induced by Changes in Postsynaptic Firing
Ibata, K., Sun, Q., & Turrigiano, G. G. (2008) · Neuron · doi:10.1016/j.neuron.2008.02.031 · Cited by 446
Altered Neuronal and Circuit Excitability in Fragile X Syndrome
Contractor, A., Klyachko, V. A., & Portera‐Cailliau, C. (2015) · Neuron · doi:10.1016/j.neuron.2015.06.017 · Cited by 418
Selective reconfiguration of layer 4 visual cortical circuitry by visual deprivation
Maffei, A., Nelson, S. B., & Turrigiano, G. G. (2004) · Nature Neuroscience · doi:10.1038/nn1351 · Cited by 415
Increased excitation-inhibition ratio stabilizes synapse and circuit excitability in four autism mouse models
Antoine, M. W., Langberg, T., Schnepel, P., & Feldman, D. E. (2019) · Neuron · doi:10.1016/j.neuron.2018.12.026 · Cited by 413
Deletion of FMR1 in Purkinje Cells Enhances Parallel Fiber LTD, Enlarges Spines, and Attenuates Cerebellar Eyelid Conditioning in Fragile X Syndrome
Koekkoek, S. K. E., Yamaguchi, K., Milojkovic, B. A., Dortland, B. R., Ruigrok, T. J. H., Maex, R., Graaf, W. D., Smit, A. E., VanderWerf, F., Bakker, C. E., et al. (2005) · Neuron · doi:10.1016/j.neuron.2005.07.005 · Cited by 412
Metabotropic Glutamate Receptor Activation Regulates Fragile X Mental Retardation Protein and Fmr1 mRNA Localization Differentially in Dendrites and at Synapses
Antar, L. N., Afroz, R., Dictenberg, J. B., Carroll, R. C., & Bassell, G. J. (2004) · The Journal of Neuroscience · doi:10.1523/jneurosci.0099-04.2004 · Cited by 411
Synaptic Signaling by All-Trans Retinoic Acid in Homeostatic Synaptic Plasticity
Aoto, J., Nam, C. I., Poon, M. M., Ting, P., & Chen, L. (2008) · Neuron · doi:10.1016/j.neuron.2008.08.012 · Cited by 397
Hypersensitivity to mGluR5 and ERK1/2 Leads to Excessive Protein Synthesis in the Hippocampus of a Mouse Model of Fragile X Syndrome
Osterweil, E. K., Krueger, D. D., Reinhold, K., & Bear, M. F. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.3888-10.2010 · Cited by 384
Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs
Orefice, L. L., Zimmerman, A. L., Chirila, A. M., Sleboda, S. J., Head, J. P., & Ginty, D. D. (2016) · Cell · doi:10.1016/j.cell.2016.05.033 · Cited by 383
The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)
Bhakar, A. L., Dölen, G., & Bear, M. F. (2012) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-060909-153138 · Cited by 370
FMRP regulates neurotransmitter release and synaptic information transmission by modulating action potential duration via BK channels
Deng, P.-Y., Rotman, Z., Blundon, J. A., Cho, Y., Cui, J., Cavalli, V., Zakharenko, S. S., & Klyachko, V. A. (2013) · Neuron · doi:10.1016/j.neuron.2012.12.018 · Cited by 354
Activity Coregulates Quantal AMPA and NMDA Currents at Neocortical Synapses
Watt, A. J., van Rossum, M. C. W., MacLeod, K. M., Nelson, S. B., & Turrigiano, G. G. (2000) · Neuron · doi:10.1016/s0896-6273(00)81202-7 · Cited by 350
Fragile X mice develop sensory hyperreactivity to auditory stimuli
Chen, L., & Toth, M. (2001) · Neuroscience · doi:10.1016/s0306-4522(01)00036-7 · Cited by 345
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome
Berry-Kravis, E. M., Lindemann, L., Jønch, A. E., Apostol, G., Bear, M. F., Carpenter, R. L., Crawley, J. N., Curie, A., Des Portes, V., Hossain, F., et al. (2018) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2017.221 · Cited by 336
Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial
Berry-Kravis, E. M., Hessl, D., Rathmell, B., Zarevics, P., Cherubini, M., Walton-Bowen, K., Mu, Y., Nguyen, D. V., Gonzalez-Heydrich, J., Wang, P. P., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004214 · Cited by 328
Phosphorylation influences the translation state of FMRP-associated polyribosomes
Ceman, S., O'Donnell, W. T., Reed, M., Patton, S., Pohl, J., & Warren, S. T. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg350 · Cited by 327
Regulation of CNS synapses by neuronal MHC class I
Goddard, C. A., Butts, D. A., & Shatz, C. J. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0702023104 · Cited by 322
Delayed Stabilization of Dendritic Spines in Fragile X Mice
Cruz-Martin, A., Crespo, M., & Portera-Cailliau, C. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.0577-10.2010 · Cited by 321
Decreased expression of the GABAA receptor in fragile X syndrome
D'Hulst, C., De Geest, N., Reeve, S. P., Van Dam, D., De Deyn, P. P., Hassan, B. A., & Kooy, R. F. (2006) · Brain Research · doi:10.1016/j.brainres.2006.08.115 · Cited by 318
Multiple Autism-Linked Genes Mediate Synapse Elimination via Proteasomal Degradation of a Synaptic Scaffold PSD-95
Tsai, N.-P., Wilkerson, J. R., Guo, W., Maksimova, M. A., DeMartino, G. N., Cowan, C. W., & Huber, K. M. (2012) · Cell · doi:10.1016/j.cell.2012.11.040 · Cited by 316
Self-citation
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice
de Vrij, F. M. S., Levenga, J., van der Linde, H. C., Koekkoek, S. K., De Zeeuw, C. I., Nelson, D. L., Oostra, B. A., & Willemsen, R. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.04.002 · Cited by 313
Defective GABAergic Neurotransmission and Pharmacological Rescue of Neuronal Hyperexcitability in the Amygdala in a Mouse Model of Fragile X Syndrome
Olmos-Serrano, J. L., Paluszkiewicz, S. M., Martin, B. S., Kaufmann, W. E., Corbin, J. G., & Huntsman, M. M. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.1714-10.2010 · Cited by 309
Hyporesponsiveness to social and nonsocial sensory stimuli in children with autism, children with developmental delays, and typically developing children
Baranek, G. T., Watson, L. R., Boyd, B. A., Poe, M. D., David, F. J., & McGuire, L. (2013) · Development and Psychopathology · doi:10.1017/s0954579412001071 · Cited by 307
Deletion ofKv4.2Gene Eliminates Dendritic A-Type K+Current and Enhances Induction of Long-Term Potentiation in Hippocampal CA1 Pyramidal Neurons
Chen, X., Yuan, L., Zhao, C., Birnbaum, S. G., Frick, A., Jung, W. E., Schwarz, T. L., Sweatt, J. D., & Johnston, D. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.2667-06.2006 · Cited by 306
Postsynaptic expression of homeostatic plasticity at neocortical synapses
Wierenga, C. J., Ibata, K., & Turrigiano, G. G. (2005) · The Journal of Neuroscience · doi:10.1523/jneurosci.5217-04.2005 · Cited by 306
Fragile X mouse: strain effects of knockout phenotype and evidence suggesting deficient amygdala function
Paradee, W., Melikian, H. E., Rasmussen, D. L., Kenneson, A., Conn, P. J., & Warren, S. T. (1999) · Neuroscience · doi:10.1016/s0306-4522(99)00285-7 · Cited by 305 · cited 1×
“…found no alteration to basal synaptic transmission or long-term potentiation (LTP) in the hippocampus of FMR1 KOmice (Godfraind et al., 1996; Paradee et al., 1999), although subsequent studies have found subtle LTP deficits in the hippocampus (Lauterborn et al., 2007; Hu et al., 2008) and…”
Background
Metabotropic Receptor-Dependent Long-Term Depression Persists in the Absence of Protein Synthesis in the Mouse Model of Fragile X Syndrome
Nosyreva, E. D., & Huber, K. M. (2006) · Journal of Neurophysiology · doi:10.1152/jn.01316.2005 · Cited by 301
A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome
Leigh, M. J. S., Nguyen, D. V., Mu, Y., Winarni, T. I., Schneider, A., Chechi, T., Polussa, J., Doucet, P., Tassone, F., Rivera, S. M., et al. (2013) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e318287cd17 · Cited by 298
Audiogenic Seizures Susceptibility in Transgenic Mice with Fragile X Syndrome
Musumeci, S. A., Bosco, P., Calabrese, G., Bakker, C., De Sarro, G. B., Elia, M., Ferri, R., & Oostra, B. A. (2000) · Epilepsia · doi:10.1111/j.1528-1157.2000.tb01499.x · Cited by 289
Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain
Abitbol, M. M., Ménini, C., Delezoide, A., Rhyner, T. A., Vekemans, M. J. J., & Mallet, J. J. (1993) · Nature Genetics · doi:10.1038/ng0693-147 · Cited by 284
Removal of Perineuronal Nets Unlocks Juvenile Plasticity Through Network Mechanisms of Decreased Inhibition and Increased Gamma Activity
Lensjø, K. K., Lepperød, M. E., Dick, G., Hafting, T., & Fyhn, M. (2017) · The Journal of Neuroscience · doi:10.1523/jneurosci.2504-16.2016 · Cited by 281
The fragile X mental retardation protein is required for type-I metabotropic glutamate receptor-dependent translation of PSD-95
Todd, P. K., Mack, K. J., & Malter, J. S. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2336265100 · Cited by 280
Circuit level defects in the developing neocortex of fragile X mice
Gonçalves, J. T., Anstey, J. E., Golshani, P., & Portera-Cailliau, C. (2013) · Nature Neuroscience · doi:10.1038/nn.3415 · Cited by 279
Learning-induced neural plasticity of speech processing before birth
Partanen, E., Kujala, T., Näätänen, R., Liitola, A., Sambeth, A., & Huotilainen, M. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1302159110 · Cited by 278
Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice.
Frankland, P. W., Wang, Y., Rosner, B., Shimizu, T., Balleine, B. W., Dykens, E. M., Ornitz, E. M., & Silva, A. J. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001432 · Cited by 275
Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells
Stefani, G., Fraser, C. E., Darnell, J. C., & Darnell, R. B. (2004) · The Journal of Neuroscience · doi:10.1523/jneurosci.2306-04.2004 · Cited by 274
Epilepsy in fragile X syndrome
Berry‐Kravis, E. (2002) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2002.tb00277.x · Cited by 271
Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack
Brown, M. R., Kronengold, J., Gazula, V., Chen, Y., Strumbos, J. G., Sigworth, F. J., Navaratnam, D. S., & Kaczmarek, L. K. (2010) · Nature Neuroscience · doi:10.1038/nn.2563 · Cited by 261
The fra(X) syndrome: Neurological, electrophysiological, and neuropathological abnormalities
Wisniewski, K. E., Segan, S. M., Miezejeski, C. M., Sersen, E. A., & Rudelli, R. D. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320380267 · Cited by 261
Local functions for FMRP in axon growth cone motility and activity-dependent regulation of filopodia and spine synapses
Antar, L. N., Li, C., Zhang, H., Carroll, R. C., & Bassell, G. J. (2006) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2006.02.001 · Cited by 259
Toward Fulfilling the Promise of Molecular Medicine in Fragile X Syndrome
Krueger, D. D., & Bear, M. F. (2011) · Annual Review of Medicine · doi:10.1146/annurev-med-061109-134644 · Cited by 259
Fragile X mental retardation protein and synaptic plasticity
Sidorov, M. S., Auerbach, B. D., & Bear, M. F. (2013) · Molecular Brain · doi:10.1186/1756-6606-6-15 · Cited by 255
Self-citation
Critical period plasticity is disrupted in the barrel cortex of FMR1 knockout mice
Harlow, E. G., Till, S. M., Russell, T. A., Wijetunge, L. S., Kind, P., & Contractor, A. (2010) · Neuron · doi:10.1016/j.neuron.2010.01.024 · Cited by 252
Epilepsy and EEG Findings in Males with Fragile X Syndrome
Musumeci, S. A., Hagerman, R. J., Ferri, R., Bosco, P., Bernardina, B. D., Tassinari, C. A., Sarro, G. D., & Elia, M. (1999) · Epilepsia · doi:10.1111/j.1528-1157.1999.tb00824.x · Cited by 250
Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABA B Receptors with Arbaclofen
Henderson, C., Wijetunge, L., Kinoshita, M. N., Shumway, M., Hammond, R. S., Postma, F. R., Brynczka, C., Rush, R., Thomas, A., Paylor, R., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004218 · Cited by 249
Major defects in neocortical GABAergic inhibitory circuits in mice lacking the fragile X mental retardation protein
Selby, L., Zhang, C., & Sun, Q.-Q. (2007) · Neuroscience Letters · doi:10.1016/j.neulet.2006.11.062 · Cited by 245
Brain-Derived Neurotrophic Factor Rescues Synaptic Plasticity in a Mouse Model of Fragile X Syndrome
Lauterborn, J. C., Rex, C. S., Kramár, E. A., Chen, L. Y., Pandyarajan, V., LYNCH, G. S., & Gall, C. M. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.2624-07.2007 · Cited by 244
Alzheimer’s Disease: From Firing Instability to Homeostasis Network Collapse
Frère, S. G. A., & Slutsky, I. (2018) · Neuron · doi:10.1016/j.neuron.2017.11.028 · Cited by 242
Metabotropic Glutamate Receptors Trigger Homosynaptic Protein Synthesis to Prolong Long-Term Potentiation
Raymond, C. R., Thompson, V. L., Tate, W. P., & Abraham, W. C. (2000) · Journal of Neuroscience · doi:10.1523/jneurosci.20-03-00969.2000 · Cited by 240
Dendritic channelopathies contribute to neocortical and sensory hyperexcitability in Fmr1−/y mice
Zhang, Y., Bonnan, A., Bony, G., Férézou, I., Pietropaolo, S., Ginger, M. R., Sans, N., Rossier, J., Oostra, B. A., LeMasson, G., et al. (2014) · Nature Neuroscience · doi:10.1038/nn.3864 · Cited by 239
Synaptic scaling requires the GluR2 subunit of the AMPA receptor
Gainey, M. A., Hurvitz-Wolff, J. R., Lambo, M. E., & Turrigiano, G. G. (2009) · The Journal of Neuroscience · doi:10.1523/jneurosci.3753-08.2009 · Cited by 234
Metabotropic Glutamate Receptor-Mediated Long-Term Depression: Molecular Mechanisms
Gladding, C. M., Fitzjohn, S. M., & Molnár, E. (2009) · Pharmacological Reviews · doi:10.1124/pr.109.001735 · Cited by 233
Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome
Galvez, R., & Greenough, W. T. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30709 · Cited by 231
The Developmental Switch in GABA Polarity Is Delayed in Fragile X Mice
He, Q., Nomura, T., Xu, J., & Contractor, A. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.4447-13.2014 · Cited by 230
Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome
Osterweil, E. K., Chuang, S.-C., Chubykin, A. A., Sidorov, M., Bianchi, R., Wong, R. K. S., & Bear, M. F. (2013) · Neuron · doi:10.1016/j.neuron.2012.01.034 · Cited by 230
How synaptic pruning shapes neural wiring during development and, possibly, in disease
Sakai, J. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2010281117 · Cited by 221
Downregulation of Tonic GABAergic Inhibition in a Mouse Model of Fragile X Syndrome
Curia, G., Papouin, T., Séguéla, P., & Avoli, M. (2009) · Cerebral Cortex · doi:10.1093/cercor/bhn159 · Cited by 218
The trouble with spines in fragile X syndrome: density, maturity and plasticity
He, C. X., & Portera‐Cailliau, C. (2012) · Neuroscience · doi:10.1016/j.neuroscience.2012.03.049 · Cited by 217
GABAB Receptor Agonist R-Baclofen Reverses Social Deficits and Reduces Repetitive Behavior in Two Mouse Models of Autism
Silverman, J. L., Pride, M. C., Hayes, J. E., Puhger, K. R., Butler-Struben, H. M., Baker, S., & Crawley, J. N. (2015) · Neuropsychopharmacology · doi:10.1038/npp.2015.66 · Cited by 215
Molecular-clinical correlations in males with an expanded FMR1 mutation
Merenstein, S. A., Sobesky, W. E., Taylor, A. K., Riddle, J. E., Tran, H. X., & Hagerman, R. J. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960809)64:2 · Cited by 213
Decreased GABAA receptor expression in the seizure-prone fragile X mouse
Idrissi, A. E., Ding, X., Scalia, J., Trenkner, E., Brown, W. T., & Dobkin, C. (2004) · Neuroscience Letters · doi:10.1016/j.neulet.2004.11.087 · Cited by 210
Cross-modal regulation of synaptic AMPA receptors in primary sensory cortices by visual experience
Goel, A., Jiang, B., Xu, L. W., Song, L., Kirkwood, A., & Lee, H.-K. (2006) · Nature Neuroscience · doi:10.1038/nn1725 · Cited by 210
Dendritic spine instability and insensitivity to modulation by sensory experience in a mouse model of fragile X syndrome
Pan, F., Aldridge, G. M., Greenough, W. T., & Gan, W.-B. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1012496107 · Cited by 208
The FXG: a presynaptic fragile X granule expressed in a subset of developing brain circuits
Christie, S. B., Akins, M. R., Schwob, J. E., & Fallon, J. R. (2009) · The Journal of Neuroscience · doi:10.1523/jneurosci.3937-08.2009 · Cited by 208
A novel function for fragile X mental retardation protein in translational activation
Bechara, E. G., Didiot, M. C., Melko, M., Davidovic, L., Bensaid, M., Martin, P., Castets, M., Pognonec, P., Khandjian, E. W., Moine, H., et al. (2009) · PLoS Biology · doi:10.1371/journal.pbio.1000016 · Cited by 206
Circuit and Plasticity Defects in the Developing Somatosensory Cortex of Fmr1 Knock-Out Mice
Bureau, I., Shepherd, G. M. G., & Svoboda, K. (2008) · The Journal of Neuroscience · doi:10.1523/jneurosci.1076-08.2008 · Cited by 201
Activity-Dependent Ubiquitination of GluA1 Mediates a Distinct AMPA Receptor Endocytosis and Sorting Pathway
Schwarz, L. A., Hall, B. J., & Patrick, G. N. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.3686-10.2010 · Cited by 199
Sensory processing in autism spectrum disorders and Fragile X syndrome—From the clinic to animal models
Sinclair, D., Oranje, B., Razak, K. A., Siegel, S. J., & Schmid, S. (2017) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.05.029 · Cited by 198
The Drosophila Fragile X Gene Negatively Regulates Neuronal Elaboration and Synaptic Differentiation
Pan, L., Zhang, Y., Woodruff, E. A., & Broadie, K. S. (2004) · Current Biology · doi:10.1016/j.cub.2004.09.085 · Cited by 197
Major histocompatibility complex class I proteins in brain development and plasticity
Elmer, B. M., & McAllister, A. K. (2012) · Trends in Neurosciences · doi:10.1016/j.tins.2012.08.001 · Cited by 196
GABAB Receptors: Physiological Functions and Mechanisms of Diversity
Pinard, A., Seddik, R., & Bettler, B. (2010) · Advances in pharmacology · doi:10.1016/s1054-3589(10)58010-4 · Cited by 193
Spontaneous Network Activity in the Embryonic Spinal Cord Regulates AMPAergic and GABAergic Synaptic Strength
Gonzalez-Islas, C., & Wenner, P. (2006) · Neuron · doi:10.1016/j.neuron.2006.01.017 · Cited by 191
Prolonged Epileptiform Discharges Induced by Altered Group I Metabotropic Glutamate Receptor-Mediated Synaptic Responses in Hippocampal Slices of a Fragile X Mouse Model
Chuang, S.-C., Zhao, W., Bauchwitz, R., Yan, Q., Bianchi, R., & Wong, R. K. S. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.1777-05.2005 · Cited by 190
Increased Threshold for Spike-Timing-Dependent Plasticity Is Caused by Unreliable Calcium Signaling in Mice Lacking Fragile X Gene Fmr1
Meredith, R. M., Holmgren, C. D., Weidum, M., Burnashev, N., & Mansvelder, H. D. (2007) · Neuron · doi:10.1016/j.neuron.2007.04.028 · Cited by 190
Reduced habituation of auditory evoked potentials indicate cortical hyper-excitability in Fragile X Syndrome.
Ethridge, L. E., White, S. P., Mosconi, M. W., Wang, J., Byerly, M. J., & Sweeney, J. A. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.48 · Cited by 188
Fragile X spectrum disorders
Lozano, R., Rosero, C. A., & Hagerman, R. J. (2014) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2014.01022 · Cited by 186
Dendritic spine abnormalities in the occipital cortex of C57BL/6Fmr1 knockout mice
McKinney, B. C., Grossman, A. W., Elisseou, N. M., & Greenough, W. T. (2005) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30183 · Cited by 184
Arbaclofen in fragile X syndrome: results of phase 3 trials
Berry-Kravis, E., Hagerman, R., Visootsak, J., Budimirovic, D., Kaufmann, W. E., Cherubini, M., Zarevics, P., Walton-Bowen, K., Wang, P., Bear, M. F., et al. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-016-9181-6 · Cited by 183
Fragile X Protein FMRP Is Required for Homeostatic Plasticity and Regulation of Synaptic Strength by Retinoic Acid
Soden, M. E., & Chen, L. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.3660-10.2010 · Cited by 181
Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible
Goel, A., Cantu, D. A., Guilfoyle, J. L., Chaudhari, G., Newadkar, A., Todisco, B., de Alba, D., Kourdougli, N., Schmitt, L., Pedapati, E. V., et al. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0231-0 · Cited by 181
Modulation of Perineuronal Nets and Parvalbumin with Developmental Song Learning
Balmer, T. S., Carels, V. M., Frisch, J. L., & Nick, T. A. (2009) · The Journal of Neuroscience · doi:10.1523/jneurosci.2974-09.2009 · Cited by 181
Targeting Homeostatic Synaptic Plasticity for Treatment of Mood Disorders
Kavalali, E. T., & Monteggia, L. M. (2020) · Neuron · doi:10.1016/j.neuron.2020.05.015 · Cited by 179
A resting EEG study of neocortical hyperexcitability and altered functional connectivity in fragile X syndrome.
Wang, J., Ethridge, L. E., Mosconi, M. W., White, S. P., Binder, D. K., Pedapati, E. V., Erickson, C. A., Byerly, M. J., & Sweeney, J. A. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-017-9191-z · Cited by 176
Abnormal Striatal GABA Transmission in the Mouse Model for the Fragile X Syndrome
Centonze, D., Rossi, S., Mercaldo, V., Napoli, I., Ciotti, M. T., De Chiara, V., Musella, A., Prosperetti, C., Calabresi, P., Bernardi, G., et al. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2007.09.008 · Cited by 171
Ras Signaling Mechanisms Underlying Impaired GluR1-Dependent Plasticity Associated with Fragile X Syndrome
Hu, H., Qin, Y., Bochorishvili, G., Zhu, Y., Aelst, L. V., & Zhu, J. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.1496-08.2008 · Cited by 168
A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies
Kang, Y., Zhou, Y., Li, Y., Han, Y., Xu, J., Niu, W., Li, Z., Liu, S., Feng, H., Huang, W., et al. (2021) · Nature Neuroscience · doi:10.1038/s41593-021-00913-6 · Cited by 168
Expression profiling suggests underexpression of the GABAA receptor subunit δ in the fragile X knockout mouse model
Gantois, I., Vandesompele, J., Speleman, F., Reyniers, E., D’Hooge, R., Severijnen, L.-A. W. F. M., Willemsen, R., Tassone, F., & Kooy, R. F. (2005) · Neurobiology of Disease · doi:10.1016/j.nbd.2005.07.017 · Cited by 166
Genetic Reduction of Matrix Metalloproteinase-9 Promotes Formation of Perineuronal Nets Around Parvalbumin-Expressing Interneurons and Normalizes Auditory Cortex Responses in Developing Fmr1 Knock-Out Mice
Wen, T. H., Afroz, S., Reinhard, S. M., Palacios, A. R., Tapia, K., Binder, D. K., Razak, K. A., & Ethell, I. M. (2018) · Cerebral Cortex · doi:10.1093/cercor/bhx258 · Cited by 165 · cited 3×
“Thus, it is possible that the abnormal development of PNNs and PV cells observed in the cortex of FMR1 KO animals (Selby et al., 2007; Wen et al., 2018) may underly delayed or impaired critical period plasticity seen at excitatory synapses in these animals (Harlow et al.”
BackgroundInfluential
Neural synchronization deficits linked to cortical hyper-excitability and auditory hypersensitivity in fragile X syndrome
Ethridge, L. E., White, S. P., Mosconi, M. W., Wang, J., Pedapati, E. V., Erickson, C. A., Byerly, M., & Sweeney, J. A. (2017) · Molecular Autism · doi:10.1186/s13229-017-0140-1 · Cited by 164
Altered Neocortical Rhythmic Activity States inFmr1KO Mice Are Due to Enhanced mGluR5 Signaling and Involve Changes in Excitatory Circuitry
Hays, S. A., Huber, K. M., & Gibson, J. R. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.3157-11.2011 · Cited by 163
Nedd4‐mediated AMPA receptor ubiquitination regulates receptor turnover and trafficking
Lin, A. W., Hou, Q., Jarzylo, L. A., Amato, S., Gilbert, J. P., Shang, F., & Man, H. (2011) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2011.07221.x · Cited by 161
Fragile X mental retardation protein regulates protein expression and mRNA translation of the potassium channel Kv4.2
Gross, C., Yao, X., Pong, D. L., Jeromin, A., & Bassell, G. J. (2011) · The Journal of Neuroscience · doi:10.1523/jneurosci.6661-10.2011 · Cited by 161
The fragile x mental retardation protein binds and regulates a novel class of mRNAs containing u rich target sequences
Chen, L., Yun, S.-W., Seto, J., Liu, W., & Toth, M. (2003) · Neuroscience · doi:10.1016/s0306-4522(03)00406-8 · Cited by 160
Cortical HCN channels: Function, trafficking and plasticity
Shah, M. M. (2014) · The Journal of Physiology · doi:10.1113/jphysiol.2013.270058 · Cited by 160
Alterations in the auditory startle response in Fmr1 targeted mutant mouse models of fragile X syndrome
Nielsen, D. M., Derber, W. J., McClellan, D. A., & Crnic, L. S. (2002) · Brain Research · doi:10.1016/s0006-8993(01)03309-1 · Cited by 154
Translation-relevant EEG phenotypes in a mouse model of Fragile X Syndrome.
Lovelace, J. W., Ethell, I. M., Binder, D. K., & Razak, K. A. (2018) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.03.012 · Cited by 154
Bidirectional Regulation of Dendritic Voltage-Gated Potassium Channels by the Fragile X Mental Retardation Protein
Lee, H. Y., Ge, W., Huang, W. C., He, Y., Wang, G. X., Rowson-Baldwin, A., Smith, S. J., Jan, Y. N., & Jan, L. Y. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.033 · Cited by 153
PKA-GluA1 coupling via AKAP5 controls AMPA receptor phosphorylation and cell-surface targeting during bidirectional homeostatic plasticity
Diering, G. H., Gustina, A. S., & Huganir, R. L. (2014) · Neuron · doi:10.1016/j.neuron.2014.09.024 · Cited by 153
Evidence for a Fragile X Mental Retardation Protein-Mediated Translational Switch in Metabotropic Glutamate Receptor-Triggered Arc Translation and Long-Term Depression
Niere, F., Wilkerson, J. R., & Huber, K. M. (2012) · The Journal of Neuroscience · doi:10.1523/jneurosci.4650-11.2012 · Cited by 153
Fragile X Mental Retardation Protein Is Required for Synapse Elimination by the Activity-Dependent Transcription Factor MEF2
Pfeiffer, B. E., Zang, T., Wilkerson, J. R., Taniguchi, M., Maksimova, M. A., Smith, L. N., Cowan, C. W., & Huber, K. M. (2010) · Neuron · doi:10.1016/j.neuron.2010.03.017 · Cited by 153
The interplay between Hebbian and homeostatic synaptic plasticity
Vitureira, N., & Goda, Y. (2013) · Journal of Cell Biology · doi:10.1083/jcb.201306030 · Cited by 152
Tactile Defensiveness and Impaired Adaptation of Neuronal Activity in the Fmr1 Knock-Out Mouse Model of Autism
He, C. X., Cantu, D. A., Mantri, S. S., Zeiger, W., Goel, A., & Portera‐Cailliau, C. (2017) · Journal of Neuroscience · doi:10.1523/jneurosci.0651-17.2017 · Cited by 148
Sensory Processing Phenotypes in Fragile X Syndrome
Rais, M., Binder, D. K., Razak, K. A., & Ethell, I. M. (2018) · ASN NEURO · doi:10.1177/1759091418801092 · Cited by 143
Fragile X mental retardation protein controls synaptic vesicle exocytosis by modulating N-type calcium channel density
Ferron, L., Nieto‐Rostro, M., Cassidy, J. S., & DOLPHIN, A. C. (2014) · Nature Communications · doi:10.1038/ncomms4628 · Cited by 140
Altered auditory processing in a mouse model of fragile X syndrome
Rotschafer, S. E., & Razak, K. A. (2013) · Brain Research · doi:10.1016/j.brainres.2013.02.038 · Cited by 138
Fragile X mental retardation protein is required for rapid experience-dependent regulation of the potassium channel Kv3.1b
Strumbos, J. G., Brown, M. R., Kronengold, J., Polley, D. B., & Kaczmarek, L. K. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.1125-10.2010 · Cited by 135
PSD-95 and PSD-93 Play Critical But Distinct Roles in Synaptic Scaling Up and Down
Sun, Q., & Turrigiano, G. G. (2011) · The Journal of Neuroscience · doi:10.1523/jneurosci.5616-10.2011 · Cited by 135
The GABAA Receptor Agonist THIP Ameliorates Specific Behavioral Deficits in the Mouse Model of Fragile X Syndrome
Olmos-Serrano, J. L., Corbin, J. G., & Burns, M. P. (2011) · Developmental Neuroscience · doi:10.1159/000332884 · Cited by 134
Synaptic retinoic acid signaling and homeostatic synaptic plasticity
Chen, L., Lau, A. G., & Sarti, F. (2012) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.12.004 · Cited by 134
Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures
Myrick, L. K., Deng, P.-Y., Hashimoto, H., Oh, Y. M., Cho, Y., Poidevin, M. J., Suhl, J. A., Visootsak, J., Cavalli, V., Jin, P., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1423094112 · Cited by 133
Neural Delays Shape Selectivity to Interaural Intensity Differences in the Lateral Superior Olive
Park, T. J., Grothe, B., Pollak, G. D., Schuller, G., & Koch, U. (1996) · Journal of Neuroscience · doi:10.1523/jneurosci.16-20-06554.1996 · Cited by 123
Abnormal mGlu 5 Receptor/Endocannabinoid Coupling in Mice Lacking FMRP and BC1 RNA
Maccarrone, M., Rossi, S., Bari, M., Chiara, V. D., Rapino, C., Musella, A., Bernardi, G., Bagni, C., & Centonze, D. (2010) · Neuropsychopharmacology · doi:10.1038/npp.2010.19 · Cited by 120
Matrix metalloproteinase-9 deletion rescues auditory evoked potential habituation deficit in a mouse model of Fragile X Syndrome
Lovelace, J. W., Wen, T. H., Reinhard, S., Hsu, M. S., Sidhu, H., Ethell, I. M., Binder, D. K., & Razak, K. A. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.02.002 · Cited by 115
The Impact of Structural Heterogeneity on Excitation-Inhibition Balance in Cortical Networks
Landau, I. D., Egger, R., Dercksen, V. J., Oberlaender, M., & Sompolinsky, H. (2016) · Neuron · doi:10.1016/j.neuron.2016.10.027 · Cited by 114
Developmental Trajectories and Correlates of Sensory Processing in Young Boys with Fragile X Syndrome
Baranek, G. T., Roberts, J. E., David, F. J., Sideris, J. H., Mirrett, P., Hatton, D. D., & Bailey, D. B. (2008) · Physical & Occupational Therapy In Pediatrics · doi:10.1300/j006v28n01_06 · Cited by 113
Channelopathies in fragile X syndrome
Deng, P., & Klyachko, V. A. (2021) · Nature reviews. Neuroscience · doi:10.1038/s41583-021-00445-9 · Cited by 112
The Fragile X mental retardation protein regulates matrix metalloproteinase 9 mRNA at synapses.
Janusz, A., Miłek, J., Perycz, M., Pacini, L., Bagni, C., Kaczmarek, L., & Dziembowska, M. (2013) · The Journal of Neuroscience · doi:10.1523/jneurosci.2207-13.2013 · Cited by 112
Impaired Dendritic Expression and Plasticity of h-Channels in the fmr1 Mouse Model of Fragile X Syndrome
Brager, D. H., Akhavan, A. R., & Johnston, D. (2012) · Cell Reports · doi:10.1016/j.celrep.2012.02.002 · Cited by 110
The fragile X mutation impairs homeostatic plasticity in human neurons by blocking synaptic retinoic acid signaling
Zhang, Z., Marro, S. G., Zhang, Y., Arendt, K. L., Patzke, C., Zhou, B., Fair, T., Yang, N., Südhof, T. C., Wernig, M., et al. (2018) · Science Translational Medicine · doi:10.1126/scitranslmed.aar4338 · Cited by 110
Fragile X syndrome due to a missense mutation
Myrick, L. K., Nakamoto-Kinoshita, M., Lindor, N. M., Kirmani, S., Cheng, X., & Warren, S. T. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.311 · Cited by 109
Conserved Hippocampal Cellular Pathophysiology but Distinct Behavioural Deficits in a New Rat Model of FXS
Till, S. M., Asiminas, A., Jackson, A. D., Katsanevaki, D., Barnes, S. A., Osterweil, E. K., Bear, M. F., Chattarji, S., Wood, E. R., Wyllie, D. J. A., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv299 · Cited by 109
Impaired inhibitory control of cortical synchronization in fragile X syndrome
Paluszkiewicz, S. M., Olmos-Serrano, J. L., Corbin, J. G., & Huntsman, M. M. (2011) · Journal of Neurophysiology · doi:10.1152/jn.00421.2011 · Cited by 107
Enhanced Endocannabinoid Signaling Elevates Neuronal Excitability in Fragile X Syndrome
Zhang, L., & Alger, B. E. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.0795-10.2010 · Cited by 104
Phosphorylation of AMPA receptors is required for sensory deprivation-induced homeostatic synaptic plasticity
Goel, A., Xu, L. W., Snyder, K. P., Song, L., Goenaga-Vazquez, Y., Megill, A., Takamiya, K., Huganir, R. L., & Lee, H.-K. (2011) · PLoS ONE · doi:10.1371/journal.pone.0018264 · Cited by 103
FMRP regulates the transition from radial glial cells to intermediate progenitor cells during neocortical development.
Saffary, R., & Xie, Z. (2011) · The Journal of Neuroscience · doi:10.1523/jneurosci.4854-10.2011 · Cited by 103 · cited 1×
“FMRP expression is also developmentally regulated in both humans (Abitbol et al., 1993) and mice (Saffary and Xie, 2011), with expression starting at early embryonic stages, peaking during early post-natal developmental critical periods, but remaining at sustained levels throughout adulthood (Till,…”
Background
PresynapticFmr1Genotype Influences the Degree of Synaptic Connectivity in a Mosaic Mouse Model of Fragile X Syndrome
Hanson, J. E., & Madison, D. V. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.4717-06.2007 · Cited by 103
Neural differentiation of fragile X human embryonic stem cells reveals abnormal patterns of development despite successful neurogenesis
Telias, M., Segal, M., & Ben‐Yosef, D. (2012) · Developmental Biology · doi:10.1016/j.ydbio.2012.11.031 · Cited by 103
All for One But Not One for All: Excitatory Synaptic Scaling and Intrinsic Excitability Are Coregulated by CaMKIV, Whereas Inhibitory Synaptic Scaling Is Under Independent Control
Joseph, A., & Turrigiano, G. G. (2017) · The Journal of Neuroscience · doi:10.1523/jneurosci.0618-17.2017 · Cited by 94
Interactions between synaptic homeostatic mechanisms: An attempt to reconcile BCM theory, synaptic scaling, and changing excitation/inhibition balance
Keck, T., Hübener, M., & Bonhoeffer, T. (2017) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2017.02.003 · Cited by 93
Expression of fragile X mental retardation protein in neurons and glia of the developing and adult mouse brain.
Gholizadeh, S., Halder, S. K., & Hampson, D. R. (2015) · Brain Research · doi:10.1016/j.brainres.2014.11.023 · Cited by 92
Auditory change detection in fragile X syndrome males: A brain potential study
van der Molen, M. J. W., van der Molen, M. W., Ridderinkhof, K. R., Hamel, B. C. J., Curfs, L., & Ramakers, G. J. A. (2011) · Clinical Neurophysiology · doi:10.1016/j.clinph.2011.11.039 · Cited by 90
Organization of excitatory and inhibitory local networks in the caudal nucleus of tractus solitarius of rats revealed in in vitro slice preparation
Kawai, Y., & Senba, E. (1996) · The Journal of Comparative Neurology · doi:10.1002/(sici)1096-9861(19960923)373:3 · Cited by 88
Neural circuit architecture defects in a Drosophila model of Fragile X syndrome are alleviated by minocycline treatment and genetic removal of matrix metalloproteinase
Siller, S. S., & Broadie, K. S. (2011) · Disease Models & Mechanisms · doi:10.1242/dmm.008045 · Cited by 88
GABA-B Agonist Baclofen Normalizes Auditory-Evoked Neural Oscillations and Behavioral Deficits in theFmr1Knockout Mouse Model of Fragile X Syndrome
Sinclair, D., Featherstone, R. E., Naschek, M. J., Nam, A. J., Du, A., Wright, S., Pance, K., Melnychenko, O., Weger, R., Akuzawa, S., et al. (2017) · eNeuro · doi:10.1523/eneuro.0380-16.2017 · Cited by 88
Multielectrode array analysis of EEG biomarkers in a mouse model of Fragile X Syndrome
Jonak, C. R., Lovelace, J. W., Ethell, I. M., Razak, K. A., & Binder, D. K. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104794 · Cited by 87
Light reintroduction after dark exposure reactivates plasticity in adults via perisynaptic activation of MMP-9
Murase, S., Lantz, C. L., & Quinlan, E. M. (2017) · eLife · doi:10.7554/elife.27345 · Cited by 87
Characterization of FMR1 proteins isolated from different tissues
Verhelj, C., de Graaff, E., Bakker, C. E., Willemsen, R., Willems, P. J., Meijer, N., GALJAARD, H., Reuser, A. J. J., Oostra, B. A., & Hoogeveen, A. T. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.5.895 · Cited by 85
A Target Cell-Specific Role for Presynaptic Fmr1 in Regulating Glutamate Release onto Neocortical Fast-Spiking Inhibitory Neurons
Patel, A. B., Hays, S. A., Bureau, I., Huber, K. M., & Gibson, J. R. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.2447-12.2013 · Cited by 82
Deletion of Fmr1 from Forebrain Excitatory Neurons Triggers Abnormal Cellular, EEG, and Behavioral Phenotypes in the Auditory Cortex of a Mouse Model of Fragile X Syndrome
Lovelace, J. W., Rais, M., Palacios, A. R., Shuai, X. S., Bishay, S., Popa, O., Pirbhoy, P. S., Binder, D. K., Nelson, D. L., Ethell, I. M., et al. (2019) · Cerebral Cortex · doi:10.1093/cercor/bhz141 · Cited by 82
Current Compensation in Neuronal Homeostasis
Marder, E., & Prinz, A. A. (2003) · Neuron · doi:10.1016/s0896-6273(02)01173-x · Cited by 80
Increased Persistent Sodium Current Causes Neuronal Hyperexcitability in the Entorhinal Cortex of Fmr1 Knockout Mice
Deng, P., & Klyachko, V. A. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.08.046 · Cited by 79
Prepulse inhibition in fragile X syndrome: Feasibility, reliability, and implications for treatment
Hessl, D. R., Berry‐Kravis, E., Cordeiro, L., Yuhas, J. M., Ornitz, E. M., Campbell, A., Chruscinski, E., Hervey, C. M., Long, J. M., & Hagerman, R. J. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30858 · Cited by 77
Loss of Functional A-Type Potassium Channels in the Dendrites of CA1 Pyramidal Neurons from a Mouse Model of Fragile X Syndrome
Routh, B. N., Johnston, D., & Brager, D. H. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.3256-13.2013 · Cited by 74
Impaired Critical Period Plasticity in Primary Auditory Cortex of Fragile X Model Mice
Kim, H., Gibboni, R., Kirkhart, C., & Bao, S. (2013) · The Journal of Neuroscience · doi:10.1523/jneurosci.3246-12.2013 · Cited by 74
Genetic upregulation of BK channel activity normalizes multiple synaptic and circuit defects in a mouse model of fragile X syndrome
Deng, P., & Klyachko, V. A. (2015) · The Journal of Physiology · doi:10.1113/jp271031 · Cited by 73

Research works printed but not linked: 1

Zhang, 2021, FMRP regulates experience-dependent maturation of callosal synaptic connections and bilateral cortical synchrony, BioRxiv, 10.1101/2021.06.25.449490 · DOI

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See all 53

Authors: Liu, X., Kumar, V., Tsai, N.-P., & Auerbach, B. D.
Affiliations: University of Illinois Urbana-Champaign (US)
Corresponding author: Auerbach, Benjamin D.
ORCID: Auerbach, Benjamin D.
Venue: Frontiers in Molecular Neuroscience
Publisher: Frontiers Media SA
Published: 2022-01-06
Volume: 14
Pages: 805929-805929
ISSN: 1662-5099 (ISSN-L)
DOI: 10.3389/fnmol.2021.805929
PMC: PMC8770333
OpenAlex: W4205495648
Cited by: 53
References: 291
Citations by year: 2026: 9 · 2025: 13 · 2024: 10 · 2023: 11 · 2022: 8
FWCI: 6.33
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
creativecommons.org/licenses/by/4.0/ (vor)
Locations: Frontiers in Molecular Neuroscience (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders: National Institute of Mental Health (R01MH124827)
National Institute on Deafness and Other Communication Disorders (K01DC018310)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords: fragile X syndrome, FMRP, neuronal hyperexcitability, neuronal homeostasis, homeostatic plasticity, inhibitory neurons, ion channels, activity-dependent plasticity, autism spectrum disorder, intellectual disability, epilepsy, sensory hypersensitivity, circuit dysfunction

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Hyperexcitability and homeostasis in fragile X Syndrome.

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