Decreased expression of the GABAA receptor in fragile X syndrome

D'Hulst, Charlotte; De Geest, Natalie; Reeve, Simon P.; Van Dam, Debby; De Deyn, Peter P.; Hassan, Bassem A.; Kooy, R. Frank

doi:10.1016/j.brainres.2006.08.115

Cited by 318Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology ResearchDown syndrome and intellectual disability research

Decreased expression of the GABAA receptor in fragile X syndrome

D'Hulst, Charlotte, De Geest, Natalie, Reeve, Simon P., Van Dam, Debby, De Deyn, Peter P., Hassan, Bassem A., Kooy, R. Frank·2006·Brain Research

DOI 10.1016/j.brainres.2006.08.115

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Abstract

After our initial discovery of under expression of the GABA(A) receptor delta subunit in a genome wide screening for differentially expressed mRNAs in brain of fragile X mice, a validated model for fragile X mental retardation syndrome, we analyzed expression of the 17 remaining subunits of the GABA(A) receptor using real-time PCR. We confirmed nearly 50% under expression of the delta subunit and found a significant 35%-50% reduction in expression of 7 additional subunit mRNAs, namely alpha(1), alpha(3), and alpha(4), beta(1) and beta(2) and gamma(1) and gamma(2), in fragile X mice compared to wild-type littermates. In concordance with previous results, under expression was found in cortex, but not in cerebellum. Moreover, decreased expression of specific GABA(A) receptor subunits in fragile X syndrome seems to be an evolutionary conserved hallmark since in the fragile X fly (Drosophila melanogaster) model we also found almost 50% under expression of all 3 subunits which make up the invertebrate GABA receptor, namely Grd, Rdl and Lcch3. In addition, we demonstrated a direct correlation between the amount of dFmrp and the expression of the GABA receptor subunits Rdl and Grd. Our results add evidence to previous observations of an altered GABAergic system in fragile X syndrome. Because GABA(A) receptors are the major inhibitory receptors in brain, involved in anxiety, depression, insomnia, learning and memory and epilepsy, processes also disturbed in fragile X patients, the well described GABA(A) receptor pharmacology might open new powerful opportunities for treatment of the behavioral and epileptic phenotype associated with fragile X syndrome.

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The GABA receptor system is downregulated in fragile X syndrome, partially due to destabilization of mRNAs encoding GABA receptor subunits.
“The GABA receptor system has also been reported as downregulated in FXS, partially due to destabilization of the mRNAs encoding the GABA receptor subunits (76,80,113).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [113]

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
Vandesompele, J., De Preter, K., Pattyn, F., Poppe, B., Van Roy, N., De Paepe, A., & Speleman, F. (2002) · Genome Biology · doi:10.1186/gb-2002-3-7-research0034 · Cited by 20,038 · see citing works
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481 · see citing works
Absence of expression of the FMR-1 gene in fragile X syndrome
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476 · see citing works
International Union of Pharmacology. XV. Subtypes of gamma-aminobutyric acidA receptors: classification on the basis of subunit structure and receptor function.
Barnard, E. A., Skolnick, P., Olsen, R. W., Möhler, H., Sieghart, W., Biggio, G., Bræstrup, C., Bateson, A. N., & Langer, S. Z. (1998) · PubMed · Cited by 1,204 · see citing works
Fmr1 knockout mice: A model to study fragile X mental retardation
THEDUTCHBELGIANFRAGILEXCONSOR (1994) · Cell · doi:10.1016/0092-8674(94)90569-x · Cited by 1,075 · see citing works
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 · see citing works
International Union of Pharmacology. XV. Subtypes of γ-Aminobutyric AcidA Receptors: Classification on the Basis of Subunit Structure and Receptor Function
Barnard, E. A., Skolnick, P., Olsen, R. W., Möhler, H., Sieghart, W., Biggio, G., Bræstrup, C., Bateson, A. N., & Langer, S. Z. (1998) · Pharmacological Reviews · doi:10.1016/s0031-6997(24)01363-2 · Cited by 711 · see citing works
The Fragile X Syndrome Protein FMRP Associates with BC1 RNA and Regulates the Translation of Specific mRNAs at Synapses
Zalfa, F., Giorgi, M., Primerano, B., Moro, A., Di Penta, A., Reis, S., Oostra, B., & Bagni, C. (2003) · Cell · doi:10.1016/s0092-8674(03)00079-5 · Cited by 676 · see citing works
Encyclopedia of molecular cell biology and molecular medicine
Meyers, R. A. (2004) · Cited by 616 · see citing works
Evidence that fragile X mental retardation protein is a negative regulator of translation
Laggerbauer, B. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.4.329 · Cited by 571 · see citing works
Abnormal Development of Dendritic Spines inFMR1Knock-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 · see citing works
Attenuated sensitivity to neuroactive steroids in γ-aminobutyrate type A receptor delta subunit knockout mice
Mihalek, R., Banerjee, P., Korpi, E. R., Quinlan, J. J., Firestone, L. L., Mi, Z.-P., Lagenaur, C. F., Tretter, V. E., Sieghart, W., Anagnostaras, S., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.22.12905 · Cited by 520 · see citing works
RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice
Miyashiro, K. Y., Beckel-Mitchener, A., Purk, T. P., Becker, K. G., Barret, T., Liu, L., Carbonetto, S., Weiler, I. J., Greenough, W. T., & Eberwine, J. (2003) · Neuron · doi:10.1016/s0896-6273(03)00034-5 · Cited by 495 · see citing works
Fragile X Syndrome: Diagnosis, Treatment, And Research
Silverman, & Cronister, A. (1991) · Johns Hopkins University Press eBooks · Cited by 481 · see citing works
A Decade of Molecular Studies of Fragile X Syndrome
O'Donnell, W. T., & Warren, S. T. (2002) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.25.112701.142909 · Cited by 481 · see citing works
Drug interactions at GABAA receptors
Korpi, E. R., Gründer, G., & Lüddens, H. (2002) · Progress in Neurobiology · doi:10.1016/s0301-0082(02)00013-8 · Cited by 474 · see citing works
The fragile X mental retardation protein inhibits translation via interacting with mRNA
Li, Z. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.11.2276 · Cited by 448 · see citing works
RNA and microRNAs in fragile X mental retardation
Jin, P., Alisch, R. S., & Warren, S. T. (2004) · Nature Cell Biology · doi:10.1038/ncb1104-1048 · Cited by 344 · see citing works
Molecular cloning and transformation of cyclodiene resistance in Drosophila: an invertebrate gamma-aminobutyric acid subtype A receptor locus.
ffrench‐Constant, R. H., Mortlock, D. P., Shaffer, C. D., MacIntyre, R., & Roush, R. T. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.16.7209 · Cited by 307 · see citing works
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 · see citing works
Drosophila Lacking dfmr1 Activity Show Defects in Circadian Output and Fail to Maintain Courtship Interest
Dockendorff, T. C., Su, H. S., McBride, S. M. J., Yang, Z., Choi, C. H., Siwicki, K. K., Sehgal, A., & Jongens, T. A. (2002) · Neuron · doi:10.1016/s0896-6273(02)00724-9 · Cited by 284 · see citing works
Characterization of dFMR1, a Drosophila melanogaster Homolog of the Fragile X Mental Retardation Protein
Wan, L., Dockendorff, T. C., Jongens, T. A., & Dreyfuss, G. (2000) · Molecular and Cellular Biology · doi:10.1128/mcb.20.22.8536-8547.2000 · Cited by 280 · see citing works
Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile‐X knockout mice
Irwin, S. A., Idupulapati, M., Gilbert, M. E., Harris, J. B., Chakravarti, A. B., Rogers, E. J., Crisostomo, R. A., Larsen, B. P., Mehta, A., Alcantara, C. J., et al. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10500 · Cited by 270 · see citing works
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 · see citing works
Drosophila Fragile X Protein, DFXR, Regulates Neuronal Morphology and Function in the Brain
Morales, J., Hiesinger, P. R., Schroeder, A. J., Kume, K., Verstreken, P., Jackson, F. R., Nelson, D. L., & Hassan, B. A. (2002) · Neuron · doi:10.1016/s0896-6273(02)00731-6 · Cited by 238 · see citing works
Self-citation
Molecular biology of insect neuronal GABA receptors
Hosie, A. M., Sattelle, D. B., Aronstein, K., & ffrench‐Constant, R. H. (1997) · Trends in Neurosciences · doi:10.1016/s0166-2236(97)01127-2 · Cited by 227 · see citing works
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 · see citing works
New insights into fragile X syndrome: from molecules to neurobehaviors
Jin, P., & Warren, S. T. (2003) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(03)00033-1 · Cited by 203 · see citing works
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 · see citing works
Self-citation
Fragile X syndrome: diagnosis, treatment and research
Vries, B. B. A. D. (2003) · Human Genetics · doi:10.1007/s00439-002-0888-y · Cited by 163 · see citing works
FMRP Involvement in Formation of Synapses among Cultured Hippocampal Neurons
Braun, K. A. (2000) · Cerebral Cortex · doi:10.1093/cercor/10.10.1045 · Cited by 149 · see citing works
Defective Neuronal Development in the Mushroom Bodies of Drosophila Fragile X Mental Retardation 1 Mutants
Michel, C. I., Kraft, R., & Restifo, L. L. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.1102-04.2004 · Cited by 145 · see citing works
Of mice and the fragile X syndrome
Kooy, R. F. (2003) · Trends in Genetics · doi:10.1016/s0168-9525(03)00017-9 · Cited by 134 · see citing works
Self-citation
GABA and behavior: The role of receptor subtypes
Paredes, R. G., & Ågmo, A. (1992) · Neuroscience & Biobehavioral Reviews · doi:10.1016/s0149-7634(05)80177-0 · Cited by 127 · see citing works
Drosophila melanogaster GRD and LCCH3 subunits form heteromultimeric GABA‐gated cation channels
Gisselmann, G., Plonka, J., Pusch, H., & Hatt, H. H. (2004) · British Journal of Pharmacology · doi:10.1038/sj.bjp.0705818 · Cited by 101 · see citing works
The fragile X syndrome: exploring its molecular basis and seeking a treatment
Bardoni, B., Davidovic, L., Bensaid, M., & Khandjian, É. W. (2006) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399406010751 · Cited by 100 · see citing works
Dynamic regulation of GABAA receptors at synaptic sites
Kneussel, M. (2002) · Brain Research Reviews · doi:10.1016/s0165-0173(02)00159-5 · Cited by 95 · see citing works
Understanding fragile X syndrome: insights from animal models
Bakker, C. E., & Oostra, B. A. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072845 · Cited by 87 · see citing works
Subunit composition determines picrotoxin and bicuculline sensitivity of Drosophila gamma-aminobutyric acid receptors.
Zhang, H. G., Lee, H. J., Rocheleau, T. A., ffrench‐Constant, R. H., & Jackson, M. B. (1995) · Molecular Pharmacology · doi:10.1016/s0026-895x(25)10540-3 · Cited by 86 · see citing works
Characterization of a Putative γ-Aminobutyric-Acid (GABA) Receptor β-Subunit Gene from Drosophila melanogaster
Henderson, J. E., Soderlund, D. M., & Knipple, D. C. (1993) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1993.1648 · Cited by 79 · see citing works
The fragile X mental retardation protein has nucleic acid chaperone properties
Gabus, C. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh535 · Cited by 74 · see citing works
Fathoming fragile X in fruit flies
Zhang, Y., & Broadie, K. S. (2004) · Trends in Genetics · doi:10.1016/j.tig.2004.11.003 · Cited by 66 · see citing works
Sequence of a Drosophila Ligand‐Gated Ion‐Channel Polypeptide with an Unusual Amino‐Terminal Extracellular Domain
Harvey, R. J., Schmitt, B., Hermans‐Borgmeyer, I., Gundelfinger, E. D., Betz, H., & Darlison, M. G. (1994) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.1994.62062480.x · Cited by 65 · see citing works
Involvement of cholinergic and gabaergic systems in the fragile X knockout mice
D’Antuono, M., Merlo, D., & Avoli, M. (2003) · Neuroscience · doi:10.1016/s0306-4522(03)00103-9 · Cited by 64 · see citing works
Family and molecular data for a fine analysis of age at onset in Huntington disease
Squitieri, F., Sabbadini, G., Mandich, P., Gellera, C., Maria, E. D., Bellone, E., Castellotti, B., Nargi, E., de Grazia, U., Frontali, M., et al. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20001211)95:4 · Cited by 48 · see citing works
Age- and region-specific imbalances of basal amino acids and monoamine metabolism in limbic regions of female Fmr1 knock-out mice
Gruss, M. (2004) · Neurochemistry International · doi:10.1016/j.neuint.2003.12.001 · Cited by 40 · see citing works
Expression profiling reveals involvement of the GABA(A) receptor subunit delta in the fragile X syndrome
Gantois, I., Vandesompele, J., Speleman, F., apos, D., hooge, R., Severijnen, L.-A. W. F. M., Willemsen, R., Tassone, F., & Kooy, R. F. (2003) · Ghent University Academic Bibliography (Ghent University) · Cited by 6 · see citing works
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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 · see citing works
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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 · see citing works
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Gao, R., & Penzes, P. (2015) · Current Molecular Medicine · doi:10.2174/1566524015666150303003028 · Cited by 516 · see citing works
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Dictenberg, J. B., Swanger, S. A., Antar, L. N., Singer, R. H., & Bassell, G. J. (2008) · Developmental Cell · doi:10.1016/j.devcel.2008.04.003 · Cited by 511 · see citing works
The translation of translational control by FMRP: therapeutic targets for FXS
Darnell, J. C., & Klann, E. (2013) · Nature Neuroscience · doi:10.1038/nn.3379 · Cited by 491 · see citing works
GABA system dysfunction in autism and related disorders: From synapse to symptoms
Coghlan, S., Horder, J., Inkster, B., Méndez, M. A., Murphy, D., & Nutt, D. (2012) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2012.07.005 · Cited by 437 · see citing works
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Contractor, A., Klyachko, V. A., & Portera‐Cailliau, C. (2015) · Neuron · doi:10.1016/j.neuron.2015.06.017 · Cited by 425 · see citing works
The attentive brain: insights from developmental cognitive neuroscience
Amso, D., & Scerif, G. (2015) · Nature reviews. Neuroscience · doi:10.1038/nrn4025 · Cited by 333 · see citing works
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63141 · Cited by 321 · see citing works
Alterations of GABAergic Signaling in Autism Spectrum Disorders
Pizzarelli, R., & Cherubini, E. (2011) · Neural Plasticity · doi:10.1155/2011/297153 · Cited by 323 · see citing works
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 · see citing works
Lessons learned from studying syndromic autism spectrum disorders
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The Emerging Picture of Autism Spectrum Disorder: Genetics and Pathology
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Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABA B Receptors with Arbaclofen
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He, Q., Nomura, T., Xu, J., & Contractor, A. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.4447-13.2014 · Cited by 230 · see citing works
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Curia, G., Papouin, T., Séguéla, P., & Avoli, M. (2009) · Cerebral Cortex · doi:10.1093/cercor/bhn159 · Cited by 218 · see citing works
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Selten, M. M., van Bokhoven, H., & Kasri, N. N. (2018) · F1000Research · doi:10.12688/f1000research.12155.1 · Cited by 208 · see citing works
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Modulation of GABAergic transmission in development and neurodevelopmental disorders: investigating physiology and pathology to gain therapeutic perspectives
Deidda, G., Bozarth, I. F., & Cancedda, L. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00119 · Cited by 192 · see citing works
The Unstable Repeats—Three Evolving Faces of Neurological Disease
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Advances in behavioral genetics: mouse models of autism
Moy, S. S., & Nadler, J. J. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4002082 · Cited by 197 · see citing works
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Epilepsy and autism spectrum disorders: are there common developmental mechanisms?
Brooks-Kayal, A. (2010) · Brain and Development · doi:10.1016/j.braindev.2010.04.010 · Cited by 162 · see citing works
Fragile X targeted pharmacotherapy: lessons learned and future directions
Erickson, C. A., Davenport, M. H., Schaefer, T. L., Wink, L. K., Pedapati, E. V., Sweeney, J. A., Fitzpatrick, S. E., Brown, W. T., Budimirovic, D. B., Hagerman, R. J., et al. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-017-9186-9 · Cited by 153 · see citing works
Early developmental alterations in GABAergic protein expression in fragile X knockout mice
Adusei, D. C., Pacey, L. K. K., Chen, D., & Hampson, D. R. (2010) · Neuropharmacology · doi:10.1016/j.neuropharm.2010.05.002 · Cited by 139 · see citing works
FMRP regulates multipolar to bipolar transition affecting neuronal migration and cortical circuitry
Fata, G. L., Gärtner, A., Domıńguez-Iturza, N., Dresselaers, T., Dawitz, J., Poorthuis, R. B., Averna, M., Himmelreich, U., Meredith, R. M., Achsel, T., et al. (2014) · Nature Neuroscience · doi:10.1038/nn.3870 · Cited by 142 · see citing works
Fragile X syndrome and associated disorders: Clinical aspects and pathology
Salcedo‐Arellano, M. J., Dufour, B. D., McLennan, Y. A., Martínez‐Cerdeño, V., & Hagerman, R. J. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104740 · Cited by 141 · see citing works
Metabotropic Glutamate Receptor 5 Upregulation in Children with Autism is Associated with Underexpression of Both Fragile X Mental Retardation Protein and GABAA Receptor Beta 3 in Adults with Autism
Fatemi, S. H., Folsom, T. D., Kneeland, R. E., & Liesch, S. B. (2011) · The Anatomical Record · doi:10.1002/ar.21299 · Cited by 137 · see citing works
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 · see citing works
Fragile X mental retardation protein control of neuronal mRNA metabolism: Insights into mRNA stability
De Rubeis, S., & Bagni, C. (2010) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2009.09.013 · Cited by 126 · see citing works
The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation
Lucà, R., Averna, M., Zalfa, F., Vecchi, M., Bianchi, F., Fata, G. L., Nonno, F. D., Nardacci, R., Bianchi, M., Nuciforo, P. G., et al. (2013) · EMBO Molecular Medicine · doi:10.1002/emmm.201302847 · Cited by 131 · see citing works
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 128 · see citing works
Fragile X-related proteins regulate mammalian circadian behavioral rhythms
Zhang, J., Fang, Z., Jud, C., Vansteensel, M. J., Kaasik, K., Lee, C. C., Albrecht, U., Tamanini, F., Meijer, J. H., Oostra, B. A., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.06.003 · Cited by 131 · see citing works
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 128 · see citing works
Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model
Heulens, I., D’Hulst, C., Dam, D. V., Deyn, P. P. D., & Kooy, R. F. (2012) · Behavioural Brain Research · doi:10.1016/j.bbr.2012.01.031 · Cited by 125 · see citing works
Self-citation
Functional regulation of GABAA receptors in nervous system pathologies
Hines, R. M., Davies, P. A., Moss, S. J., & Maguire, J. L. (2011) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2011.10.007 · Cited by 125 · see citing works
Mechanism-based approaches to treating fragile X
Dölen, G., Carpenter, R. L., Ocain, T. D., & Bear, M. F. (2010) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2010.02.008 · Cited by 124 · see citing works
Of Men and Mice: Modeling the Fragile X Syndrome
Dahlhaus, R. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00041 · Cited by 118 · see citing works
Fragile X-associated disorders: a clinical overview
Gallagher, A. T., & Hallahan, B. P. (2011) · Journal of Neurology · doi:10.1007/s00415-011-6161-3 · Cited by 108 · see citing works
Sensitive time-windows for susceptibility in neurodevelopmental disorders
Meredith, R. M., Dawitz, J., & Kramvis, I. (2012) · Trends in Neurosciences · doi:10.1016/j.tins.2012.03.005 · Cited by 104 · see citing works
Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond
Groß, C., Berry‐Kravis, E., & Bassell, G. J. (2011) · Neuropsychopharmacology · doi:10.1038/npp.2011.137 · Cited by 103 · see citing works
Fragile X Syndrome and Targeted Treatment Trials
Hagerman, R. J., Lauterborn, J. C., Au, J., & Berry‐Kravis, E. (2011) · Results and problems in cell differentiation · doi:10.1007/978-3-642-21649-7_17 · Cited by 104 · see citing works
Channelopathies in fragile X syndrome
Deng, P., & Klyachko, V. A. (2021) · Nature reviews. Neuroscience · doi:10.1038/s41583-021-00445-9 · Cited by 105 · see citing works
Targeted treatments for fragile X syndrome
Berry‐Kravis, E., Knox, A. T., & Hervey, C. M. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9074-7 · Cited by 103 · see citing works
Fragile X syndrome: From protein function to therapy
Bagni, C., & Oostra, B. A. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36241 · Cited by 104 · see citing works
Auditory Processing in Fragile X Syndrome
Rotschafer, S. E., & Razak, K. A. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00019 · Cited by 103 · see citing works
Impact of acamprosate on behavior and brain-derived neurotrophic factor: an open-label study in youth with fragile X syndrome
Erickson, C. A., Wink, L. K., Ray, B., Early, M. C., Stiegelmeyer, E., Mathieu-Frasier, L., Patrick, V. B., Lahiri, D. K., & McDougle, C. J. (2013) · Psychopharmacology · doi:10.1007/s00213-013-3022-z · Cited by 101 · see citing works
The Fragile X Family of Disorders: A Model for Autism and Targeted Treatments
Hagerman, R. J., Rivera, S. M., & Hagerman, P. J. (2008) · Current Pediatric Reviews · doi:10.2174/157339608783565770 · Cited by 101 · see citing works
Protein Kinase C Phosphorylation Regulates Membrane Insertion of GABAA Receptor Subtypes That Mediate Tonic Inhibition
Abramian, A. M., Comenencia-Ortiz, E., Vithlani, M., Tretter, V. E., Sieghart, W., Davies, P. A., & Moss, S. J. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.149229 · Cited by 97 · see citing works
Prenatal stress and inhibitory neuron systems: implications for neuropsychiatric disorders
Fine, R., Zhang, J., & Stevens, H. E. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.35 · Cited by 96 · see citing works
Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development
Pop, A. S., Gomez‐Mancilla, B., Neri, G., Willemsen, R., & Gasparini, F. (2013) · Psychopharmacology · doi:10.1007/s00213-013-3330-3 · Cited by 94 · see citing works
Downregulation of GABAA Receptor Protein Subunits α6, β2, δ, ε, γ2, θ, and ρ2 in Superior Frontal Cortex of Subjects with Autism
Fatemi, S. H., Reutiman, T. J., Folsom, T. D., Rustan, Ø. G., Rooney, R. J., & THURAS, P. D. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2078-x · Cited by 94 · see citing works
Origins of Epilepsy in Fragile X Syndrome
Hagerman, P. J., & Stafstrom, C. E. (2009) · Epiliepsy currents/Epilepsy currents · doi:10.1111/j.1535-7511.2009.01309.x · Cited by 94 · see citing works
mRNA and protein expression for novel GABAA receptors θ and ρ2 are altered in schizophrenia and mood disorders; relevance to FMRP-mGluR5 signaling pathway
Fatemi, S. H., Folsom, T. D., Rooney, R. J., & THURAS, P. D. (2013) · Translational Psychiatry · doi:10.1038/tp.2013.46 · Cited by 93 · see citing works
The GABAAreceptor is an FMRP target with therapeutic potential in fragile X syndrome
Braat, S., D’Hulst, C., Heulens, I., Rubeis, S. D., Mientjes, E., Nelson, D. L., Willemsen, R., Bagni, C., Dam, D. V., Deyn, P. P. D., et al. (2015) · Cell Cycle · doi:10.4161/15384101.2014.989114 · Cited by 92 · see citing works
Self-citation
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 · see citing works
The Psychiatric Presentation of Fragile X: Evolution of the Diagnosis and Treatment of the Psychiatric Comorbidities of Fragile X Syndrome
Tranfaglia, M. R. (2011) · Developmental Neuroscience · doi:10.1159/000329421 · Cited by 89 · see citing works
Auditory and visual cortical activity during selective attention in fragile X syndrome: a cascade of processing deficiencies.
Van der Molen, M. J. W., Van der Molen, M. W., Ridderinkhof, K. R., Hamel, B. C. J., Curfs, L. M. G., & Ramakers, G. J. A. (2012) · Clinical Neurophysiology · doi:10.1016/j.clinph.2011.08.023 · Cited by 88 · see citing works
Impaired activity-dependent neural circuit assembly and refinement in autism spectrum disorder genetic models
Doll, C. A., & Broadie, K. S. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00030 · Cited by 81 · see citing works
Potential therapeutic interventions for fragile X syndrome
Levenga, J., de Vrij, F. M. S., Oostra, B. A., & Willemsen, R. (2010) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2010.08.005 · Cited by 87 · see citing works
Defining genetically meaningful language and personality traits in relatives of individuals with fragile X syndrome and relatives of individuals with autism
Losh, M. C., Klusek, J., Martin, G. E., Sideris, J. H., Parlier, M., & Piven, J. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32070 · Cited by 87 · see citing works
GABA receptor subunit distribution and FMRP–mGluR5 signaling abnormalities in the cerebellum of subjects with schizophrenia, mood disorders, and autism
Fatemi, S. H., & Folsom, T. D. (2014) · Schizophrenia Research · doi:10.1016/j.schres.2014.10.010 · Cited by 85 · see citing works
Dysregulation of fragile × mental retardation protein and metabotropic glutamate receptor 5 in superior frontal cortex of individuals with autism: a postmortem brain study
Fatemi, S. H., & Folsom, T. D. (2011) · Molecular Autism · doi:10.1186/2040-2392-2-6 · Cited by 84 · see citing works
Increased cortical reactivity to repeated tones at 8 months in infants with later ASD
Kolesnik, A., Begum Ali, J., Gliga, T., Guiraud, J., Charman, T., Johnson, M. H., Jones, E. J. H., & The BASIS Team (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0393-x · Cited by 75 · see citing works
Altered expression of δGABAA receptors in health and disease
Whissell, P. D., Lecker, I., Wang, D.-S., Yu, J., & Orser, B. A. (2014) · Neuropharmacology · doi:10.1016/j.neuropharm.2014.08.003 · Cited by 81 · see citing works
A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome
Ligsay, A., Dijck, A. V., Nguyen, D. V., Lozano, R., Chen, Y., Bickel, E., Hessl, D. R., Schneider, A., Angkustsiri, K., Tassone, F., et al. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-017-9207-8 · Cited by 80 · see citing works
Self-citation
The role of fragile X mental retardation protein in major mental disorders
Fatemi, S. H., & Folsom, T. D. (2011) · Neuropharmacology · doi:10.1016/j.neuropharm.2010.11.011 · Cited by 80 · see citing works
Molecular Mechanisms of Synaptic Dysregulation in Fragile X Syndrome and Autism Spectrum Disorders
Telias, M. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00051 · Cited by 79 · see citing works
Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children
Brooks‐Kayal, A. R. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2010.02906.x · Cited by 79 · see citing works
Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials
Braat, S., & Kooy, R. F. (2014) · Neuropharmacology · doi:10.1016/j.neuropharm.2014.06.028 · Cited by 77 · see citing works
Self-citation
Widespread Alterations in Translation Elongation in the Brain of Juvenile Fmr1 Knockout Mice
Sharma, S. D., Metz, J. B., Li, H., Hobson, B. D., Hornstein, N. J., Sulzer, D., Tang, G., & Sims, P. A. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.02.086 · Cited by 71 · see citing works
Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice
Sabanov, V., Braat, S., D’Andrea, L., Willemsen, R., Zeidler, S., Rooms, L., Bagni, C., Kooy, R. F., & Balschun, D. (2016) · Neuropharmacology · doi:10.1016/j.neuropharm.2016.12.010 · Cited by 75 · see citing works
Self-citation
Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders
De Rubeis, S., & Bagni, C. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9087-2 · Cited by 73 · see citing works
Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum toxin substrate 1, amyloid beta A4 precursor protein, striatal-enriched protein tyrosine phosphatase, and homer 1, in autism: a postmortem study in cerebellar vermis and superior frontal cortex
Fatemi, S. H., Folsom, T. D., Kneeland, R. E., Yousefi, M. K., Liesch, S. B., & THURAS, P. D. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-21 · Cited by 69 · see citing works
A Common Susceptibility Factor of Both Autism and Epilepsy: Functional Deficiency of GABAA Receptors
Kang, J., & Barnes, G. N. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1543-7 · Cited by 70 · see citing works
Signals, synapses, and synthesis: how new proteins control plasticity
Zukin, R. S. (2009) · Frontiers in Neural Circuits · doi:10.3389/neuro.04.014.2009 · Cited by 70 · see citing works
Reduced alpha and exaggerated theta power during the resting-state EEG in fragile X syndrome
van der Molen, M. J. W., & van der Molen, M. W. (2012) · Biological Psychology · doi:10.1016/j.biopsycho.2012.11.013 · Cited by 69 · see citing works
The contribution of inhibitory interneurons to circuit dysfunction in Fragile X Syndrome
Rio, C. A. C.-D., & Huntsman, M. M. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00245 · Cited by 67 · see citing works
Deficient tonic GABAergic conductance and synaptic balance in the fragile X syndrome amygdala
Martin, B. S., Corbin, J. G., & Huntsman, M. M. (2014) · Journal of Neurophysiology · doi:10.1152/jn.00597.2013 · Cited by 69 · see citing works
Which Comes First in Fragile X Syndrome, Dendritic Spine Dysgenesis or Defects in Circuit Plasticity?
Portera‐Cailliau, C. (2011) · The Neuroscientist · doi:10.1177/1073858410395322 · Cited by 68 · see citing works
Modeling Fragile X Syndrome in Drosophila
Drozd, M. M., Bardoni, B., & Capovilla, M. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00124 · Cited by 67 · see citing works
Modulation of the GABAergic pathway for the treatment of fragile X syndrome
Hagerman, R. J., Lozano, R., & Hare, E. B. (2014) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s42919 · Cited by 66 · see citing works
Open-label riluzole in fragile X syndrome
Erickson, C. A., Weng, N., Weiler, I. J., Greenough, W. T., Stigler, K. A., Wink, L. K., & McDougle, C. J. (2010) · Brain Research · doi:10.1016/j.brainres.2010.10.108 · Cited by 64 · see citing works
Drosophila models of early onset cognitive disorders and their clinical applications
van der Voet, M., Nijhof, B., Oortveld, M. A. W., & Schenck, A. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.01.013 · Cited by 62 · see citing works
Somatosensory map expansion and altered processing of tactile inputs in a mouse model of fragile X syndrome
Juczewski, K., von Richthofen, H. J., Bagni, C., Celikel, T., Fisone, G., & Krieger, P. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.09.007 · Cited by 59 · see citing works

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 · see citing works
Self-citation
Early developmental alterations in GABAergic protein expression in fragile X knockout mice
Adusei, D. C., Pacey, L. K. K., Chen, D., & Hampson, D. R. (2010) · Neuropharmacology · doi:10.1016/j.neuropharm.2010.05.002 · Cited by 139 · see citing works
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 · see citing works
GABAergic abnormalities in the fragile X syndrome.
Van der Aa, N., & Kooy, R. F. (2020) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2019.12.022 · Cited by 26 · see citing works
Self-citation
Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model
GANTOIS, I., Vandesompele, J., Speleman, F., REYNIERS, E., D'HOOGE, R., Severijnen, L., WILLEMSEN, R., TASSONE, F., & Kooy, R. F. (2006) · Ghent University Academic Bibliography (Ghent University) · Cited by 6 · see citing works
Self-citation

Authors: D'Hulst, C., De Geest, N., Reeve, S. P., Van Dam, D., De Deyn, P. P., Hassan, B. A., & Kooy, R. F.
Affiliations: KU Leuven (BE)
University of Antwerp (BE)
Corresponding author: Kooy, R. Frank
ORCID: Hassan, Bassem A.
Kooy, R. Frank
Venue: Brain Research
Publisher: Elsevier BV
Published: 2006-11
Volume: 1121
Issue: 1
Pages: 238-245
ISSN: 0006-8993 (ISSN-L)
DOI: 10.1016/j.brainres.2006.08.115
OpenAlex: W1972740284
Cited by: 318
References: 47
Citations by year: 2026: 5 · 2025: 9 · 2024: 5 · 2023: 14 · 2022: 20 · 2021: 10 · 2020: 18 · 2019: 15 · 2018: 10 · 2017: 18 · 2016: 16 · 2015: 28 · 2014: 26 · 2013: 22 · 2012: 24
FWCI: 4.35
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Brain Research (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords: fragile X syndrome, GABAA receptor, GABA receptor subunits, Drosophila, FMRP, GABAergic system, gene expression, cortex, cerebellum, epilepsy, anxiety, learning and memory
MeSH terms: Animals, Crosses, Genetic, Disease Models, Animal, Fragile X Syndrome, Gene Expression Regulation, Humans, Male, Mice, Inbred C57BL, Mice, Mutant Strains, Mutation, Receptors, GABA-A, RNA, Messenger, Down-Regulation, Mice, Fragile X Messenger Ribonucleoprotein 1

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Decreased expression of the GABAA receptor in fragile X syndrome

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