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The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome

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Pages 2985-2995 | Received 22 Sep 2015, Accepted 11 Apr 2015, Published online: 22 Sep 2015

References

  • Santoro MR, Bray SM, Warren ST. Molecular mechanisms of fragile X syndrome: a twenty-year perspective. Annu Rev Pathol 2012; 7:219–45; PMID:22017584; http://dx.doi.org/10.1146/annurev-pathol-011811-132457
  • Maurin T, Zongaro S, Bardoni B. Fragile X Syndrome: From molecular pathology to therapy. Neurosci Biobehav Rev 2014; 46 Pt 2:242–55; PMID:24462888; http://dx.doi.org/10.1016/j.neubiorev.2014.01.006
  • Bassell GJ, Warren ST. Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron 2008; 60:201–14; PMID:18957214; http://dx.doi.org/10.1016/j.neuron.2008.10.004
  • Bagni C, Tassone F, Neri G, Hagerman R. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest 2012; 122:4314–22; PMID:23202739; http://dx.doi.org/10.1172/JCI63141
  • Zalfa F, Eleuteri B, Dickson KS, Mercaldo V, De Rubeis S, di Penta A, Tabolacci E, Chiurazzi P, Neri G, Grant SGN, et al. A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability. Nat Neurosci 2007; 10:578–87; PMID:17417632; http://dx.doi.org/10.1038/nn1893
  • Miyashiro KY, Beckel-Mitchener A, Purk TP, Becker KG, Barret T, Liu L, Carbonetto S, Weiler IJ, Greenough WT, Eberwine J. RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice. Neuron 2003; 37:417–31; PMID:12575950; http://dx.doi.org/10.1016/S0896-6273(03)00034-5
  • Fernandez E, Rajan N, Bagni C. The FMRP regulon: from targets to disease convergence. Front Neurosci 2013; 7:191; PMID:24167470; http://dx.doi.org/10.3389/fnins.2013.00191
  • Darnell JC, Fraser CE, Mostovetsky O, Stefani G, Jones TA, Eddy SR, Darnell RB. Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes. Gen Dev 2005; 19:903–18; PMID:15805463; http://dx.doi.org/10.1101/gad.1276805
  • Ascano M, Jr., Mukherjee N, Bandaru P, Miller JB, Nusbaum JD, Corcoran DL, Langlois C, Munschauer M, Dewell S, Hafner M, et al. FMRP targets distinct mRNA sequence elements to regulate protein expression. Nature 2012; 492:382–6; PMID:23235829; http://dx.doi.org/10.1038/nature11737
  • Darnell J, Jensen K, Jin P, Brown V, Warren ST, Darnell RB. Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function. Cell 2001; 107:489–99; PMID:11719189; http://dx.doi.org/10.1016/S0092-8674(01)00566-9
  • Schaeffer C, Bardoni B, Mandel J-L, Ehresmann B, Ehresmann C, Moine H. The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif. EMBO J 2001; 20:4803–13; PMID:11532944; http://dx.doi.org/10.1093/emboj/20.17.4803
  • Bechara EG, Didiot MC, Melko M, Davidovic L, Bensaid M, Martin P, Castets M, Pognonec P, Khandjian EW, Moine H, et al. A novel function for fragile X mental retardation protein in translational activation. PLoS Biol 2009; 7:e16; PMID:19166269; http://dx.doi.org/10.1371/journal.pbio.1000016
  • Chen L, Yun SW, Seto J, Liu W, Toth M. The fragile X mental retardation protein binds and regulates a novel class of mRNAs containing U rich target sequences. Neuroscience 2003; 120:1005–17; PMID:12927206; http://dx.doi.org/10.1016/S0306-4522(03)00406-8
  • Darnell JC, Van Driesche SJ, Zhang C, Hung KY, Mele A, Fraser CE, Stone EF, Chen C, Fak JJ, Chi SW, et al. FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism. Cell 2011; 146:247–61; PMID:21784246; http://dx.doi.org/10.1016/j.cell.2011.06.013
  • Braat S, Kooy RF. Fragile X syndrome neurobiology translates into rational therapy. Drug Discov Today 2014; 19(4):510–9
  • D'Hulst C, Kooy RF. The GABA(A) receptor: a novel target for treatment of fragile X? Trends Neurosci 2007; 30:425–31; PMID:17590448; http://dx.doi.org/10.1016/j.tins.2007.06.003
  • Paluszkiewicz SM, Martin BS, Huntsman MM. Fragile X syndrome: the GABAergic system and circuit dysfunction. Dev Neurosci 2011; 33(5):349–64; PMID:21934270; http://dx.doi.org/10.1159/000329420
  • Braat S, Kooy RF. Insights into GABAergic system deficits in fragile X syndrome lead to clinical trials. Neuropharmacology 2015; 88:48-54; PMID:25016041; http://dx.doi.org/10.1016/j.neuropharm.2014.06.028
  • D'Hulst C, De Geest N, Reeve SP, Van Dam D, De Deyn PP, Hassan BA, Kooy RF. Decreased expression of the GABAA receptor in fragile X syndrome. Brain Res 2006; 1121:238–45; PMID:17046729; http://dx.doi.org/10.1016/j.brainres.2006.08.115
  • D'Hulst C, Heulens I, Brouwer JR, Willemsen R, De Geest N, Reeve SP, De Deyn PP, Hassan BA, Kooy RF. Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS). Brain Res 2009; 1253:176–83; PMID:19070606; http://dx.doi.org/10.1016/j.brainres.2008.11.075
  • Gantois I, Vandesompele J, Speleman F, Reyniers E, D'Hooge R, Severijnen L-A, Willemsen R, Tassone F, Kooy RF. Expression profiling reveals involvement of the GABAA receptor subunit  in the fragile X syndrome. Neurobiol Dis 2006; 21:346–57; PMID:16199166; http://dx.doi.org/10.1016/j.nbd.2005.07.017
  • El Idrissi A, Ding X-H, Scalia J, Trenkner E, Brown WT, Dobkin C. Decreased GABAA receptor expression in the seizure-prone fragile X mouse. Neurosci Lett 2005; 377:141–6; PMID:15755515; http://dx.doi.org/10.1016/j.neulet.2004.11.087
  • Curia G, Papouin T, Seguela P, Avoli M. Downregulation of Tonic GABAergic Inhibition in a Mouse Model of Fragile X Syndrome. Cereb cortex 2009; 19:1515–20; PMID:18787232; http://dx.doi.org/10.1093/cercor/bhn159
  • Adusei DC, Pacey LK, Chen D, Hampson DR. Early Developmental Alterations in GABAergic Protein Expression in Fragile X Knockout Mice. Neuropharmacology 2010; 59(3):167–71; PMID:20470805; http://dx.doi.org/10.1016/j.neuropharm.2010.05.002
  • Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, De Paepe A, Speleman F. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Gen Biol 2002; 3:34.1-.11; http://dx.doi.org/10.1186/gb-2002-3-7-research0034
  • Mientjes EJ, Nieuwenhuizen I, Kirkpatrick L, Zu T, Hoogeveen-Westerveld M, Severijnen L, Rifé M, Willemsen R, Nelson DL, Oostra BA. The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Neurobiol Dis 2006; 21:549–55; PMID:16257225; http://dx.doi.org/10.1016/j.nbd.2005.08.019
  • Peier AM, McIlwain KL, Kenneson A, Warren ST, Paylor R, Nelson DL. (Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features. Hum Mol Genet 2000; 9:1145–59; PMID:10767339; http://dx.doi.org/10.1093/hmg/9.8.1145
  • McKernan RM, Whiting PJ. Which GABAA-receptor subtypes really occur in the brain? Trends Neurosci 1996; 19:139–43; PMID:8658597; http://dx.doi.org/10.1016/S0166-2236(96)80023-3
  • Nohria V, Giller E. Ganaxolone. Neurotherapeutics 2007; 4:102–5; PMID:17199022; http://dx.doi.org/10.1016/j.nurt.2006.11.003
  • Carter RB, Wood PL, Wieland S, Hawkinson JE, Belelli D, Lambert JJ, White HS, Wolf HH, Mirsadeghi S, Tahir SH, et al. Characterization of the anticonvulsant properties of ganaxolone (CCD 1042; 3alpha-hydroxy-3beta-methyl-5alpha-pregnan-20-one), a selective, high-affinity, steroid modulator of the gamma-aminobutyric acid(A) receptor. J Pharmacol Exp Ther 1997; 280:1284–95; PMID:9067315
  • Thomas A, Burant A, Bui N, Graham D, Yuva-Paylor LA, Paylor R. Marble burying reflects a repetitive and perseverative behavior more than novelty-induced anxiety. Psychopharmacology 2009; 204:361–73; PMID:19189082; http://dx.doi.org/10.1007/s00213-009-1466-y
  • Spencer CM, Alekseyenko O, Hamilton SM, Thomas AM, Serysheva E, Yuva-Paylor LA, Paylor R. Modifying behavioral phenotypes in Fmr1KO mice: genetic background differences reveal autistic-like responses. Autism Res 2011; 4:40–56; PMID:21268289; http://dx.doi.org/10.1002/aur.168
  • Frankland PW, Wang Y, Rosner B, Shimizu T, Balleine BW, Dykens EM, Ornitz EM, Silva AJ. Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice. Mol Psychiatry 2004; 9:417–25; PMID:14981523; http://dx.doi.org/10.1038/sj.mp.4001432
  • Suhl JA, Chopra P, Anderson BR, Bassell GJ, Warren ST. Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences. Hum Mol Genet 2014; 23(20):5479–91; PMID:24876161; http://dx.doi.org/10.1093/hmg/ddu272
  • Davidovic L, Navratil V, Bonaccorso CM, Catania MV, Bardoni B, Dumas ME. A metabolomic and systems biology perspective on the brain of the Fragile X syndrome mouse model. Gen Res 2011; PMID:21900387
  • Reddy DS, Rogawski MA. Neurosteroids - Endogenous Regulators of Seizure Susceptibility and Role in the Treatment of Epilepsy. In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds. Jasper's Basic Mechanisms of the Epilepsies. Bethesda (MD), 2012.
  • Veeraragavan S, Graham D, Bui N, Yuva-Paylor LA, Wess J, Paylor R. Genetic reduction of muscarinic M4 receptor modulates analgesic response and acoustic startle response in a mouse model of fragile X syndrome (FXS). Behav Brain Res 2012; 228:1–8; PMID:22123412; http://dx.doi.org/10.1016/j.bbr.2011.11.018
  • Chen L, Toth M. Fragile X mice develop sensory hyperreactivity to auditory stimuli. Neuroscience 2001; 103:1043–50; PMID:11301211; http://dx.doi.org/10.1016/S0306-4522(01)00036-7
  • Nielsen DM, Derber WJ, McClellan DA, Crnic LS. Alterations in the auditory startle response in Fmr1 targeted mutant mouse models of fragile X syndrome. Brain Res 2002; 927:8–17; PMID:11814427; http://dx.doi.org/10.1016/S0006-8993(01)03309-1
  • Errijgers V, Fransen E, D'Hooge R, De Deyn PP, Kooy RF. Effect of genetic background on acoustic startle response in fragile X knockout mice. Genet Res 2008; 90:341–5; http://dx.doi.org/10.1017/S0016672308009415
  • Heulens I, D'Hulst C, Van Dam D, De Deyn PP, Kooy RF. Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model. Behav Brain Res 2012; 229:244–9; PMID:22285772; http://dx.doi.org/10.1016/j.bbr.2012.01.031
  • Bakker CE, Verheij C, Willemsen R, van der Helm R, Oerlemans F, Vermey M, Bygrave A, Hoogeveen AT, Oostra BA, Reyniers E, et al. Fmr1 knockout mice: a model to study fragile X mental retardation. Cell 1994; 78:23–33; PMID:8033209
  • Paylor R, Yuva-Paylor LA, Nelson DL, Spencer CM. Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human Fmr1 transgene. Behav Neurosci 2008; 122:1371–7; PMID:19045956; http://dx.doi.org/10.1037/a0013047
  • Halder K, Hartig JS. RNA quadruplexes. Met Ions life Sci 2011; 9:125–39; PMID:22010270; http://dx.doi.org/10.1039/9781849732512-00125
  • Adinolfi S, Bagni C, Musco G, Gibson T, Mazzarella L, Pastore A. Dissecting FMR1, the protein responsible for fragile X syndrome, in its structural and functional domains. Rna 1999; 5:1248–58; PMID:10496225; http://dx.doi.org/10.1017/S1355838299990647
  • Zalfa F, Giorgi M, Primerano B, Moro A, Di Penta A, Reis S, Oostra B, Bagni C. The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses. Cell 2003; 112:317–27; PMID:12581522; http://dx.doi.org/10.1016/S0092-8674(03)00079-5

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