메뉴 건너뛰기




Volumn 10, Issue 7, 2015, Pages

Positron Emission Tomography (PET) quantification of GABAA receptors in the brain of fragile X patients

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; FLUMAZENIL;

EID: 84942036668     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0131486     Document Type: Article
Times cited : (44)

References (36)
  • 1
    • 69849090240 scopus 로고    scopus 로고
    • Fragile x syndrome: From molecular genetics to therapy
    • PMID: 19724010
    • D'Hulst C, Kooy RF. Fragile X syndrome: from molecular genetics to therapy. J Med Genet. 2009; 46 (9):577-84. doi:10.1136/jmg.2008.064667 PMID: 19724010.
    • (2009) J Med Genet , vol.46 , Issue.9 , pp. 577-584
    • D'Hulst, C.1    Kooy, R.F.2
  • 2
    • 0001966753 scopus 로고    scopus 로고
    • Physical and behavioral phenotype
    • Hagerman RJ, Hagerman PJ, editors. 3nd ed. Baltimore, MA: Johns Hopkins University Press
    • Hagerman RJ. Physical and behavioral phenotype. In: Hagerman RJ, Hagerman PJ, editors. Fragile X syndrome: diagnosis, treatment and research. 3nd ed. Baltimore, MA: Johns Hopkins University Press; 2002. p. 3-109.
    • (2002) Fragile X Syndrome: Diagnosis, Treatment and Research , pp. 3-109
    • Hagerman, R.J.1
  • 3
    • 0032773639 scopus 로고    scopus 로고
    • Epilepsy and EEG findings in males with fragile x syndrome
    • PMID: 10448821
    • Musumeci SA, Hagerman RJ, Ferri R, Bosco P, Dalla Bernardina B, Tassinari CA, et al. Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia. 1999; 40(8):1092-9. PMID: 10448821.
    • (1999) Epilepsia , vol.40 , Issue.8 , pp. 1092-1099
    • Musumeci, S.A.1    Hagerman, R.J.2    Ferri, R.3    Bosco, P.4    Dalla, B.B.5    Tassinari, C.A.6
  • 4
    • 84896732761 scopus 로고    scopus 로고
    • Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile x syndrome
    • PMID: 24578575
    • Colak D, Zaninovic N, Cohen MS, Rosenwaks Z, Yang WY, Gerhardt J, et al. Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. Science. 2014; 343(6174):1002-5. doi: 10.1126/science.1245831 PMID: 24578575.
    • (2014) Science , vol.343 , Issue.6174 , pp. 1002-1005
    • Colak, D.1    Zaninovic, N.2    Cohen, M.S.3    Rosenwaks, Z.4    Yang, W.Y.5    Gerhardt, J.6
  • 5
    • 84856879093 scopus 로고    scopus 로고
    • Molecular mechanisms of fragile x syndrome: A twenty-year perspective
    • PMID: 22017584
    • Santoro MR, Bray SM, Warren ST. Molecular mechanisms of fragile X syndrome: A twenty-year perspective. Annu Rev Pathol. 2012; 7:219-45. doi:10.1146/annurev-pathol-011811-132457 PMID: 22017584.
    • (2012) Annu Rev Pathol , vol.7 , pp. 219-245
    • Santoro, M.R.1    Bray, S.M.2    Warren, S.T.3
  • 6
    • 84870543150 scopus 로고    scopus 로고
    • Fragile x syndrome: Causes, diagnosis, mechanisms, and therapeutics
    • PMID: 23202739
    • Bagni C, Tassone F, Neri G, Hagerman R. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest. 2012; 122(12):4314-22doi:10.1172/JCI63141 PMID: 23202739.
    • (2012) J Clin Invest , vol.122 , Issue.12 , pp. 4314-4322
    • Bagni, C.1    Tassone, F.2    Neri, G.3    Hagerman, R.4
  • 7
    • 84908384229 scopus 로고    scopus 로고
    • Insights into gabaaergic system deficits in fragile x syndrome lead to clinical trials
    • PMID: 25016041
    • Braat S, Kooy RF. Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials. Neuropharmacology. 2015; 88:48-54doi:10.1016/j.neuropharm.2014.06.028 PMID: 25016041.
    • (2015) Neuropharmacology , vol.88 , pp. 48-54
    • Braat, S.1    Kooy, R.F.2
  • 8
    • 13044251823 scopus 로고    scopus 로고
    • Attenuated sensitivity to neuroactive steroids in g-aminobutyrate type a receptor delta subunit knockout mice
    • PMID: 10536021
    • Mihalek RM, Banerjee PK, Korpi ER, Quinlan JJ, Firestone LL, Mi Z-P, et al. Attenuated sensitivity to neuroactive steroids in g-aminobutyrate type A receptor delta subunit knockout mice. Proc Natl Acad Sci USA. 1999; 96(22):12905-10. PMID: 10536021.
    • (1999) Proc Natl Acad Sci USA , vol.96 , Issue.22 , pp. 12905-12910
    • Mihalek, R.M.1    Banerjee, P.K.2    Korpi, E.R.3    Quinlan, J.J.4    Firestone, L.L.5    Mi, Z.-P.6
  • 9
    • 0031799363 scopus 로고    scopus 로고
    • International union of pharmacology. Xv. Subtypes of g-aminobutyric acida receptors: Classification on the basis of subunit structure and receptor function
    • PMID: 9647870
    • Barnard EA, Skolnick P, Olsen RW, Mohler H, Sieghart W, Biggio G, et al. International Union of Pharmacology. XV. Subtypes of g-aminobutyric acidA receptors: classification on the basis of subunit structure and receptor function. Pharmacol Rev. 1998; 50(2):291-313. PMID: 9647870.
    • (1998) Pharmacol Rev , vol.50 , Issue.2 , pp. 291-313
    • Barnard, E.A.1    Skolnick, P.2    Olsen, R.W.3    Mohler, H.4    Sieghart, W.5    Biggio, G.6
  • 10
    • 41049102573 scopus 로고    scopus 로고
    • Identification of small molecules rescuing fragile x syndrome phenotypes in drosophila
    • 78 PMID: 18327252
    • Chang S, Bray SM, Li Z, Zarnescu DC, He C, Jin P, et al. Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. Nat Chem Biol. 2008; 4(4):256-63 doi:10.1038/nchembio78 PMID: 18327252.
    • (2008) Nat Chem Biol , vol.4 , Issue.4 , pp. 256-263
    • Chang, S.1    Bray, S.M.2    Li, Z.3    Zarnescu, D.C.4    He, C.5    Jin, P.6
  • 11
    • 84856578911 scopus 로고    scopus 로고
    • Pharmacological treatment of fragile x syndrome with gabaergic drugs in a knockout mouse model
    • PMID: 22285772
    • 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(1):244-9. doi:10.1016/j.bbr.2012.01.031PMID: 22285772.
    • (2012) Behav Brain Res , vol.229 , Issue.1 , pp. 244-249
    • Heulens, I.1    D'Hulst, C.2    Van Dam, D.3    De Deyn, P.P.4    Kooy, R.F.5
  • 12
    • 84942021759 scopus 로고    scopus 로고
    • The gaba receptor is an fmrp target with therapeutic potential in fragile x syndrome
    • Braat S, D'Hulst C, Heulens I, De Rubeis S, Mientjes E, Nelson DL, et al. The GABA Receptor is an FMRP Target with Therapeutic Potential in Fragile X Syndrome. Cell Cycle. 2015. doi:10.4161/15384101.2014.989114.
    • (2015) Cell Cycle
    • Braat, S.1    D'Hulst, C.2    Heulens, I.3    De Rubeis, S.4    Mientjes, E.5    Nelson, D.L.6
  • 13
    • 83055184199 scopus 로고    scopus 로고
    • The gaba(a) receptor agonist thip ameliorates specific behavioral deficits in the mouse model of fragile x syndrome
    • PMID: 22067669
    • Olmos-Serrano JL, Corbin JG, Burns MP. The GABA(A) receptor agonist THIP ameliorates specific behavioral deficits in the mouse model of fragile X syndrome. Dev Neurosci. 2011; 33(5):395-403. doi:10.1159/000332884 PMID: 22067669.
    • (2011) Dev Neurosci , vol.33 , Issue.5 , pp. 395-403
    • Olmos-Serrano, J.L.1    Corbin, J.G.2    Burns, M.P.3
  • 14
    • 77954851827 scopus 로고    scopus 로고
    • Defective gabaergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile x syndrome
    • PMID: 20660275
    • Olmos-Serrano JL, Paluszkiewicz SM, Martin BS, Kaufmann WE, Corbin JG, Huntsman MM. Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome. J Neurosci. 2010; 30(29):9929-38. doi:10.1523/jneurosci.1714-10.2010 PMID: 20660275.
    • (2010) J Neurosci , vol.30 , Issue.29 , pp. 9929-9938
    • Olmos-Serrano, J.L.1    Paluszkiewicz, S.M.2    Martin, B.S.3    Kaufmann, W.E.4    Corbin, J.G.5    Huntsman, M.M.6
  • 15
    • 35848962080 scopus 로고    scopus 로고
    • Disease-modifying therapies for Alzheimer disease: Challenges to early intervention
    • PMID: 17938373
    • Cummings JL, Doody R, Clark C. Disease-modifying therapies for Alzheimer disease: challenges to early intervention. Neurology. 2007; 69(16):1622-34. PMID: 17938373.
    • (2007) Neurology , vol.69 , Issue.16 , pp. 1622-1634
    • Cummings, J.L.1    Doody, R.2    Clark, C.3
  • 16
    • 4544231143 scopus 로고    scopus 로고
    • Radionuclide imaging in drug development
    • PMID: 15379658
    • Perkins AC, Frier M. Radionuclide imaging in drug development. Curr Pharm Des. 2004; 10(24):2907- 21. PMID: 15379658.
    • (2004) Curr Pharm des , vol.10 , Issue.24 , pp. 2907-2921
    • Perkins, A.C.1    Frier, M.2
  • 17
    • 0002560053 scopus 로고    scopus 로고
    • Molecular detection of dynamic mutations
    • Adolph KW, editor. Boca Raton, Florida: CRC Press
    • Kooy RF, Oostra BA, Willems PJ. Molecular detection of dynamic mutations. In: Adolph KW, editor. Human Genome Methods. Boca Raton, Florida: CRC Press; 1997. p. 23-53.
    • (1997) Human Genome Methods , pp. 23-53
    • Kooy, R.F.1    Oostra, B.A.2    Willems, P.J.3
  • 18
    • 45449099066 scopus 로고    scopus 로고
    • In vivo characterization and dynamic receptor occupancy imaging of tpa023b, an alpha 2/alpha 3/alpha 5 subtype selective gamma-aminobutyric acid -A partial agonist
    • PMID: 18339360
    • Van Laere K, Bormans G, Sanabria-Bohorquez SM, de Groot T, Dupont P, De Lepeleire I, et al. In vivo characterization and dynamic receptor occupancy imaging of TPA023B, an alpha 2/alpha 3/alpha 5 subtype selective gamma-aminobutyric acid-a partial agonist. Biol Psychiatry. 2008; 64(2):153-61. doi:10.1016/j.biopsych.2008.01.021 PMID: 18339360.
    • (2008) Biol Psychiatry , vol.64 , Issue.2 , pp. 153-161
    • Van Laere, K.1    Bormans, G.2    Sanabria-Bohorquez, S.M.3    De, G.T.4    Dupont, P.5    De Lepeleire, I.6
  • 19
    • 34547846251 scopus 로고    scopus 로고
    • Consensus nomenclature for in vivo imaging of reversibly binding radioligands
    • PMID: 17519979
    • Innis RB, Cunningham VJ, Delforge J, Fujita M, Gjedde A, Gunn RN, et al. Consensus nomenclature for in vivo imaging of reversibly binding radioligands. J Cereb Blood Flow Metab. 2007; 27(9):1533-9. doi:10.1038/sj.jcbfm.9600493 PMID: 17519979.
    • (2007) J Cereb Blood Flow Metab , vol.27 , Issue.9 , pp. 1533-1539
    • Innis, R.B.1    Cunningham, V.J.2    Delforge, J.3    Fujita, M.4    Gjedde, A.5    Gunn, R.N.6
  • 20
    • 44349147286 scopus 로고    scopus 로고
    • Measurement of gabaa receptor binding in vivo with [11c]flumazenil: A test-retest study in healthy subjects
    • PMID: 18411060
    • Salmi E, Aalto S, Hirvonen J, Langsjo JW, Maksimow AT, Oikonen V, et al. Measurement of GABAA receptor binding in vivo with [11C]flumazenil: A test-retest study in healthy subjects. Neuroimage. 2008; 41(2):260-9. doi:10.1016/j.neuroimage.2008.02.035 PMID: 18411060.
    • (2008) Neuroimage , vol.41 , Issue.2 , pp. 260-269
    • Salmi, E.1    Aalto, S.2    Hirvonen, J.3    Langsjo, J.W.4    Maksimow, A.T.5    Oikonen, V.6
  • 21
    • 33745551445 scopus 로고    scopus 로고
    • Metabolic imaging of anterior capsular stimulation in refractory obsessive-compulsive disorder: A key role for the subgenual anterior cingulate and ventral striatum
    • PMID: 16644742
    • Van Laere K, Nuttin B, Gabriels L, Dupont P, Rasmussen S, Greenberg BD, et al. Metabolic imaging of anterior capsular stimulation in refractory obsessive-compulsive disorder: A key role for the subgenual anterior cingulate and ventral striatum. J Nucl Med. 2006; 47(5):740-7. PMID: 16644742.
    • (2006) J Nucl Med , vol.47 , Issue.5 , pp. 740-747
    • Van Laere, K.1    Nuttin, B.2    Gabriels, L.3    Dupont, P.4    Rasmussen, S.5    Greenberg, B.D.6
  • 22
    • 3242790134 scopus 로고    scopus 로고
    • Genetic modifiers in mice: The example of the fragile x mouse model
    • PMID: 15237233
    • Errijgers V, Kooy RF. Genetic modifiers in mice: The example of the fragile X mouse model. Cytogenet Genome Res. 2004; 105:448-54. PMID: 15237233.
    • (2004) Cytogenet Genome Res , vol.105 , pp. 448-454
    • Errijgers, V.1    Kooy, R.F.2
  • 23
    • 27644472190 scopus 로고    scopus 로고
    • Positron emission tomography methods with potential for increased understanding of mental retardation and developmental disabilities
    • PMID: 16240413
    • Sundaram SK, Chugani HT, Chugani DC. Positron emission tomography methods with potential for increased understanding of mental retardation and developmental disabilities. Ment Retard Dev Disabil Res Rev. 2005; 11(4):325-30. PMID: 16240413.
    • (2005) Ment Retard Dev Disabil Res Rev , vol.11 , Issue.4 , pp. 325-330
    • Sundaram, S.K.1    Chugani, H.T.2    Chugani, D.C.3
  • 24
    • 18344386200 scopus 로고    scopus 로고
    • Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder
    • PMID: 12092907
    • Menold MM, Shao Y, Wolpert CM, Donnelly SL, Raiford KL, Martin ER, et al. Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder. J Neurogenet. 2001; 15(3-4):245- 59. PMID: 12092907.
    • (2001) J Neurogenet , vol.15 , Issue.3-4 , pp. 245-259
    • Menold, M.M.1    Shao, Y.2    Wolpert, C.M.3    Donnelly, S.L.4    Raiford, K.L.5    Martin, E.R.6
  • 25
    • 0026338111 scopus 로고
    • Localization of the gene encoding the gabaa receptor beta 3 subunit to the angelman/prader-willi region of human chromosome 15
    • PMID: 1714232
    • Wagstaff J, Knoll JH, Fleming J, Kirkness EF, Martin-Gallardo A, Greenberg F, et al. Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am J Hum Genet. 1991; 49(2):330-7. PMID: 1714232.
    • (1991) Am J Hum Genet , vol.49 , Issue.2 , pp. 330-337
    • Wagstaff, J.1    Knoll, J.H.2    Fleming, J.3    Kirkness, E.F.4    Martin-Gallardo, A.5    Greenberg, F.6
  • 26
    • 11144358664 scopus 로고    scopus 로고
    • Gabaa receptor abnormalities in prader-willi syndrome assessed with positron emission tomography and [11c]flumazenil
    • PMID: 15109994
    • Lucignani G, Panzacchi A, Bosio L, Moresco RM, Ravasi L, Coppa I, et al. GABAA receptor abnormalities in Prader-Willi syndrome assessed with positron emission tomography and [11C]flumazenil. Neuroimage. 2004; 22(1):22-8. PMID: 15109994.
    • (2004) Neuroimage , vol.22 , Issue.1 , pp. 22-28
    • Lucignani, G.1    Panzacchi, A.2    Bosio, L.3    Moresco, R.M.4    Ravasi, L.5    Coppa, I.6
  • 27
    • 0034745606 scopus 로고    scopus 로고
    • Decreased binding of [11c]flumazenil in angelman syndrome patients with gaba(a) receptor beta3 subunit deletions
    • PMID: 11198279
    • Holopainen IE, Metsahonkala EL, Kokkonen H, Parkkola RK, Manner TE, Nagren K, et al. Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABA(A) receptor beta3 subunit deletions. Ann Neurol. 2001; 49(1):110-3. PMID: 11198279.
    • (2001) Ann Neurol , vol.49 , Issue.1 , pp. 110-113
    • Holopainen, I.E.1    Metsahonkala, E.L.2    Kokkonen, H.3    Parkkola, R.K.4    Manner, T.E.5    Nagren, K.6
  • 28
    • 33750726094 scopus 로고    scopus 로고
    • Decreased expression of the gabaa receptor in fragile x syndrome
    • PMID: 17046729
    • D'Hulst C, De Geest N, Reeve SP, Van Dam D, De Deyn PP, Hassan BA, et al. Decreased expression of the GABAA receptor in fragile X syndrome. Brain Res. 2006; 1121(1):238-45. PMID: 17046729.
    • (2006) Brain Res , vol.1121 , Issue.1 , pp. 238-245
    • D'Hulst, C.1    De Geest, N.2    Reeve, S.P.3    Van Dam, D.4    De Deyn, P.P.5    Hassan, B.A.6
  • 29
    • 58249135425 scopus 로고    scopus 로고
    • Expression of the gabaergic system in animal models for fragile x syndrome and fragile x associated tremor/ataxia syndrome fxtas
    • PMID: 19070606
    • D'Hulst C, Heulens I, Brouwer JR, Willemsen R, De Geest N, Reeve SP, et al. 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. doi:10.1016/j.brainres.2008.11.075 PMID: 19070606.
    • (2009) Brain Res , vol.1253 , pp. 176-183
    • D'Hulst, C.1    Heulens, I.2    Brouwer, J.R.3    Willemsen, R.4    De Geest, N.5    Reeve, S.P.6
  • 30
    • 34447621203 scopus 로고    scopus 로고
    • The gaba(a) receptor: A novel target for treatment of fragile x?
    • PMID: 17590448
    • D'Hulst C, Kooy RF. The GABA(A) receptor: A novel target for treatment of fragile X? Trends Neurosci. 2007; 30(8):425-31. PMID: 17590448.
    • (2007) Trends Neurosci , vol.30 , Issue.8 , pp. 425-431
    • D'Hulst, C.1    Kooy, R.F.2
  • 31
    • 78049336409 scopus 로고    scopus 로고
    • Potential therapeutic interventions for fragile x syndrome
    • PMID: 20864408
    • Levenga J, de Vrij FMS, Oostra BA, Willemsen R. Potential therapeutic interventions for fragile X syndrome. Trends Mol Med. 2010; 16(11):516-27. doi:10.1016/j.molmed.2010.08.005 PMID: 20864408.
    • (2010) Trends Mol Med , vol.16 , Issue.11 , pp. 516-527
    • Levenga, J.1    De Vrij, F.M.S.2    Oostra, B.A.3    Willemsen, R.4
  • 32
    • 79955039243 scopus 로고    scopus 로고
    • Fragile x syndrome: From gene discovery to therapy
    • 3785 pii
    • Heulens I, Kooy F. Fragile X syndrome: from gene discovery to therapy. Front Biosci. 2011; 16:1211- 32. 3785 [pii].
    • (2011) Front Biosci , vol.16 , pp. 1211-1232
    • Heulens, I.1    Kooy, F.2
  • 33
    • 84899579632 scopus 로고    scopus 로고
    • Fragile x syndrome neurobiology translates into rational therapy
    • PMID: 24508819
    • Braat S, Kooy RF. Fragile X syndrome neurobiology translates into rational therapy. Drug Discov Today. 2014; 19(4):510-9. doi:10.1016/j.drudis.2014.01.013 PMID: 24508819.
    • (2014) Drug Discov Today , vol.19 , Issue.4 , pp. 510-519
    • Braat, S.1    Kooy, R.F.2
  • 34
    • 3042647610 scopus 로고    scopus 로고
    • The mglur theory of fragile x mental retardation
    • PMID: 15219735
    • Bear MF, Huber KM, Warren ST. The mGluR theory of fragile X mental retardation. Trends Neurosci. 2004; 27(7):370-7. PMID: 15219735.
    • (2004) Trends Neurosci , vol.27 , Issue.7 , pp. 370-377
    • Bear, M.F.1    Huber, K.M.2    Warren, S.T.3
  • 35
    • 78650937072 scopus 로고    scopus 로고
    • Epigenetic modification of the fmr1 gene in fragile x syndrome is associated with differential response to the mglur5 antagonist afq056
    • 3/64/64ra1 [pii] doi, PMID: 21209411
    • Jacquemont S, Curie A, des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, et al. Epigenetic modification of the FMR1 Gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med. 2011; 3(64):64ra1. 3/64/64ra1 [pii] doi10.1126/scitranslmed.3001708 PMID: 21209411.
    • (2011) Sci Transl Med , vol.3 , Issue.64 , pp. 64ra1
    • Jacquemont, S.1    Curie, A.2    Des Portes, V.3    Torrioli, M.G.4    Berry-Kravis, E.5    Hagerman, R.J.6
  • 36
    • 84866628742 scopus 로고    scopus 로고
    • Effects of stx209 (arbaclofen) on neurobehavioral function in children and adults with fragile x syndrome: A randomized, controlled, phase 2 trial
    • Berry-Kravis EM, Hessl D, Rathmell B, Zarevics P, Cherubini M, Walton-Bowen K, et al. Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial. Sci Transl Med. 2012; 4(152):152ra27. doi:10.1126/scitranslmed.3004214.
    • (2012) Sci Transl Med , vol.4 , Issue.152 , pp. 152ra27
    • Berry-Kravis, E.M.1    Hessl, D.2    Rathmell, B.3    Zarevics, P.4    Cherubini, M.5    Walton-Bowen, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.