Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056
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An antagonist for the metabotropic glutamate receptor may improve symptoms in patients with fragile X syndrome whose FMR1 promoters are fully methylated.
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Post-hoc analysis of a mavoglurant phase IIa trial showed improvement in fully methylated FXS patients, but this was not replicated in the phase IIb trials.
“Results from post-hoc analyses of a mavoglurant phase IIa trial71 showed improvement in patients with FXS and full methylation but were not replicated in the two phase IIb trials.”
From Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome (2018) · cites this paper as [71]
A broad range of secondary outcome measures were tested to search for a sensitive measure or subgroup of responders to inform the design of subsequent phase IIb and III trials.
“As a result, a broad range of secondary outcome measures were tested to search for a sensitive measure or subgroup of responders to inform the design of subsequent phase IIb and III trials68,71.”
From Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome (2018) · cites this paper as [71]
In a small trial, AFQ056 improved inappropriate speech, stereotypic behavior, and hyperactivity in adults with fragile X syndrome who have a fully methylated full mutation allele but not in those with mosaicism.
“Intriguingly, in this small trial, improvements in inappropriate speech, stereotypic behavior, and hyperactivity and efficacy have been reported in adults with FXS who have a fully methylated FM allele but not in those with mosaicism (36).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [36]
Elevated mGluR5-mediated signaling and protein synthesis in fragile X knockout mice provided the rationale for testing mGluR5 antagonists in fragile X clinical trials.
“Discovery of elevated metabotropic glutamate receptor subtype 5 (mGluR5)–mediated signaling and protein synthesis in fragile X knockout mice (53–56) provided the rationale for testing mGluR5 antagonists in ongoing fragile X clinical trials.”
From Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism (2012) · cites this paper as [56]
Cites
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 · 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
Varieties of Repetitive Behavior in Autism: Comparisons to Mental Retardation
Bodfish, J. W., Symons, F. J., Parker, D. E., & Lewis, M. H. (2000) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005596502855 · Cited by 1,223 · see citing works
Correction of Fragile X Syndrome in Mice
Dölen, G., Osterweil, E., Rao, B. S. S., Smith, G. B., Auerbach, B. D., Chattarji, S., & Bear, M. F. (2007) · Neuron · doi:10.1016/j.neuron.2007.12.001 · Cited by 979 · see citing works
DNA methylation represses <i>FMR-1</i> transcription in fragile X syndrome
Sutcliffe, J. S., Nelson, D. L., Zhang, F., Pieretti, M., Caskey, C. T., Saxe, D., & Warren, S. T. (1992) · Human Molecular Genetics · doi:10.1093/hmg/1.6.397 · Cited by 680 · see citing works
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
Advances in the Treatment of Fragile X Syndrome
Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y., Tartaglia, N., Lachiewicz, A., Kronk, R., Delahunty, C., Hessl, D., Visootsak, J., et al. (2009) · Pediatrics · doi:10.1542/peds.2008-0317 · Cited by 596 · see citing works
Self-citationSuppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP
Yan, Q. J., Rammal, M., Tranfaglia, M., & Bauchwitz, R. P. (2005) · Neuropharmacology · doi:10.1016/j.neuropharm.2005.06.004 · Cited by 521 · see citing works
McBride, S. M. J., Choi, C. H., Wang, Y., Liebelt, D. A., Braunstein, E. M., Ferreiro, D., Sehgal, A., Siwicki, K. K., Dockendorff, T. C., Nguyen, H. T., et al. (2005) · Neuron · doi:10.1016/j.neuron.2005.01.038 · Cited by 473 · see citing works
Individual differences in reward responding explain placebo-induced expectations and effects
Scott, D. J., Stohler, C. S., Egnatuk, C. M., Wang, H., Koeppe, R. A., & Zubieta, J.-K. (2007) · Neuron · doi:10.1016/j.neuron.2007.06.028 · Cited by 466 · see citing works
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
Berry-Kravis, E., Hessl, D., Coffey, S., Hervey, C., Schneider, A., Yuhas, J., Hutchison, J., Snape, M., Tranfaglia, M., Nguyen, D. V., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.063701 · Cited by 411 · see citing works
Self-citationPorter, R. H. P., Jaeschke, G., Spooren, W., Ballard, T. M., Büttelmann, B., Kolczewski, S., Peters, J.-U., Prinssen, E., Wichmann, J., Vieira, E., et al. (2005) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.105.089839 · Cited by 308 · see citing works
Aman, M. G., Wh, B., & WOLFORD, P. L. (1995) · PubMed · Cited by 242 · see citing works
Open-Label Treatment Trial of Lithium to Target the Underlying Defect in Fragile X Syndrome
Berry-Kravis, E., Sumis, A., Hervey, C., Nelson, M., Porges, S. W., Weng, N., Weiler, I. J., & Greenough, W. T. (2008) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e31817dc447 · Cited by 215 · see citing works
Self-citationTucker, B., Richards, R. I., & Lardelli, M. T. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl422 · Cited by 133 · see citing works
Gravholt, C. H., & Næraa, R. W. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19971112)72:4 · Cited by 92 · see citing works
Mitrano, D. A., & Smith, Y. (2006) · The Journal of Comparative Neurology · doi:10.1002/cne.21214 · Cited by 74 · see citing works
Placebo effects in developmental disabilities: Implications for research and practice
SANDLER, A. D. (2005) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20065 · Cited by 72 · see citing works
Zeier, Z. R., Kumar, A., Bodhinathan, K., Feller, J. A., Foster, T. C., & Bloom, D. C. (2009) · Gene Therapy · doi:10.1038/gt.2009.83 · Cited by 68 · see citing works
Neri, G., & Chiurazzi, P. (1999) · Advances in Genetics · doi:10.1002/1096-8628(200023)97:3 · Cited by 66 · see citing works
Self-citationmGluR5 antagonists: discovery, characterization and drug development.
Gasparini, F., Bilbe, G., Gomez‐Mancilla, B., & Spooren, W. P. J. M. (2008) · PubMed · Cited by 64 · see citing works
Self-citationImplications for Research and Practice
Linn, P. L., & Miller, E. C. (2003) · doi:10.4324/9781410609434.ch21 · Cited by 61 · see citing works
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de la Torre-Ubieta, L., Won, H., Stein, J. L., & Geschwind, D. H. (2016) · Nature Medicine · doi:10.1038/nm.4071 · Cited by 827 · see citing works
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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Ni, Y. Z., & Wu, J. (2014) · Organic & Biomolecular Chemistry · doi:10.1039/c3ob42554a · Cited by 684 · see citing works
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Kepp, K. P. (2012) · Chemical Reviews · doi:10.1021/cr300009x · Cited by 672 · 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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Self-citationLee, B., Lee, K., Panda, S., Gonzales-Rojas, R., Chong, A., Bugay, V., Park, H. M., Brenner, R., Murthy, N., & Lee, H. Y. (2018) · Nature Biomedical Engineering · doi:10.1038/s41551-018-0252-8 · Cited by 361 · see citing works
Howes, O. D., Rogdaki, M., Findon, J. L., Wichers, R. H., Charman, T., King, B. H., Loth, E., McAlonan, G. M., McCracken, J. T., Parr, J. R., et al. (2018) · Journal of Psychopharmacology · doi:10.1177/0269881117741766 · Cited by 342 · see citing works
Satterthwaite, T. D., Connolly, J. J., Ruparel, K., Calkins, M. E., Jackson, C., Elliott, M. A., Roalf, D. R., Hopson, R., Prabhakaran, K., Behr, M., et al. (2016) · NeuroImage · doi:10.1016/j.neuroimage.2015.03.056 · Cited by 335 · see citing works
Yan, Z., Gibson, S. A., Buckley, J. A., Qin, H., & Benveniste, E. N. (2018) · Clinical Immunology · doi:10.1016/j.clim.2016.09.014 · Cited by 318 · see citing works
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Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63141 · Cited by 321 · see citing works
Self-citationBerry-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 · see citing works
Self-citationSheridan, S. D., Theriault, K. M., Reis, S. A., Zhou, F., Madison, J. M., Daheron, L. M., Loring, J. F., & Haggarty, S. J. (2011) · PLoS ONE · doi:10.1371/journal.pone.0026203 · Cited by 313 · see citing works
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Tassone, F., Iong, K. P., Tong, T., Lo, J., Gane, L. W., Berry‐Kravis, E., Nguyen, D. V., Mu, L. Y., Laffin, J. J. S., Bailey, D. B., et al. (2012) · Genome Medicine · doi:10.1186/gm401 · Cited by 318 · see citing works
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LeBlanc, J. J., & Fagiolini, M. (2011) · Neural Plasticity · doi:10.1155/2011/921680 · Cited by 301 · see citing works
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Patten, J., & Wang, K. (2020) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2020.09.005 · Cited by 303 · see citing works
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 · see citing works
Self-citationBerry-Kravis, E., Des Portes, V., Hagerman, R., Jacquemont, S., Charles, P., Visootsak, J., Brinkman, M., Rerat, K., Koumaras, B., Zhu, L., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aab4109 · Cited by 270 · see citing works
Self-citationAntiretroviral treatment of HIV-1 prevents transmission of HIV-1: where do we go from here?
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Silverman, J. L., Smith, D. G., Rizzo, S. J. S., Karras, M. N., Turner, S. M., Tolu, S. S., Bryce, D. K., Smith, D. L., Fonseca, K., Ring, R. H., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003501 · Cited by 251 · see citing works
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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 · see citing works
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Tracey, R., Manikkam, M., Guerrero‐Bosagna, C., & Skinner, M. K. (2013) · Reproductive Toxicology · doi:10.1016/j.reprotox.2012.11.011 · Cited by 223 · see citing works
Khwaja, O., Ho, E., Barnes, K. V., O’Leary, H. M., Pereira, L. M., Finkelstein, Y., Nelson, C. A., Vogel‐Farley, V. K., DeGregorio, G., Holm, I. A., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1311141111 · Cited by 209 · see citing works
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Walter, J., Maldonado-Gómez, M. X., & Martínez, I. (2017) · Current Opinion in Biotechnology · doi:10.1016/j.copbio.2017.08.008 · Cited by 198 · see citing works
Vajjhala, P. R., Mirams, R. E., & Hill, J. M. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.381228 · Cited by 196 · see citing works
Human APOE4 increases microglia reactivity at Aβ plaques in a mouse model of Aβ deposition
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Zeng, X., Morgenstern, R., & Nyström, A. M. (2013) · Biomaterials · doi:10.1016/j.biomaterials.2013.10.042 · Cited by 135 · see citing works
FragXis Study Group, Youssef, E. A., Berry-Kravis, E., Czech, C., Hagerman, R. J., Hessl, D., Wong, C. Y., Rabbia, M., Deptula, D., John, A., et al. (2018) · Neuropsychopharmacology · doi:10.1038/npp.2017.177 · Cited by 133 · see citing works
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Hessl, D., Sansone, S. M., Berry-Kravis, E., Riley, K., Widaman, K. F., Abbeduto, L., Schneider, A., Coleman, J., Oaklander, D., Rhodes, K. C., et al. (2016) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-016-9167-4 · Cited by 126 · see citing works
Self-citationVeenstra-VanderWeele, J., & Blakely, R. D. (2012) · Neuropsychopharmacology · doi:10.1038/npp.2011.185 · Cited by 128 · see citing works
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Self-citationCremolini, C., Morano, F., Moretto, R., Berenato, R., Tamborini, E., Perrone, F., Rossini, D., Gloghini, A., Busico, A., Zucchelli, G., et al. (2017) · Annals of Oncology · doi:10.1093/annonc/mdx546 · Cited by 122 · see citing works
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Dahlhaus, R. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00041 · Cited by 118 · see citing works
Daughton, C. (2014) · Science of the Total Environment · doi:10.1016/j.scitotenv.2013.06.111 · Cited by 101 · see citing works
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Wang, D., Tong, Y., Li, Y., Tian, Z., Cao, R., & Yang, B. (2013) · Diamond and Related Materials · doi:10.1016/j.diamond.2013.04.002 · Cited by 116 · see citing works
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Chaki, S., Ago, Y., Pałucha-Poniewiera, A., Matrisciano, F., & Pilc, A. (2012) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.05.022 · Cited by 114 · see citing works
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Mignani, S. M., Kazzouli, S. E., Bousmina, M., & Majoral, J. (2013) · Progress in Polymer Science · doi:10.1016/j.progpolymsci.2013.03.003 · Cited by 114 · see citing works
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Franklin, A. V., King, M. K., Palomo, V., Martı́nez, A., McMahon, L. L., & Jope, R. S. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.08.003 · Cited by 109 · see citing works
Jiang, X., Abgottspon, D., Kleeb, S., Rabbani, S., Scharenberg, M., Wittwer, M., Haug, M. C., Schwardt, O., & Ernst, B. (2012) · Journal of Medicinal Chemistry · doi:10.1021/jm300192x · Cited by 110 · see citing works
PolyPEGylated nanodiamond for intracellular delivery of a chemotherapeutic drug
Zhang, X., Wang, S., Fu, C., Feng, L., Ji, Y. J., Tao, L., Li, S., & Wei, Y. (2012) · Polymer Chemistry · doi:10.1039/c2py20457f · Cited by 110 · see citing works
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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
Bailey, D. B., Berry‐Kravis, E., Wheeler, A., Raspa, M., Merrien, F., Ricart, J., Koumaras, B., Rosenkranz, G. K., Tomlinson, M., von Raison, F., et al. (2015) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-015-9134-5 · Cited by 102 · see citing works
Self-citation
- Authors
- Jacquemont, S., Curie, A., des Portes, V., Torrioli, M. G., Berry-Kravis, E., Hagerman, R. J., Ramos, F. J., Cornish, K., He, Y., Paulding, C., Neri, G., Chen, F., Hadjikhani, N., Martinet, D., Meyer, J., Beckmann, J. S., Delange, K., Brun, A., Bussy, G., Gasparini, F., Hilse, T., Floesser, A., Branson, J., Bilbe, G., Johns, D., & Gomez-Mancilla, B.
- Affiliations
- Centre Hospitalier Universitaire Vaudois (CH)
- Centre National de la Recherche Scientifique (FR)
- National Reference Center for Fragile X and Other XLMR, Hospices Civils de Lyon, Université de Lyon and CNRS UMR 5230 (L2C2), F-69675 Bron, France.
- Università Cattolica del Sacro Cuore (IT)
- Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, IL 60612, USA.
- University of California, Davis (US)
- Universidad de Zaragoza (ES)
- Monash University (AU)
- Biomarker Development, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA.
- Harvard University (US)
- Novartis (Switzerland) (CH)
- Neuroscience Translational Medicine, Novartis Institutes for Biomedical Research, Novartis Pharma AG, CH-4056 Basel, Switzerland.
- Corresponding author
- Jacquemont, Sébastien
- Curie, Aurore
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2011-01-05
- Volume
- 3
- Issue
- 64
- Pages
- 64ra1-64ra1
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- OpenAlex
- W2103709346
- Cited by
- 609
- References
- 22
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 6 · 2023: 10 · 2022: 7 · 2021: 29 · 2020: 27 · 2019: 17 · 2018: 26 · 2017: 53 · 2016: 51 · 2015: 56 · 2014: 76 · 2013: 104 · 2012: 89
- FWCI
- 64.25
- Type
- journal article
- Language
- en
- Open access
- green
- infoscience.epfl.ch
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Infoscience (Ecole Polytechnique Fédérale de Lausanne) (submittedVersion)
- Infoscience (Ecole Polytechnique Fédérale de Lausanne) (submittedVersion, cc-by-nc-nd)
- IRIS (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- fragile X syndrome, FMR1 gene, mGluR5 antagonist, CGG repeat expansion, epigenetic silencing, aberrant behavior, Aberrant Behavior Checklist, metabotropic glutamate receptors, intellectual disability, treatment response
- MeSH terms
- Adult, Fragile X Syndrome, Humans, Male, Middle Aged, Promoter Regions, Genetic, Receptors, Metabotropic Glutamate, DNA Methylation, Epigenesis, Genetic, Fragile X Messenger Ribonucleoprotein 1, Fragile X Mental Retardation Protein, Young Adult, Receptor, Metabotropic Glutamate 5
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