The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056
Open accessAbstract
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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In the citing paper
“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]
In the citing paper
“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 the citing paper
“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]
In the citing paper
“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]
Citations
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
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
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
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
DNA methylation represses FMR-1 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
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
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
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
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 484
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
Research works printed but not linked: 2
- Friedman C. T. H., Davis L. J., Ciccone P. E., Rubin R. T., Phase II double blind controlled study of a new anxiolytic, fenobam (McN-3377) vs placebo. Curr. Ther. Res. 27, 144–151 (1980). http://www.axonmedchem.com/product/1345fenobam.html
- S. Sparrow D. Balla D. Cicchetti Vineland Adaptive Behavior Scales: Interview Edition (American Guidance Service Inc. Circle Pines MN 1984).
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Items 601–613 of 613
Berry‐Kravis, E., Hagerman, R., Budimirovic, D. B., Erickson, C. A., Heussler, H., Tartaglia, N., Cohen, J., Tassone, F., Dobbins, T., Merikle, E. P., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21628813
Self-citationProtic, D. D., Stojković, M., & Budimirovic, D. B. (2025) · Medicinska istrazivanja · doi:10.5937/medi0-60213 · Cited by 1
Pathophysiological consequences of a Fragile X missense mutation
Garcia, M. P. (2020) · theses.fr (ABES) · doi:10.70675/b8e86263z5926z4a83zbaf6z0f61bf2d15f9
Summary and Conclusion: Thinking About Latent BL
Griffin, B. E. (2012) · Springer eBooks · doi:10.1007/978-1-4614-4313-1_16
Paluszkiewicz, S. M. (2011) · DigitalGeorgetown (Georgetown University Library)
Apport des neurosciences en pratique clinique : exemple de l’autisme
Bonnet‐Brilhault, F., Gomot, M., & Laumonnier, F. (2014) · Springer eBooks · doi:10.1007/978-2-8178-0505-4_11
Jastrzębski, K., Kacperska, M. J., Pietras, T., & Radek, M. (2013) · DOAJ (DOAJ: Directory of Open Access Journals)
Metadata
- 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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