The DOI matches its Crossref record; 69 of the 69 references it cites were found in a registry or an index.
Abnormal Striatal GABA Transmission in the Mouse Model for the Fragile X Syndrome
Open accessAbstract
Background Structural and functional neuroimaging studies suggest abnormal activity in the striatum of patients with the fragile X syndrome (FXS), the most common form of inherited mental retardation.Methods Neurophysiological and immunofluorescence experiments in striatal brain slices. We studied the synaptic transmission in a mouse model for FXS, as well as the subcellular localization of fragile X mental retardation protein (FMRP) and brain cytoplasmic (BC1) RNA in striatal axons.Results Our results show that absence of FMRP is associated with apparently normal striatal glutamate-mediated transmission, but abnormal gamma-aminobutyric acid (GABA) transmission. This effect is likely secondary to increased transmitter release from GABAergic nerve terminals. We detected the presence of FMRP in axons of striatal neurons and observed a selective increase in the frequency of spontaneous and miniature inhibitory postsynaptic currents (sIPSCs, mIPSCs) in fmr1-knockout mice. We also observed reduced paired-pulse ratio of evoked IPSCs, a finding that is consistent with the idea that transmitter release probability from striatal GABAergic nerve terminals is higher than normal in these mutants. Finally, we have identified the small noncoding BC1 RNA as a critical coplayer of FMRP in the regulation of striatal synaptic transmission.Conclusions Understanding the physiologic action of FMRP and the synaptic defects associated with GABA transmission might be useful to design appropriate pharmacologic interventions for FXS.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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 [76]
Experimental — accuracy not yet measuredIn the citing paper
“FMRP activity is regulated in response to metabotropic glutamate receptors (mGluRs) (78), 2-amino-3-(5-methyl-3-oxo-1,2-oxazol-4-yl) propanoic acid (AMPA) receptors (79), γ-aminobutyric acid (GABA) receptors (76,80,81), N-methyl-d-aspartate (NMDA) receptors (82)(83)(84), and the tyrosine kinase or BDNF/NT-3 growth factor (TrkB) receptors (85).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [76]
In the citing paper
“Furthermore, extensive electrophysiological studies in the Fmr1 KO mouse model indicated an excitation/inhibition (glutamate/GABA; see below) imbalance (75)(76)(77).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [76]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., & Mandel, J. L. (1991) · Science · doi:10.1126/science.252.5009.1097 · Cited by 1,499
Altered synaptic plasticity in a mouse model of fragile X mental retardation
Huber, K. M., Gallagher, S. M., Warren, S. T., & Bear, M. F. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.122205699 · Cited by 1,349
Brown, V., Jin, P., Ceman, S., Darnell, J. C., O'Donnell, W. T., Tenenbaum, S. A., Jin, X., Feng, Y., Wilkinson, K. D., Keene, J. D., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00568-2 · Cited by 1,109
Fmr1 knockout mice: A model to study fragile X mental retardation
THEDUTCHBELGIANFRAGILEXCONSOR (1994) · Cell · doi:10.1016/0092-8674(94)90569-x · Cited by 1,108
Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function
Darnell, J. C., Jensen, K. B., Jin, P., Brown, V., Warren, S. T., & Darnell, R. B. (2001) · Cell · doi:10.1016/s0092-8674(01)00566-9 · Cited by 952
Inhibitory control of neostriatal projection neurons by GABAergic interneurons
Koós, T. Z., & Tepper, J. M. (1999) · Nature Neuroscience · doi:10.1038/8138 · Cited by 863
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
Self-citationNeuronal RNA Granules: Movers and Makers
Kiebler, M. A., & Bassell, G. J. (2006) · Neuron · doi:10.1016/j.neuron.2006.08.021 · Cited by 595
Krichevsky, A. M., & Kosik, K. S. (2001) · Neuron · doi:10.1016/s0896-6273(01)00508-6 · Cited by 536
Wilson, C. J., & Groves, P. M. (1980) · The Journal of Comparative Neurology · doi:10.1002/cne.901940308 · Cited by 527
Cited by
Sorted by citations
Items 101–171 of 171
Modelling fragile X syndrome in the laboratory setting: A behavioral perspective
Melancia, F., & Trezza, V. (2018) · Behavioural Brain Research · doi:10.1016/j.bbr.2018.04.042 · Cited by 31
Handling FMRP and its molecular partners: Structural insights into Fragile X Syndrome
D’Annessa, I., Cicconardi, F., & Marino, D. D. (2018) · Progress in Biophysics and Molecular Biology · doi:10.1016/j.pbiomolbio.2018.07.001 · Cited by 31
Amygdala Regulation of Fear and Emotionality in Fragile X Syndrome
Olmos-Serrano, J. L., & Corbin, J. G. (2011) · Developmental Neuroscience · doi:10.1159/000329424 · Cited by 25
Huebschman, J. L., Corona, K. S., Guo, Y., & Smith, L. N. (2020) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2020.00161 · Cited by 24
Advances in understanding fragile X syndrome and related disorders
Rooms, L., & Kooy, R. F. (2011) · Current Opinion in Pediatrics · doi:10.1097/mop.0b013e32834c7f1a · Cited by 22
Synaptopathology in autism spectrum disorders: Complex effects of synaptic genes on neural circuits
Wang, X., Kéry, R., & Xiong, Q. (2017) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.09.026 · Cited by 24
GABAergic dysfunction in pediatric neuro-developmental disorders
Smith‐Hicks, C. L. (2013) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2013.00269 · Cited by 21
Increasing our understanding of human cognition through the study of fragile X syndrome
Cook, D., Nuro, E., & Murai, K. K. (2013) · Developmental Neurobiology · doi:10.1002/dneu.22096 · Cited by 22
Fragile X Syndrome: An Update on Developing Treatment Modalities
Healy, A. M., Rush, R., & Ocain, T. D. (2011) · ACS Chemical Neuroscience · doi:10.1021/cn200019z · Cited by 19
Dysregulation of translational control signaling in autism spectrum disorders
Hooshmandi, M., Wong, C., & Khoutorsky, A. (2020) · Cellular Signalling · doi:10.1016/j.cellsig.2020.109746 · Cited by 17
Fragile X Mental Retardation Protein (FMRP) and the Spinal Sensory System
Price, T. J., & Melemedjian, O. K. (2011) · Results and problems in cell differentiation · doi:10.1007/978-3-642-21649-7_4 · Cited by 16
Involvement and Therapeutic Potential of the GABAergic System in the Fragile X Syndrome
Heulens, I., D’Hulst, C., Braat, S., Rooms, L., & Kooy, R. F. (2010) · The Scientific World JOURNAL · doi:10.1100/tsw.2010.211 · Cited by 19
Striatal Inhibition of MeCP2 or TSC1 Produces Sociability Deficits and Repetitive Behaviors
Lee, Y., Kim, H., & Han, P. (2018) · Experimental Neurobiology · doi:10.5607/en.2018.27.6.539 · Cited by 18
Schmitt, L., Arzuaga, A. L., Dapore, A. E., Duncan, J., Patel, M., Larson, J. R., Erickson, C. A., Sweeney, J. A., & Ragozzino, M. E. (2023) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2022.1074682 · Cited by 18
Derieux, C., Léauté, A., Brugoux, A., Jaccaz, D., Terrier, C., Pin, J., Kniazeff, J., Merrer, J. L., & Becker, J. A. J. (2022) · Neuropsychopharmacology · doi:10.1038/s41386-022-01317-1 · Cited by 16
Translational endpoints in fragile X syndrome
de Esch, C. E. F., Zeidler, S., & Willemsen, R. (2013) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2013.10.012 · Cited by 16
Fung, L. K., & Reiss, A. L. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.12.015 · Cited by 17
The Role of NRF2 in Trinucleotide Repeat Expansion Disorders
Chang, K., & Chen, C. (2024) · Antioxidants · doi:10.3390/antiox13060649 · Cited by 12
Analysis of Fmr1 Deletion in a Subpopulation of Post‐Mitotic Neurons in Mouse Cortex and Hippocampus
Amiri, A., Sanchez‐Ortiz, E., Cho, W., Birnbaum, S. G., Xu, J., McKay, R. M., & Parada, L. F. (2014) · Autism Research · doi:10.1002/aur.1342 · Cited by 14
Lu, Y. (2019) · Brain Research · doi:10.1016/j.brainres.2019.04.006 · Cited by 14
Perdikaris, P., & Dermon, C. R. (2023) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2023.1120993 · Cited by 11
Verpelli, C., Galimberti, I., Gomez‐Mancilla, B., & Sala, C. (2013) · Developmental Neurobiology · doi:10.1002/dneu.22093 · Cited by 14
Mouse Behavior and Models for Autism Spectrum Disorders
Ricceri, L., Michetti, C., & Scattoni, M. L. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800109-7.00017-0 · Cited by 13
Targeted Treatments for Fragile X Syndrome
Johnson, D., Clark, C. J., & Hagerman, R. J. (2023) · Advances in neurobiology · doi:10.1007/978-3-031-21054-9_10 · Cited by 10
The mGluR Theory of Fragile X: From Mice to Men
Stoppel, L. J., Osterweil, E. K., & Bear, M. F. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804461-2.00009-3 · Cited by 9
Remmers, C. L., & Contractor, A. (2018) · eNeuro · doi:10.1523/eneuro.0137-18.2018 · Cited by 10
FMRP Interacts with RARα in Synaptic Retinoic Acid Signaling and Homeostatic Synaptic Plasticity
Park, E., Lau, A. G., Arendt, K. L., & Chen, L. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22126579 · Cited by 11
Neural substrates for regulating self-grooming behavior in rodents
Li, G., Lu, C., Yin, M., Wang, P., Zhang, P., Wu, J., Wang, W., Wang, D., Wang, M., Liu, J., et al. (2024) · Journal of Zhejiang University SCIENCE B · doi:10.1631/jzus.b2300562 · Cited by 11
Thabault, M., Turpin, V., Balado, É., Fernandes‐Gomes, C., Huot, A.-L., Cantereau, A., Fernagut, P., Jaber, M., & Galvan, L. (2023) · European Journal of Neuroscience · doi:10.1111/ejn.15919 · Cited by 9
On BC1 RNA and the fragile X mental retardation protein
Bagni, C. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0801034105 · Cited by 9
Self-citationDrug Treatments for Neurodevelopmental Disorders: Targeting Signaling Pathways and Homeostasis
Kaufmann, W. E., Luu, S., & Budimirovic, D. B. (2024) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-024-01394-3 · Cited by 8
Brain Cytoplasmic RNAs in Neurons: From Biosynthesis to Function
Lee, Y., Lee, H., Kim, M., & Shin, H. (2020) · Biomolecules · doi:10.3390/biom10020313 · Cited by 9
Diab, A. M., Qi, J., Shahin, I., Milligan, C., & Fawcett, J. P. (2020) · Neuroscience · doi:10.1016/j.neuroscience.2020.09.026 · Cited by 9
Spontaneous Calcium Transients Recorded from Striatal Astrocytes in a Preclinical Model of Autism
Saavedra-Bonilla, H., Varman, D. R., & Reyes‐Haro, D. (2024) · Neurochemical Research · doi:10.1007/s11064-024-04218-5 · Cited by 8
Wegiel, J., Brown, W. T., Fauci, G. L., Adayev, T., Kascsak, R. J., Kascsak, R., Flory, M. J., Kaczmarski, W., Kuchna, I., Nowicki, K., et al. (2018) · Autism Research · doi:10.1002/aur.2003 · Cited by 7
The Use of Peptides in the Treatment of Fragile X Syndrome: Challenges and Opportunities
Romagnoli, A., & Marino, D. D. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.754485 · Cited by 9
Huebschman, J. L., Monterrey, C. A., Foster, D. M., Omoregie, C. C., Cakir, A. E., Sevilla-Gutierrez, A., Chow, E. C., Essoh, A., Guo, Y., & Smith, L. N. (2022) · Brain Research · doi:10.1016/j.brainres.2022.148060 · Cited by 6
Kovács, T., Bánsági, B., Kelemen, O., & Kéri, S. (2014) · Journal of Molecular Neuroscience · doi:10.1007/s12031-014-0257-z · Cited by 6
Trent, S., Hall, J., Connelly, W. M., & Errington, A. C. (2019) · eNeuro · doi:10.1523/eneuro.0364-18.2019 · Cited by 6
Astrocytic GABA controls fidelity of temporal cortical processing in Fragile X Syndrome
Wagner, V. A., Thapa, R., Norman, A. O., Varallo, A., Wimberly, J., Rais, M., Gerasymchuk, D., Piepponen, P. T., Razak, K. A., Castrén, M. L., et al. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.107233 · Cited by 8
GABAergic Dysfunction in Autism and Epilepsy
Genovesi, S., Provenzano, G., Dunleavy, M., Sgadó, P., & Bozzi, Y. (2011) · InTech eBooks · doi:10.5772/17387 · Cited by 4
Yoshimoto, R., & Nakagawa, S. (2023) · Frontiers in RNA Research · doi:10.3389/frnar.2023.1257775 · Cited by 3
Rais (2022) · doi:10.1101/2022.02.08.479618 · Cited by 2
Decoding the complex journeys of RNAs along neurons
Wingfield, J. L., & Puthanveettil, S. V. (2025) · Nucleic Acids Research · doi:10.1093/nar/gkaf293 · Cited by 4
Martin, B. S., & Huntsman, M. M. (2014) · The Receptors · doi:10.1007/978-1-4939-1426-5_13 · Cited by 2
Fragile X Syndrome: A Disorder of Synaptic Protein Synthesis Dynamics
Muddashetty, R. S., Nalavadi, V., & Bassell, G. J. (2012) · Journal of the Indian Institute of Science · Cited by 2
Spine Morphology and Plasticity in X-linked Mental Retardations
Arikkath, J. (2014) · The Open Neuroscience Journal · doi:10.2174/1874082000903010134 · Cited by 1
Investigating Therapeutic Strategies for Fragile X Syndrome in Mice
Michalon, A., & Lindemann, L. (2012) · BioValley monographs · doi:10.1159/000339190 · Cited by 1
Role of mGluR5 and FMRP in mouse primary somatosensory cortex
Wijetunge, L. S. (2009) · OpenGrey (Institut de l'Information Scientifique et Technique)
Fragile X Syndrome: From Pathophysiology to New Therapeutic Perspectives
D’Antoni, S., Spatuzza, M., Carmela, M., Aloisi, E., Musumeci, S. A., & Vincenza, M. (2012) · InTech eBooks · doi:10.5772/31387
Kamm, C. (2013) · Clinical Investigation · doi:10.4155/cli.13.45
Fragile X Syndrome: Steps towards Therapy
Pop, A. (2013) · RePub (Erasmus University Rotterdam)
TheFXG:APresynapticFragileXGranuleExpressedina SubsetofDevelopingBrainCircuits
Christie, S. B., & Akins, M. R. (2009)
Rubeis, S. D. (2010) · Cineca Institutional Research Information System (Tor Vergata University) · doi:10.58015/de-rubeis-silvia_phd2010-01-14
Chapter 12 GABA system dysfunction in autism and related disorders
Horder, J. (2016) · CRC Press eBooks · doi:10.1201/9781315371375-13
The Endocannabinoid System in Fragile X Syndrome
Martin, H. G. S., Neuhofer, D., & Manzoni, O. J. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804461-2.00012-3
Denman, R. B. (2011) · Results and problems in cell differentiation · doi:10.1007/978-3-642-21649-7_19
Sa'diyah, C. (2014) · SKRIPSI Jurusan Kependidikan Sekolah Dasar & Prasekolah - Fakultas Ilmu Pendidikan UM
Excessive Cap-dependent Translation as a Molecular Mechanism Underlying ASD
Klann, E. (2014) · Defense Technical Information Center (DTIC) · doi:10.21236/ada612864
Pagano, J., Landi, S., Stefanoni, A., Nardi, G., Albanesi, M., Bauer, H. F., Pracucci, E., Schön, M., Ratto, G. M., Boeckers, T. M., et al. (2023) · Figshare · doi:10.6084/m9.figshare.23819835
Fonteneau, M., Terrier, C., Bolot, F., Pantouli, F., Brugoux, A., Malhaire, F., Wagnon, I. M., Borràs‐Tudurí, R., Rossolillo, P., McCort‐Tranchepain, I., et al. (2026) · Pharmacological Research · doi:10.64898/2026.01.12.699042
Involvement of mGluR5/Homer crosstalk disruption in the pathophysiology of Fragile X Syndrome
Aloisi, E. (2015) · theses.fr (ABES) · doi:10.70675/e628d840zb6adz4e63z9d1fz71559b23fe24
Regulation of the protein synthesis machinery in the striatum
Biever, A. (2016) · theses.fr (ABES) · doi:10.70675/d51e3b2cz4ba2z4930z8686z2d89c7f3949d
Chiesa, M. (2018) · theses.fr (ABES) · doi:10.70675/6ef32b4fzb74az4b06zb8edz92268c28d542
Age-dependent reorganization of behavioral and striatal function in Cntnap2 knockout mice
Thabault, M., Fernandes‐Gomes, C., Alcaraz, C., Balbous, A., Fernagut, P., & Galvan, L. (2026) · Neurobiology of Disease · doi:10.1016/j.nbd.2026.107558
Giovenzana, M., Nicosia, N., Spinosa, S., Musazzi, L., & Mingardi, J. (2026) · Pharmacological Research · doi:10.1016/j.phrs.2026.108366
Wagner, V. A., Maples, S., Thapa, R., Wimberly, J., Pettijohn, E., Varallo, A., Rais, M., Sutley-Koury, S. N., Hickmott, P., & Ethell, I. M. (2026) · Journal of Neurochemistry · doi:10.1111/jnc.70541
Paluszkiewicz, S. M. (2011) · DigitalGeorgetown (Georgetown University Library)
Metadata
- Authors
- Centonze, D., Rossi, S., Mercaldo, V., Napoli, I., Ciotti, M. T., De Chiara, V., Musella, A., Prosperetti, C., Calabresi, P., Bernardi, G., & Bagni, C.
- Affiliations
- University of Rome Tor Vergata (IT)
- University of Perugia (IT)
- ORCID
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2008-05
- Volume
- 63
- Issue
- 10
- Pages
- 963-973
- ISSN
- 0006-3223 (ISSN-L)
- OpenAlex
- W2012460847
- Cited by
- 171
- References
- 68
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 4 · 2023: 10 · 2022: 6 · 2021: 5 · 2020: 11 · 2019: 7 · 2018: 10 · 2017: 8 · 2016: 9 · 2015: 7 · 2014: 15 · 2013: 11 · 2012: 15
- FWCI
- 4.96
- Type
- journal article
- Language
- en
- Open access
- green
- lirias.kuleuven.be
- Licence
- Locations
- Biological Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Lirias (KU Leuven) (submittedVersion, other-oa)
- Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion)
- Funders
- Ministero della Salute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- fragile X syndrome, FMRP, BC1 RNA, striatum, GABAergic neurotransmission, inhibitory postsynaptic currents, miniature IPSCs, paired-pulse ratio, Fmr1 knockout mice, intellectual disability, synaptic plasticity
- MeSH terms
- Animals, Cerebral Cortex, Corpus Striatum, Disease Models, Animal, Electric Stimulation, Fragile X Syndrome, gamma-Aminobutyric Acid, Gene Expression Regulation, Mice, Inbred C57BL, Neural Inhibition, Synaptic Transmission, Phalloidine, Mice, Knockout, Patch-Clamp Techniques, Ribonucleoproteins, Small Cytoplasmic, RNA, Untranslated, Vesicular Inhibitory Amino Acid Transport Proteins, Mice, Fragile X Messenger Ribonucleoprotein 1, RNA, Long Noncoding, In Vitro Techniques
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
