Dysregulation and restoration of translational homeostasis in fragile X syndrome

Human MicroRNA Targets

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FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

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The mGluR theory of fragile X mental retardation

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mTOR signaling: At the crossroads of plasticity, memory and disease

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CLIP Identifies Nova-Regulated RNA Networks in the Brain

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Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome

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Correction of Fragile X Syndrome in Mice

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Impaired GABA neural circuits are critical for fragile X syndrome.

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Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats

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RNA binding proteins in senescence: A potential common linker for age-related diseases?

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Towards Kinase Inhibitor Therapies for Fragile X Syndrome: Tweaking Twists in the Autism Spectrum Kinase Signaling Network

D’Incal, C., Broos, J., Torfs, T., Kooy, R. F., & Vanden Berghe, W. (2022) · Cells · doi:10.3390/cells11081325 · Cited by 29

Local Translation Across Neural Development: A Focus on Radial Glial Cells, Axons, and Synaptogenesis

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Mouse models of fragile X-related disorders

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FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability

Clifton, N. E., Thomas, K. L., Wilkinson, L. S., Hall, J., & Trent, S. (2020) · Complex Psychiatry · doi:10.1159/000506858 · Cited by 28

UPF1—From mRNA Degradation to Human Disorders

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Defective phosphoinositide metabolism in autism

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Neurotrophic Factors in Mouse Models of Autism Spectrum Disorder: Focus on BDNF and IGF-1

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Withdrawal From Cocaine Self-administration Alters the Regulation of Protein Translation in the Nucleus Accumbens

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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

Cell-type-specific disruption of cortico-striatal circuitry drives repetitive patterns of behavior in fragile X syndrome model mice

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Fragile X syndrome: Are signaling lipids the missing culprits?

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Loss of fragile X mental retardation protein precedes Lewy pathology in Parkinson’s disease

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Interplay between FMRP and lncRNA TUG1 regulates axonal development through mediating SnoN–Ccd1 pathway

Guo, Y., Chen, X., Xing, R., Wang, M., Zhu, X., & Guo, W. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx417 · Cited by 23

Fragile X mental retardation protein regulates accumulation of the active zone protein Munc18-1 in presynapses via local translation in axons during synaptogenesis

Parvin, S., Takeda, R., Sugiura, Y., Neyazaki, M., Nogi, T., & Sasaki, Y. (2018) · Neuroscience Research · doi:10.1016/j.neures.2018.09.013 · Cited by 22

Understanding the Role of the BAI Subfamily of Adhesion G Protein-Coupled Receptors (GPCRs) in Pathological and Physiological Conditions

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Disruption of GpI mGluR-Dependent Cav2.3 Translation in a Mouse Model of Fragile X Syndrome

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Genetic and Environmental Contributions to Autism Spectrum Disorder Through Mechanistic Target of Rapamycin

Sato, A., & Ikeda, K. (2021) · Biological Psychiatry Global Open Science · doi:10.1016/j.bpsgos.2021.08.005 · Cited by 22

Voltage‐gated calcium channels – from basic mechanisms to disease

Striessnig, J. (2016) · The Journal of Physiology · doi:10.1113/jp272619 · Cited by 23

Pharmacological Reactivation of the Silenced FMR1 Gene as a Targeted Therapeutic Approach for Fragile X Syndrome

Kumari, D., Gazy, I., & Usdin, K. (2019) · Brain Sciences · doi:10.3390/brainsci9020039 · Cited by 21

Early environmental enrichment for autism spectrum disorder Fmr1 mice models has positive behavioral and molecular effects

Chen, Y.-S., Zhang, S., Yue, C., Xiang, P., Li, J., Wei, Z., Xu, L., & Zeng, Y. (2022) · Experimental Neurology · doi:10.1016/j.expneurol.2022.114033 · Cited by 21

Mitochondrial protein synthesis and the bioenergetic cost of neurodevelopment

Bülow, P., Patgiri, A., & Faúndez, V. (2022) · iScience · doi:10.1016/j.isci.2022.104920 · Cited by 18

Cannabidiol and positive effects on object recognition memory in an in vivo model of Fragile X Syndrome: Obligatory role of hippocampal GPR55 receptors

Manduca, A., Buzzelli, V., Rava, A., Feo, A., Carbone, E., Schiavi, S., Peruzzi, B., Doria, V., Pezzullo, M., Pasquadibisceglie, A., et al. (2024) · Pharmacological Research · doi:10.1016/j.phrs.2024.107176 · Cited by 20

Mechanisms Driving the Emergence of Neuronal Hyperexcitability in Fragile X Syndrome

Bülow, P., Segal, M., & Bassell, G. J. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23116315 · Cited by 22

CPEB3-dependent increase in GluA2 subunits impairs excitatory transmission onto inhibitory interneurons in a mouse model of fragile X

Hwang, J.-Y., Monday, H. R., Yan, J., Gompers, A., Buxbaum, A. R., Sawicka, K., Singer, R. H., Castillo, P. E., & Zukin, R. S. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.110853 · Cited by 19

A Genome-Wide Screen for Dendritically Localized RNAs Identifies Genes Required for Dendrite Morphogenesis

Misra, M., Edmund, H., Ennis, D., Schlueter, M. A., Marot, J., Tambasco, J., Barlow, I. L., Sigurbjörnsdóttir, S., Mathew, R., Vallés, A. M., et al. (2016) · G3 Genes Genomes Genetics · doi:10.1534/g3.116.030353 · Cited by 19

Regulation of Adult Neurogenesis by the Fragile X Family of RNA Binding Proteins

Patzlaff, N. E., Shen, M., & Zhao, X. (2017) · Brain Plasticity · doi:10.3233/bpl-170061 · Cited by 18

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

RNA N6-Methyladenosine Modifications and Its Roles in Alzheimer’s Disease

Zhang, R., Zhang, Y., Guo, F., Li, S., & Cui, H. (2022) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2022.820378 · Cited by 19

Protein Binding to Cis-Motifs in mRNAs Coding Sequence Is Common and Regulates Transcript Stability and the Rate of Translation

Grzybowska, E. A., & Wakuła, M. (2021) · Cells · doi:10.3390/cells10112910 · Cited by 17

Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex

Winden, K. D., Pham, T. T., Teaney, N. A., Ruíz, J. P., Chen, R., Chen, C.-D., & Şahin, M. (2023) · Cell Reports · doi:10.1016/j.celrep.2023.112838 · Cited by 18

The Intracellular Cleavage Product of the NG2 Proteoglycan Modulates Translation and Cell-Cycle Kinetics via Effects on mTORC1/FMRP Signaling

Nayak, T., Trotter, J., & Sakry, D. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00231 · Cited by 18

Individual Copy Number of Ribosomal Genes as a Factor of Mental Retardation and Autism Risk and Severity

Porokhovnik, L. N. (2019) · Cells · doi:10.3390/cells8101151 · Cited by 17

Rapid reversal of translational silencing: Emerging role of microRNA degradation pathways in neuronal plasticity

Fu, X., Shah, A. P., & Baraban, J. M. (2016) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2016.04.006 · Cited by 15

Mechanisms regulating input-output function and plasticity of neurons in the absence of FMRP

Booker, S. A., & Kind, P. C. (2021) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2021.06.025 · Cited by 16

RNA-binding protein dysfunction in neurodegeneration

Popper, B., Scheidt, T., & Schieweck, R. (2021) · Essays in Biochemistry · doi:10.1042/ebc20210024 · Cited by 15

Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction

Zhang, X.-Y., Qi, J., Shen, Y., Liu, X., Liu, A., Zhou, Z., Han, J., & Zhang, Z. C. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx010 · Cited by 17

Do group I metabotropic glutamate receptors mediate LTD?

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The integrated stress response in the brain: cell type-specific functions in health and neurological disorders

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Semaphorin-3A Promotes Degradation of Fragile X Mental Retardation Protein in Growth Cones via the Ubiquitin-Proteasome Pathway

Takabatake, M., Goshima, Y., & Sasaki, Y. (2020) · Frontiers in Neural Circuits · doi:10.3389/fncir.2020.00005 · Cited by 14

Evolution, immunity and the emergence of brain superautoantigens

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Cerebellum neuropathology and motor skill deficits in fragile X syndrome

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Of local translation control and lipid signaling in neurons

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Co-Translational Folding: A Novel Modulator of Local Protein Expression in Mammalian Neurons?

Schieweck, R., Popper, B., & Kiebler, M. A. (2016) · Trends in Genetics · doi:10.1016/j.tig.2016.10.004 · Cited by 13

Control of CNS Functions by RNA-Binding Proteins in Neurological Diseases

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More dynamic, more quantitative, unexpectedly intricate: Advanced understanding on synaptic RNA localization in learning and memory

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Programming social behavior by the maternal fragile X protein

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Dysregulated Ca2+-Permeable AMPA Receptor Signaling in Neural Progenitors Modeling Fragile X Syndrome

Danesi, C., KEINÄNEN, K. P., & Castrén, M. L. (2019) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2019.00002 · Cited by 12

The molecular basis of the Fragile X syndrome

Smail, H. O. (2023) · Journal of Experimental and Molecular Biology · doi:10.47743/jemb-2023-80 · Cited by 13

Diverse roles of biomolecular condensation in eukaryotic translational regulation

Zhang, Y., Kang, J.-Y., Liu, M., & Huang, Y. (2023) · RNA Biology · doi:10.1080/15476286.2023.2275108 · Cited by 11

Modelling Protein Synthesis as A Biomarker in Fragile X Syndrome Patient-Derived Cells

Pal, R., & Bhattacharya, A. (2019) · Brain Sciences · doi:10.3390/brainsci9030059 · Cited by 15

Activity-Dependent Mitochondrial Plasticity and Mitoproteome are Dysregulated in Fragile X Syndrome

Bülow, P., Zlatic, S. A., Wenner, P., Bassell, G. J., & Faúndez, V. (2020) · Molecular Brain · doi:10.1186/s13041-021-00783-w · Cited by 13

Dynamic duo – FMRP and TDP-43: Regulating common targets, causing different diseases

Ferro, D., Yao, S., & Zarnescu, D. C. (2018) · Brain Research · doi:10.1016/j.brainres.2018.04.034 · Cited by 14

Kinase pathway inhibition restores PSD95 induction in neurons lacking fragile X mental retardation protein

Yang, Y., Yang, G., Jiang, D., Lin, N., Kim, H. J., Jeon, N. L., Lau, A., Chen, L., & Lin, M. Z. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1812056116 · Cited by 10

The role of altered translation in intellectual disability and epilepsy

Malone, T. J., & Kaczmarek, L. K. (2022) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2022.102267 · Cited by 12

Endocannabinoid-Mediated Neuromodulation in the Olfactory Bulb: Functional and Therapeutic Significance

Bhatia‐Dey, N., & Heinbockel, T. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21082850 · Cited by 13

Mitochondrial Structure and Polarity in Dendrites and the Axon Initial Segment Are Regulated by Homeostatic Plasticity and Dysregulated in Fragile X Syndrome

Bülow, P., Wenner, P., Faúndez, V., & Bassell, G. J. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.702020 · Cited by 12

Oppositional poly(A) tail length regulation by FMRP and CPEB1

Shin, J., Paek, K. Y., Chikhaoui, L., Jung, S., Ponny, S. R., Suzuki, Y., Padmanabhan, K., & Richter, J. D. (2022) · RNA · doi:10.1261/rna.079050.121 · Cited by 10

Review on the role of hippocampus in autism spectrum disorder: recent insights into neuropathology, genetics, and emerging therapeutic strategies

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Shank3 modulates Rpl3 expression and protein synthesis via mGlu5: implications for Phelan McDermid syndrome

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FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

Fernández, E., Gennaro, E., Pirozzi, F., Baldo, C., Forzano, F., Turolla, L., Faravelli, F., Gastaldo, D., Coviello, D. A., Grasso, M., et al. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00442 · Cited by 10

Transcriptomics-Based Phenotypic Screening Supports Drug Discovery in Human Glioblastoma Cells

Shapovalov, V., Kopanitsa, L., Pruteanu, L.-L., Ladds, G., & Bailey, D. S. (2021) · Cancers · doi:10.3390/cancers13153780 · Cited by 10

FMRP phosphorylation and interactions with Cdh1 regulate association with dendritic RNA granules and MEF2-triggered synapse elimination

Wilkerson, J. R., Ifrim, M. F., Valdez‐Sinon, A. N., Hahn, P. A., Bowles, J. E., Molinaro, G., Janusz, A., Bassell, G. J., & Huber, K. M. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106136 · Cited by 11

Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis

Payne, J. M., Haebich, K. M., Mitchell, R. A., Bozaoglu, K., Giliberto, E., Lockhart, P. J., Maier, A., Velasco, S., Ball, G., North, K. N., et al. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02863-4 · Cited by 8

Neuronal Roles of the Bicaudal D Family of Motor Adaptors

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Reduced axonal caliber and structural changes in a rat model of Fragile X syndrome with a deletion of a K-Homology domain of Fmr1

Golden, C. E. M., Yee, Y., Wang, V. X., Harony‐Nicolas, H., Hof, P. R., Lerch, J. P., & Buxbaum, J. D. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-00943-x · Cited by 8

Altered Translational Control of Fragile X Mental Retardation Protein on Myelin Proteins in Neuropsychiatric Disorders

Jeon, S. J., Ryu, J. H., & Bahn, G. H. (2016) · Biomolecules & Therapeutics · doi:10.4062/biomolther.2016.042 · Cited by 8

Comprehensive Genome-Wide Approaches to Activity-Dependent Translational Control in Neurons

Choe, H. K., & Cho, J. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21051592 · Cited by 11

Joining the dots – protein‐ RNA interactions mediating local mRNA translation in neurons

Gallagher, C., & Ramos, A. (2018) · FEBS Letters · doi:10.1002/1873-3468.13121 · Cited by 8

The Fragile X Messenger Ribonucleoprotein 1 Regulates the Morphology and Maturation of Human and Rat Oligodendrocytes

Ramesh, V., Tsoukala, E., Kougianou, I., Kozić, Z., Burr, K., Viswanath, B., Hampton, D. W., Story, D., Reddy, B. K., Pal, R., et al. (2025) · Glia · doi:10.1002/glia.24680 · Cited by 7

The Difficult Path to the Discovery of Novel Treatments in Psychiatric Disorders

Gribkoff, V. K., & Kaczmarek, L. K. (2023) · Advances in neurobiology · doi:10.1007/978-3-031-21054-9_11 · Cited by 7

Neuronal potassium channel activity triggers initiation of mRNA translation through binding of translation regulators

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Explorations and perspectives on the neurobiological bases of autism spectrum disorder

Foxe, J. J., Molholm, S., Baudouin, S. J., & Wallace, M. T. (2018) · European Journal of Neuroscience · doi:10.1111/ejn.13902 · Cited by 7

Modulation of Neuronal Potassium Channels During Auditory Processing

Wu, J., & Kaczmarek, L. K. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.596478 · Cited by 7

Sustained correction of hippocampal neurogenic and cognitive deficits after a brief treatment by Nutlin-3 in a mouse model of fragile X syndrome

Javadi, S., Li, Y., Sheng, J., Zhao, L., Fu, Y., Wang, D., & Zhao, X. (2022) · BMC Medicine · doi:10.1186/s12916-022-02370-9 · Cited by 7

Posttranscriptional and translational control of neurogenesis

Alsina, F. C., & Silver, D. L. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-814405-3.00028-x · Cited by 6

The small GTPase Arf6 is dysregulated in a mouse model for fragile X syndrome

Briševac, D., Scholz, R., Du, D., Elagabani, M. N., Köhr, G., & Kornau, H. (2020) · Journal of Neurochemistry · doi:10.1111/jnc.15230 · Cited by 7

From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research

van der Lei, M. B., & Kooy, R. F. (2025) · Biomedicines · doi:10.3390/biomedicines13040805 · Cited by 6

FMRP regulation of aggrecan mRNA translation controls perineuronal net development

Spijker, H. M. V. ‘., & Richter, J. D. (2024) · Journal of Neurochemistry · doi:10.1111/jnc.16048 · Cited by 5

The Unified Theory of Neurodegeneration Pathogenesis Based on Axon Deamidation

Joseph, D. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26094143 · Cited by 6

Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals

Cencelli, G., Pacini, L., Luca, A. D., Messia, I., Gentile, A., Kang, Y., Nobile, V., Tabolacci, E., Jin, P., Farace, M. G., et al. (2023) · Cells · doi:10.3390/cells12050758 · Cited by 6

FMRP Long-Range Transport and Degradation Are Mediated by Dynlrb1 in Sensory Neurons

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Promiscuous or discriminating: Has the favored mRNA target of Fragile X Mental Retardation Protein been overlooked?

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Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability

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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

The cleavage of host cell proteins by HIV-1 protease.

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Translational Control Mechanisms in Synaptic Plasticity and Memory ☆

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