Dysregulation and restoration of translational homeostasis in fragile X syndrome

Human MicroRNA Targets

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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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Correction of Fragile X Syndrome in Mice

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The Scanning Mechanism of Eukaryotic Translation Initiation

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Regulation of Synaptic Structure and Function by FMRP-Associated MicroRNAs miR-125b and miR-132

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FMRP targets distinct mRNA sequence elements to regulate protein expression

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The Fragile X Syndrome Protein FMRP Associates with BC1 RNA and Regulates the Translation of Specific mRNAs at Synapses

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A marker X chromosome.

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The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP

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Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway

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Dysregulation of mTOR signaling in fragile X syndrome

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Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective

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Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP

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The translation of translational control by FMRP: therapeutic targets for FXS

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Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

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A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE

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The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif

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Dynamic Translational and Proteasomal Regulation of Fragile X Mental Retardation Protein Controls mGluR-Dependent Long-Term Depression

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Phosphorylation of the Cap-Binding Protein Eukaryotic Translation Initiation Factor 4E by Protein Kinase Mnk1 In Vivo

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Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model

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Dysregulated Metabotropic Glutamate Receptor-Dependent Translation of AMPA Receptor and Postsynaptic Density-95 mRNAs at Synapses in a Mouse Model of Fragile X Syndrome

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The HMG-CoA Reductase Inhibitor Lovastatin Reverses the Learning and Attention Deficits in a Mouse Model of Neurofibromatosis Type 1

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Hypersensitivity to mGluR5 and ERK1/2 Leads to Excessive Protein Synthesis in the Hippocampus of a Mouse Model of Fragile X Syndrome

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Functional characterization of IRESes by an inhibitor of the RNA helicase eIF4A

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The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)

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Reversible Inhibition of PSD-95 mRNA Translation by miR-125a, FMRP Phosphorylation, and mGluR Signaling

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A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability

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Translational Suppression by Trinucleotide Repeat Expansion at <i>FMR1</i>

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A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

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FMRP regulates neurotransmitter release and synaptic information transmission by modulating action potential duration via BK channels

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RNA and microRNAs in fragile X mental retardation

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Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial

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Phosphorylation influences the translation state of FMRP-associated polyribosomes

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CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

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Genetic Removal of p70 S6 Kinase 1 Corrects Molecular, Synaptic, and Behavioral Phenotypes in Fragile X Syndrome Mice

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Epigenetic Characterization of the FMR1 Gene and Aberrant Neurodevelopment in Human Induced Pluripotent Stem Cell Models of Fragile X Syndrome

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A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome

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CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation

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A Mechanism for Translationally Coupled mRNA Turnover

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Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes

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Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome

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Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells

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Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack

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Rescue of fragile X syndrome phenotypes in <i>Fmr1</i> KO mice by the small-molecule PAK inhibitor FRAX486

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Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila

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Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome

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G-quadruplex RNA structure as a signal for neurite mRNA targeting

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Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABA _B Receptors with Arbaclofen

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Targeting the endocannabinoid system in the treatment of fragile X syndrome

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Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome

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Fragile X Mental Retardation Protein Regulates Translation by Binding Directly to the Ribosome

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The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes

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Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome

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FMRP Phosphorylation Reveals an Immediate-Early Signaling Pathway Triggered by Group I mGluR and Mediated by PP2A

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Cytoplasmic Polyadenylation Element Binding Proteins in Development, Health, and Disease

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Fragile X mental retardation protein is necessary for neurotransmitter-activated protein translation at synapses

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Pharmacogenetic inhibition of eIF4E-dependent Mmp9 mRNA translation reverses fragile X syndrome-like phenotypes

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The Unstable Repeats—Three Evolving Faces of Neurological Disease

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Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome

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Prolonged Epileptiform Discharges Induced by Altered Group I Metabotropic Glutamate Receptor-Mediated Synaptic Responses in Hippocampal Slices of a Fragile X Mouse Model

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Biochemical evidence for the association of fragile X mental retardation protein with brain polyribosomal ribonucleoparticles

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Quantitative proteomic analysis of primary neurons reveals diverse changes in synaptic protein content in fmr1 knockout mice

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iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth

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Fragile X mental retardation protein regulates protein expression and mRNA translation of the potassium channel Kv4.2

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Inhibition of GSK3 improves hippocampus-dependent learning and rescues neurogenesis in a mouse model of fragile X syndrome

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Protein synthesis levels are increased in a subset of individuals with fragile X syndrome

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Identification of FMR1-regulated molecular networks in human neurodevelopmentPreprint

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RNA Modifications and RNA Metabolism in Neurological Disease Pathogenesis

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Delayed maturation of fast-spiking interneurons is rectified by activation of the TrkB receptor in the mouse model of fragile X syndrome.

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Shifts in Ribosome Engagement Impact Key Gene Sets in Neurodevelopment and Ubiquitination in Rett Syndrome

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Input-Output Relationship of CA1 Pyramidal Neurons Reveals Intact Homeostatic Mechanisms in a Mouse Model of Fragile X Syndrome

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β-Arrestin2 Couples Metabotropic Glutamate Receptor 5 to Neuronal Protein Synthesis and Is a Potential Target to Treat Fragile X

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FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation

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Loss of the fragile X mental retardation protein causes aberrant differentiation in human neural progenitor cells

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Loss of the fragile X syndrome protein FMRP results in misregulation of nonsense-mediated mRNA decay

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FMRP links optimal codons to mRNA stability in neurons

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Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome

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LIM-Kinases in Synaptic Plasticity, Memory, and Brain Diseases

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The translational regulator FMRP controls lipid and glucose metabolism in mice and humans

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Novel fragile X syndrome 2D and 3D brain models based on human isogenic FMRP-KO iPSCs.

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Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome

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Functional changes of AMPA responses in human induced pluripotent stem cell–derived neural progenitors in fragile X syndrome

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Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis.

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Regulation of RNA granules by FMRP and implications for neurological diseases

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Targeting Translation Control with p70 S6 Kinase 1 Inhibitors to Reverse Phenotypes in Fragile X Syndrome Mice

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The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators

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Absence of the Fragile X Mental Retardation Protein results in defects of RNA editing of neuronal mRNAs in mouse

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Reducing histone acetylation rescues cognitive deficits in a mouse model of Fragile X syndrome

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Treating a novel plasticity defect rescues episodic memory in Fragile X model mice

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Hyperactive locomotion in a Drosophila model is a functional readout for the synaptic abnormalities underlying fragile X syndrome

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Novel FMRP interaction networks linked to cellular stress

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Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer

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Dysregulated Translation in Neurodevelopmental Disorders: An Overview of Autism‐Risk Genes Involved in Translation

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Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs

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The epitranscriptome in stem cell biology and neural development

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Mechanisms regulating dendritic arbor patterning

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Translational regulation of protrusion-localized RNAs involves silencing and clustering after transport

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mGluR5 Negative Modulators for Fragile X: Treatment Resistance and Persistence

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Enhanced Akt/GSK‐3β/CREB signaling mediates the anti‐inflammatory actions of mGluR5 positive allosteric modulators in microglia and following traumatic brain injury in male mice

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Neuroligin 1, 2, and 3 Regulation at the Synapse: FMRP-Dependent Translation and Activity-Induced Proteolytic Cleavage

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Homeostatic regulation of neuronal function: importance of degeneracy and pleiotropy

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Functional Magnetic Resonance Imaging in Awake Transgenic Fragile X Rats: Evidence of Dysregulation in Reward Processing in the Mesolimbic/Habenular Neural Circuit

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The RNA-binding protein, ZC3H14, is required for proper poly(A) tail length control, expression of synaptic proteins, and brain function in mice

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Rapid, experience-dependent translation of neurogranin enables memory encoding

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Deletion of Fmr1 in Parvalbumin Inhibitory Neurons Leads to Dysregulated Translation and Selective Behavioral Deficits Associated with Fragile X Syndrome

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Adaptive control of synaptic plasticity integrates micro- and macroscopic network function

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Enzyme Complexes Important for the Glutamate–Glutamine Cycle

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Isoform-selective phosphoinositide 3-kinase inhibition ameliorates a broad range of fragile X syndrome-associated deficits in a mouse model

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Implications of mRNA translation dysregulation for neurological disorders

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Spatially and temporally regulating translation via mRNA ‐binding proteins in cellular and neuronal function

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Is (R)-ketamine a potential therapeutic agent for treatment-resistant depression with less detrimental side effects? A review of molecular mechanisms underlying ketamine and its enantiomers

Scotton, E., Antqueviezc, B., Vasconcelos, M., Dalpiaz, G., Géa, L. P., Goularte, J. F., Colombo, R., & Rosa, A. R. (2022) · Biochemical Pharmacology · doi:10.1016/j.bcp.2022.114963 · Cited by 36 · see citing works

Cylindromatosis drives synapse pruning and weakening by promoting macroautophagy through Akt-mTOR signaling

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CPEB and translational control by cytoplasmic polyadenylation: impact on synaptic plasticity, learning, and memory

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FMRP Interacts with C/D Box snoRNA in the Nucleus and Regulates Ribosomal RNA Methylation

D’Souza, M. N., Gowda, N. K. C., Tiwari, V., Babu, R. O., Anand, P., Dastidar, S. G., Singh, R., James, O. G., Selvaraj, B. T., Pal, R., et al. (2018) · iScience · doi:10.1016/j.isci.2018.11.007 · Cited by 34 · see citing works

FMRP modulates the Wnt signalling pathway in glioblastoma

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The Conserved, Disease-Associated RNA Binding Protein dNab2 Interacts with the Fragile X Protein Ortholog in Drosophila Neurons

Bienkowski, R. S., Banerjee, A., Rounds, J. C., Rha, J., Omotade, O. F., Groß, C., Morris, K. J., Leung, S. W., Pak, C., Jones, S. K., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.07.038 · Cited by 33 · see citing works

Moving messages in the developing brain—emerging roles for mRNA transport and local translation in neural stem cells

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Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment

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Upregulated NMDAR-enhanced GABAergic transmission underlies autistic-like deficits in Htr3a knockout mice

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Excessive proteostasis contributes to pathology in fragile X syndrome

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Astrocytes mediate cell non-autonomous correction of aberrant firing in human FXS neurons.

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FMRP regulates presynaptic localization of neuronal voltage gated calcium channels

Ferron, L., Novazzi, C. G., Pilch, K. S., Moreno, C., Ramgoolam, K., & DOLPHIN, A. C. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104779 · Cited by 31 · see citing works

Overlapping Molecular Pathways Leading to Autism Spectrum Disorders, Fragile X Syndrome, and Targeted Treatments

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Altered expression of the FMR1 splicing variants landscape in premutation carriers

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Aberrant RNA translation in fragile X syndrome: From FMRP mechanisms to emerging therapeutic strategies

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Fragile X Syndrome: from molecular pathology to therapy

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Balancing translation and Rac1 signaling

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Genetic and acute CPEB1 depletion ameliorate fragile X pathophysiology

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m⁶A-dependent FMRP control of DGKκ translation underlies core Fragile X phenotypesPreprint

Cakil, O., Zámbó, B., Maroilley, T., Drouot, N., Petrova, A., Négroni, L., Gógl, G., Piton, A., & Moine, H. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.01.20.700356