Kimberly Huber, Ph.D., FRAXA Investigator

Targeting mGluR-LTD to Treat Fragile X Syndrome

With FRAXA support, Dr. Kimberly Huber uncovered how mGluR signaling contributes to Fragile X, laying the foundation for major clinical advances.

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Preclinical Evaluation of Serotonin Receptor Agonists as Novel Pharmacological Tools in Fragile X Syndrome

With FRAXA funding the team found that activating 5-HT7 receptors reversed excess mGluR-LTD in Fragile X mice, pointing to a new route to fix synapses.

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Small Rho GTPases, a Potential Therapeutic Target for Fragile X Syndrome

Dr. MariVi Tejada from the University of Houston tested several potential therapeutic compounds in an attempt to rescue function in the mouse model of Fragile X.

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Synaptic Actin Signaling Pathways in Fragile X

Fragile X neurons show excess or mis-timed actin remodeling at synapses caused by FMRP loss. Modulating actin regulators rescued connectivity in mice.

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Compound that Inhibits mGluR5 Corrects Signs of Fragile X in Adult Mice

A Roche and MIT study published in Neuron finds that an mGlu5 inhibitor, CTEP, can reverse many Fragile X symptoms in adult mice.

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Role of JNK in FMRP Regulated Translation in Fragile X Syndrome

JNK kinase is abnormally active in Fragile X model mice and directly regulates mGluR-dependent translation of FMRP targets, pointing to JNK as a therapeutic target.

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Role of Excessive Protein Synthesis in the Ontogeny of FXS

Excessive neuronal protein synthesis is not just a symptom but appears to cause early synaptic wiring defects in Fragile X — highlighting translation control as a key target.

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Manipulating Basal and mGluR-Stimulated cAMP Level in FXS Model Mice

Fragile X mice show reduced basal cAMP and exaggerated mGluR-LTD; boosting cAMP or blocking specific adenylyl cyclases rescues synaptic and behavioral defects.

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The Role of FMRP and Small, Non-Coding RNAs in Translation

Drs. Henri Tiedge and Jun Zhong investigated how BC1 RNA could restore balance in Fragile X brains, pointing toward RNA-targeted treatments.

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Sean McBride, PhD, Albert Einstein College of Medicine, FRAZA research grant

Developing Fragile X Treatments in Fruit Flies and Mice

FRAXA’s $380K grant supported Drs. McBride, Jongens, and Choi in validating Fragile X treatments in mice to prepare for trials. Findings published.

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Imaging Synaptic Structure and Function in Fragile X Mice

With $150K from FRAXA, Dr. Carlos Portera-Cailliau studied Fragile X mouse brains to examine dendrite structure and mGluR5 treatment effects.

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Iryna Ethell, PhD, at University of California

Role of Matrix Metalloproteinases (MMP-9) in Fragile X

With a $220,000 FRAXA grant, Dr. Iryna Ethell’s team at UC Riverside uncovered MMP-9’s role in Fragile X—leading to a major treatment strategy using minocycline.

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Basic Mechanisms of Disease and Potential Therapeutic Strategies

Dr. Stephen Warren’s FRAXA-funded research at Emory led to the Fragile X gene discovery and new breakthroughs using stem cells and model systems.

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Role of FMRP in the Regulation of Synaptic Plasticity

FRAXA’s $1M support helped Drs. Greenough and Weiler reveal FMRP’s role at synapses, shaping today’s understanding of Fragile X syndrome.

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Glutamate Metabolism in Fragile X Mouse Brain

Dr. Mary McKenna’s FRAXA-funded study at the University of Maryland examined how mGluR activity impacts key brain pathways linked to Fragile X.

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Targeting the Role of Group 1 Metabotropic Glutamate Receptors

Dr. Huibert Mansvelder’s FRAXA-funded study at the University of Amsterdam examined receptor responses to drugs, revealing new therapeutic insights.

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Jay Gibson, PhD, at University of Texas at Southwestern, FRAXA research grant

Decreased Excitatory Drive onto Parvalbumin-Positive Neocortical Inhibitory Neurons in a Mouse Model of Fragile X Syndrome

Drs. Jay Gibson and Kimberly Huber used FRAXA funding to uncover whether disrupted brain inhibition drives Fragile X, paving the way for targeted therapies.

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Leonard Kaczmarek, PhD

Electrophysiological, Biochemical and Immunohistochemical Characterization of Kv3.1 in Auditory Brainstem Nuclei in the Fragile X Knockout Mouse

Dr. Leonard Kaczmarek’s Yale lab revealed how Fragile X disrupts potassium channels, impairing auditory processing and fueling sensory overload.

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Walter Kaufman, MD, PhD, at Johns Hopkins University, FRAXA research grant

Metabotropic Glutamate Receptor Function in Fragile X Knockout Mice

FRAXA’s $143K grant supported Drs. Kaufmann, Huganir, Worley, and Lieberman at Johns Hopkins in studying mGluR dynamics in Fragile X mice.

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Catherine Choi, Drexel University, FRAXA research grant

Pharmacologic Interventions in the Fmr1 KO Mouse

With $48.6K from FRAXA, Dr. Catherine Choi at Drexel studied Fragile X knockout mice to identify potential treatment targets.

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Vladimir Gelfand, PhD, at Northwestern University, FRAXA research grant

Transport, Anchoring and Translation of FMRP-Associated mRNAs

FRAXA’s $40K grant supported Dr. Vladimir Gelfand’s Northwestern team in exploring links between mGluR, mRNA, and FMRP.

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Linda Crnic, PhD, at University of Colorado, FRAXA research grant

Treatment of a Mouse Model of Fragile X Syndrome with MPEP

A $49K FRAXA grant helped Dr. Linda Crnic’s Colorado team study chronic MPEP use to ease Fragile X symptoms while preserving cognition.

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Synaptic Plasticity and Olfactory Learning in Fragile X

With $40K from FRAXA, Dr. John Larson’s UIC team used mice’s sense of smell to study memory, learning, and Fragile X–related brain function.

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FRAXA Funded Research

Current Research Grants (40)