Fragile X Syndrome Protein Linked to Breast Cancer Progression

Dr. Claudia Bagni’s team discovered that FMRP can act as a master switch in aggressive breast cancer, controlling proteins that drive invasion and metastasis.

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Fragile X Researcher, Cara Westmark, PhD

Ab-Mediated Translation in Fragile X Syndrome

This work found amyloid precursor protein (APP) overexpression and increased β-amyloid in Fragile X mice, implicating Alzheimer-related pathways in FXS pathology.

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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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Genetic and Pharmacologic Manipulation of PI3K Activity in FXS: Assessing Potential Therapeutic Value

Targeting the PI3K/mTOR cascade — specifically p110β — in Fragile X mice reversed neural and behavioral dysfunctions, validating it as a treatment pathway.

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Andreas Frick, PhD

Inherited Channelopathies in Cortical Circuits of Fmr1 KO Mice

Researchers found that Fragile X brain circuits show faulty ion channel activity (channelopathies). Fixing these channels may restore normal brain signalling.

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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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Altered Dendritic Synthesis of Postsynaptic Scaffold Protein Shank1 in Fragile X Syndrome

Loss of FMRP leads to excess synthesis of the scaffold protein Shank1 at dendrites. Elevated Shank1 may impair synaptic pruning and drive Fragile X spine pathology.

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Leonard Kaczmarek, PhD

The Slack Potassium Ion channel is a Therapeutic Target for Fragile X

With $282,000 in funding from FRAXA Research Foundation, Dr. Leonard Kaczmarek and colleagues explored association of Slack channels with the Fragile X protein (FMRP).

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Composition and Localization of Dendritic mRNAs in Fragile X Syndrome

With an $80,000 FRAXA grant, Drs. Smith and Wang developed a system to visualize proteins and mRNAs in Fragile X neurons, revealing how regulation goes awry.

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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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James Malter, at University of Wisconsin-Madison, FRAXA research grant

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

With FRAXA funding, Drs. James Malter and Cara Westmark studied how APP and its metabolite may drive excess protein synthesis in Fragile X, aiming to restore balance.

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FMRP-MAP1b RNA Interactions in Fragile X Syndrome

FRAXA-funded research by Dr. Mihaela Mihailescu at Duquesne University revealed insights into FMRP and RNA structure in Fragile X. Results were published.

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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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Yong Zhang, PhD, at Chinese Academy of Sciences, FRAXA research grant

Defining Functional Domains of FMRP and Uncovering its Partners via Large Scale Mutagenesis in Drosophila

With $80K from FRAXA, Dr. Yong Zhang at the Chinese Academy of Sciences identified genes that suppress Fragile X and explored FMRP function.

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Protein Synthesis in Interneurons in Fragile X Mice

A $100K FRAXA grant helped Dr. Oswald Steward at the University of California study protein synthesis in Fragile X mouse interneurons.

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Splicing Variations of the Fragile X Gene

An $80K FRAXA grant helped Dr. David Morris at the University of Washington explore FMRP isoform variation and brain expression.

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Angela Giangrande, PhD, Universite Louis Pasteur, FRAXA research grant

Drosophila CYFIP, a Molecular Link Between Actin Cytoskeleton Remodeling and Fragile X

With $130K from FRAXA, Dr. Angela Giangrande at Université Louis Pasteur studied dendrite, mRNA, and cytoskeleton interactions in fruit flies.

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Fen-Biao Gao, PhD, at University of California at San Fransico, FRAXA research award

Genetic and Behavioral Analyses of the dFMR1 Pathway in Drosophila Peripheral Nervous System

FRAXA’s $160K grant supported Dr. Fen-Biao Gao’s UC team in exploring the connection between mRNA and FMRP.

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Justin Fallon, PhD, Brown University, FRAXA research grant

Transcriptional Regulation of the Fragile X Gene

FRAXA’s $60K grant supported Dr. Justin Fallon’s Brown team in mapping Fragile X granules and uncovering FMRP’s presynaptic role.

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Composition and Dynamics of FMRP-Containing RNP Complexes

A $30K FRAXA grant helped Dr. Barbara Bardoni at INSERM, France, explore the biochemistry and function of the Fragile X protein.

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Thomas Tuschl, PhD, at Rockefeller University, FRAXA research grant

Role of MicroRNAs in Fragile X Syndrome

A $70K FRAXA grant helped Drs. Thomas Tuschl and Neil Renwick study FMRP–miRNA links to identify better treatment targets for Fragile X.

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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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FRAXA Funded Research

Current Research Grants (37)