2006-2010 Grants Archives

GABA-A Receptor in Fragile X Syndrome

November 24, 2021

Published results from Dr. Frank Kooy reveal how GABAA receptor changes may hold the key to treating Fragile X syndrome.

Defining Subcellular Specificity of Metabotropic Glutamate Receptor (mGluR5) Antagonists

September 22, 2017

This study showed that selectively targeting mGluR5 receptors in specific neuronal compartments can correct distinct Fragile X synaptic defects, improving precision therapy.

Mechanisms of Tolerance to Chronic mGluR5 Inhibition

September 19, 2017

FRAXA supported research showing mGluR5 antagonist tolerance develops quickly in Fragile X models, guiding new strategies to prevent or overcome it.

Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X

September 13, 2017

With a $35,000 grant from FRAXA, Dr. Peter Vanderklish at Scripps Research Institute, and colleagues, explored the basis of anxiety in Fragile X syndrome.

Development of a High-Content Synapse Assay to Screen Therapeutics for Fragile X Syndrome

September 8, 2017

This work established a high-content synaptic imaging platform for Fragile X cells to test many candidate drugs for their ability to repair synapse structure and function.

PIKE as a Central Regulator of Synaptic Dysfunction in Fragile X Syndrome

February 2, 2017

With $255,000 from FRAXA Research Foundation, Dr. Suzanne Zukin at Albert Einstein College of Medicine studied signalling pathways in Fragile X syndrome.

Fragile X Mutant Mouse Models

September 10, 2016

With $375,000 in grants from FRAXA, Dr. David Nelson developed an array of advanced mouse models of Fragile X. These models are available at Jackson Labs (JAX).

Abnormalities of Synaptic Plasticity in the Fragile X Amygdala

February 22, 2016

With FRAXA funding, Dr. Sumantra Chattarji at NCBS explored how Fragile X alters amygdala function. Results were published.

Dr. Tom Jongens and Dr. Sean McBride study Fragile X Fruit Flies

Fruit Flies to Model and Test Fragile X Treatments

September 13, 2015

Boosting cAMP signaling restores memory and fixes brain-signaling defects in Fragile X models, suggesting diabetes drugs like metformin may help.

Paul Lombroso, PhD, Yale University, FRAXA Investigator

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

February 26, 2015

STEP inhibition reversed behavioral and synaptic Fragile X deficits in mice (Neuropharmacology, 2018), highlighting STEP as a promising treatment target.

Glycogen Synthase Kinase-3 (GSK3), Lithium and Fragile X

September 12, 2013

Dr. Jope found that lithium (at usual therapeutic doses) and investigational GSK3 inhibitors can reverse a number of cognitive deficits in FMR1 knockout mice.

The mTOR Pathway in Fragile X Syndrome

September 6, 2013

FRAXA-funded research showed that blocking S6K1 in Fragile X mice improves social, behavioral, and physical symptoms.

Treatment of Fragile X Syndrome via Dopamine Enhancers and Glutamate Inhibitors

June 2, 2013

In Fragile X mice, low dopamine signaling and excessive glutamate activity were targeted with dual therapy: dopamine enhancers plus glutamate inhibitors.

Endocannabinoid Mediated Synaptic Plasticity in Fragile X Mice

June 2, 2013

FRAXA-funded studies found faulty endocannabinoid signaling in Fragile X brain circuits for reward and emotion, and boosting 2-AG restored normal function.

Kimberly Huber, Ph.D., FRAXA Investigator

Targeting mGluR-LTD to Treat Fragile X Syndrome

March 12, 2013

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

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

January 30, 2013

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.

A Developmental Switch Exists in the Effects of FMRP

September 19, 2012

Fragile X research found that FMRP’s role in synapse development changes with age—early on it builds synapses, later it removes them—via MEF2 signaling.

Synaptic Actin Signaling Pathways in Fragile X

September 11, 2012

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

A Metabolomic Drug Efficacy Index to Test Treatments in the Fragile X Mouse

September 1, 2012

This work revealed small-molecule metabolic changes in Fragile X brains and is using them to build a drug-efficacy index for screening therapies.

Inherited Channelopathies in Cortical Circuits of Fmr1 KO Mice

August 22, 2012

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

Serotonergic Rescue of Synaptic Plasticity in FMR1 Knockout Mice

January 31, 2012

Dr. Zhu examined how serotonin-targeting drugs such as Buspar and Abilify influence synaptic plasticity, including LTP and LTD.

Efficient Screening for Pharmaceutical Amelioration of FXS Behavioral Deficits in Drosophila

January 30, 2012

Using a fruit-fly Fragile X model, researchers screened many drugs quickly to find those that improve behavior, speeding up potential treatment testing.

Channelopathies: Altered Ion Channels in Fragile X Syndrome

September 15, 2011

Ion channel defects (“channelopathies”) in Fragile X disrupt neuron firing and network balance. This study maps these channel changes to guide targeted treatments.

Role of Excessive Protein Synthesis in the Ontogeny of FXS

May 8, 2011

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.

GABA-A Receptor in Fragile X Syndrome

Defining Subcellular Specificity of Metabotropic Glutamate Receptor (mGluR5) Antagonists

Mechanisms of Tolerance to Chronic mGluR5 Inhibition

Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X

Development of a High-Content Synapse Assay to Screen Therapeutics for Fragile X Syndrome

PIKE as a Central Regulator of Synaptic Dysfunction in Fragile X Syndrome

Fragile X Mutant Mouse Models

Abnormalities of Synaptic Plasticity in the Fragile X Amygdala

Fruit Flies to Model and Test Fragile X Treatments

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

Glycogen Synthase Kinase-3 (GSK3), Lithium and Fragile X

The mTOR Pathway in Fragile X Syndrome

Treatment of Fragile X Syndrome via Dopamine Enhancers and Glutamate Inhibitors

Endocannabinoid Mediated Synaptic Plasticity in Fragile X Mice

Targeting mGluR-LTD to Treat Fragile X Syndrome

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

A Developmental Switch Exists in the Effects of FMRP

Synaptic Actin Signaling Pathways in Fragile X

A Metabolomic Drug Efficacy Index to Test Treatments in the Fragile X Mouse

Inherited Channelopathies in Cortical Circuits of Fmr1 KO Mice

Serotonergic Rescue of Synaptic Plasticity in FMR1 Knockout Mice

Efficient Screening for Pharmaceutical Amelioration of FXS Behavioral Deficits in Drosophila

Channelopathies: Altered Ion Channels in Fragile X Syndrome

Role of Excessive Protein Synthesis in the Ontogeny of FXS

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