Research Results Archives • Page 4 of 4 • FRAXA Research Foundation

Dysruption of Endocannabinoid Mediated Synaptic Plasticity in the Nac of FMR1 Null Mice

June 10, 2013

This team was able to establish the endocannabinoid system as a therapeutic target for Fragile X syndrome. They also showed that the system can be targeted with pharmacology.

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.

Fragile X Researcher, Cara Westmark, PhD

Ab-Mediated Translation in Fragile X Syndrome

September 13, 2012

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

Reward Function in Fragile X Syndrome

September 2, 2012

Loss of FMRP disrupts dopamine-driven reward function—Fragile X mice show impaired cocaine sensitization and place preference, revealing new plasticity defects.

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

February 1, 2011

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

Correcting Fragile X Syndrome by Inhibiting the Synaptic RNA-Binding Protein CPEB1

January 30, 2011

The Richter lab found that CPEB1 knockdown in Fmr1 KO mice normalized excessive protein synthesis and improved synaptic and memory problems tied to Fragile X.

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

January 7, 2011

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).

Elizabeth Berry-Kravis, MD, PhD, Fragile X researcher

Pilot Clinical Trial of Lithium in Fragile X Shows Promising Results

November 14, 2010

With $65K from FRAXA, Dr. Berry-Kravis at Rush University ran a pilot lithium trial in 15 Fragile X patients. Results published.

Encouraging Results from First Trial of Minocycline in Fragile X

October 10, 2010

A clinical trial of minocycline in children with Fragile X found significantly better global improvement vs. placebo, supporting its safety and potential.

AMPAkines and BDNF in Fragile X: UCI Researchers Restore Memory Process in Fragile X

February 14, 2008

FRAXA’s $104K grant supported Dr. Julie Lauterborn at UC in studying dendritic spines and memory-related treatment targets in Fragile X mice.

In Vitro Reactivation of the Fragile X Gene

January 14, 2008

With FRAXA funding, Dr. Giovanni Neri’s team in Italy explored reactivating the FMR1 gene and studying cell lines with unmethylated full mutations.

Craig Erickson, MD, at Indiana University School of Medicine, FRAXA research grant

Clinical Trial of Aripiprazol in Fragile X Syndrome

September 1, 2007

With FRAXA funding, Dr. Craig Erickson tested aripiprazole (Abilify) in Fragile X. Ten of 12 participants improved—promising results that were published.

Experimental Compound FRAX486 Reverses Signs of Fragile X in Mice

February 13, 2006

With $81K from FRAXA, Dr. Susumu Tonegawa at MIT studied the PAK enzyme as a potential Fragile X treatment target. Results published.

Startle Modulation in Males with Fragile X Syndrome

September 27, 2004

FRAXA’s $42,720 grant helped Dr. Elisabeth Dykens uncover startle and PPI effects in Fragile X males. Results were published.

Role of Experience in Regulating Levels of the Fragile X Protein

January 1, 2004

With $49K in grant funding from FRAXA, Drs. Mack and Todd studied how neuronal activity — such as seizures or environmental stimulation — changes FMRP levels. Results published.

Transport of the Fragile X Protein

February 27, 2003

Dr. Alan Tartakoff studied how proteins communicate with the brain, how and when FMRP travels in the brain, and attempted to develop new antibodies to the Fragile X protein, FMRP.