behavior Archives • Page 8 of 10 • FRAXA Research Foundation

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.

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

April 13, 2012

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

In Vitro Coherent Network Activity

February 22, 2012

This work revealed that Fragile X neurons form disordered network dynamics—laying groundwork for using network activity as a treatment-screening metric.

Role of JNK in FMRP Regulated Translation in Fragile X Syndrome

January 31, 2012

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.

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.

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

April 30, 2011

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.

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

Clinical Trials Outcome Measures

February 22, 2011

In Fragile X participants, low-dose lithium showed benefits and helped refine biomarkers and behavioral assessments.

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.

GABAergic Inhibitory Function in Fragile X Syndrome

February 1, 2011

Fragile X mice show weakened GABAergic inhibition in key brain regions like the amygdala. Enhancing GABA_A receptor activity reduced hyperactivity and improved inhibition.

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.

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.

Neuromotor Outcome Measures for Clinical Trials in Fragile X Syndrome

February 1, 2010

Drs. Nicole Tartaglia and Tracey Stackhouse advanced neuromotor testing for Fragile X, paving the way for better-targeted clinical trials.

Stephen Haggarty, PhD, Harvard/MIT, Principal Investigator, FRAXA research grant

Small Molecule Modulators of Lithium for Treatment of Fragile X Syndrome

February 1, 2010

With a $219,500 FRAXA grant, Dr. Stephen Haggarty at Harvard/MIT used patient-derived stem cells to screen drugs targeting GSK3, aiming to enhance lithium therapy.

Aberrant Behavior Checklist in Fragile X Syndrome

February 1, 2010

With a $10,000 FRAXA grant, Dr. David Hessl at UC Davis analyzed the Aberrant Behavior Checklist as a key outcome measure for Fragile X. Results were published.

Drs. Oostra, Warren, and Nelson discovered the Fragile X gene and its FRAXA mutation in 1991.

Role of the Cerebellum in the Dysfunction of Fragile X Syndrome

February 26, 2009

With FRAXA funding, Dr. Ben Oostra’s Dutch-Belgian team linked Fragile X to cerebellar motor learning deficits. Results published in Neuron (2008).

Genome-wide Epigenetic Markers in Fragile X

February 5, 2009

Dr. Miklos Toth’s FRAXA-funded work at Cornell University examined how epigenetic factors shape the severity of Fragile X symptoms.

Iryna Ethell, PhD, at University of California

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

February 2, 2009

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.

Thomas Dockendorff, PhD, of University of Tennessee, FRAXA research grant

Novel Functions of Drosophila FMRP

February 2, 2009

Backed by a $120,000 FRAXA grant, Dr. Thomas Dockendorff’s University of Tennessee team explored Fragile X protein function through fly genetics.

Role of FMRP in the Regulation of Synaptic Plasticity

February 2, 2009

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

3 Researchers Honored at FRAXA Investigators Meeting

October 4, 2008

FRAXA’s 2008 Investigators Meeting brought together 150+ researchers from around the world to collaborate and speed new Fragile X therapies.

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

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

February 14, 2008

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.

Wen-Biao Gan, PhD, of New York University, FRAXA research grant

In Vivo Imaging of Synaptic Abnormalities in a Mouse Model of Fragile X Syndrome

February 14, 2008

FRAXA-funded research by Dr. Wen-Biao Gan at NYU visualized brain plasticity in Fragile X mice, revealing when neural connections form or go awry.

Ravi Allada, MD, at Northwestern University, FRAXA research grant

Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

February 14, 2008

With FRAXA funding, Dr. Ravi Allada’s team at Northwestern University studied Fragile X fruit flies to uncover causes of sleep and activity disturbances.

Inherited Channelopathies in Cortical Circuits of Fmr1 KO Mice

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

In Vitro Coherent Network Activity

Role of JNK in FMRP Regulated Translation in Fragile X Syndrome

Efficient Screening for Pharmaceutical Amelioration of FXS Behavioral Deficits in Drosophila

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

Clinical Trials Outcome Measures

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

GABAergic Inhibitory Function in Fragile X Syndrome

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

Pilot Clinical Trial of Lithium in Fragile X Shows Promising Results

Encouraging Results from First Trial of Minocycline in Fragile X

Neuromotor Outcome Measures for Clinical Trials in Fragile X Syndrome

Small Molecule Modulators of Lithium for Treatment of Fragile X Syndrome

Aberrant Behavior Checklist in Fragile X Syndrome

Role of the Cerebellum in the Dysfunction of Fragile X Syndrome

Genome-wide Epigenetic Markers in Fragile X

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

Novel Functions of Drosophila FMRP

Role of FMRP in the Regulation of Synaptic Plasticity

3 Researchers Honored at FRAXA Investigators Meeting

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

In Vivo Imaging of Synaptic Abnormalities in a Mouse Model of Fragile X Syndrome

Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

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