Researcher Archives • Page 12 of 15 • FRAXA Research Foundation

Imaging Synaptic Structure and Function in Fragile X Mice

February 5, 2009

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

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.

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

Mouse Models of Fragile X Syndrome

February 5, 2009

With FRAXA support, Dr. Oostra’s team built the first Fragile X mouse model and published pivotal studies advancing the field.

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.

Basic Mechanisms of Disease and Potential Therapeutic Strategies

February 2, 2009

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.

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.

Altered Cyclic AMP Signaling in Fragile X

March 20, 2008

FRAXA-funded research by Dr. Anita Bhattacharyya at the Waisman Center revealed key insights into cyclic AMP signaling in Fragile X. Findings were published.

Glutamate Metabolism in Fragile X Mouse Brain

February 15, 2008

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

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.

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.

Peter Kind, PhD, of University of Edinburgh, FRAXA research grant

Development of the Fragile X Brain: Cellular Processes Regulated by FMRP During Development

February 14, 2008

FRAXA-funded research by Dr. Peter Kind at the University of Edinburgh explored how FMRP interacts with brain development to impact Fragile X.

Targeting the Role of Group 1 Metabotropic Glutamate Receptors

February 14, 2008

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

Effects of Alternative Splicing at FMR1 Exon 15 on Understanding Fragile X Syndrome

February 14, 2008

FRAXA-funded research by Dr. Robert Denman explored how exon 15 affects FMRP protein splicing—offering insights into Fragile X molecular mechanisms.

Molecular Basis of Fragile X Syndrome: Genetic Modeling in Zebrafish

February 6, 2008

Dr. Robert Richards and his Adelaide team used FRAXA funding to explore zebrafish models, revealing early clues to Fragile X treatment pathways.

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.

FMRP-MAP1b RNA Interactions in Fragile X Syndrome

February 6, 2007

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

Anna Francesconi, PhD, at Albert Einstein College of Medicine, FRAXA research grant

Regulation of Group I Metabotropic Glutamate Receptor Trafficking in Fragile X

February 6, 2007

With $83.5K from FRAXA, Dr. Anna Francesconi at Albert Einstein College studied receptor patterns and pathways linked to Fragile X.

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

February 6, 2007

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

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

January 9, 2007

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

Baclofen: GABA(B) Receptor Supersensitivity and Normalization of Behavioral Abnormalities by Various GABA(B) Agonists Including Baclofen in FMRP Deficient Mice

October 16, 2006

FRAXA’s $110K grant supported Dr. Miklos Toth at Cornell in discovering that baclofen corrects the heightened startle response in Fragile X mice.

Imaging Synaptic Structure and Function in Fragile X Mice

Genome-wide Epigenetic Markers in Fragile X

Mouse Models of Fragile X Syndrome

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

Novel Functions of Drosophila FMRP

Basic Mechanisms of Disease and Potential Therapeutic Strategies

Role of FMRP in the Regulation of Synaptic Plasticity

Altered Cyclic AMP Signaling in Fragile X

Glutamate Metabolism in Fragile X Mouse Brain

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

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

Development of the Fragile X Brain: Cellular Processes Regulated by FMRP During Development

Targeting the Role of Group 1 Metabotropic Glutamate Receptors

Effects of Alternative Splicing at FMR1 Exon 15 on Understanding Fragile X Syndrome

Molecular Basis of Fragile X Syndrome: Genetic Modeling in Zebrafish

In Vitro Reactivation of the Fragile X Gene

Clinical Trial of Aripiprazol in Fragile X Syndrome

FMRP-MAP1b RNA Interactions in Fragile X Syndrome

Regulation of Group I Metabotropic Glutamate Receptor Trafficking in Fragile X

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

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

Baclofen: GABA(B) Receptor Supersensitivity and Normalization of Behavioral Abnormalities by Various GABA(B) Agonists Including Baclofen in FMRP Deficient Mice

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