Research Archives • Page 10 of 12 • FRAXA Research Foundation

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.

Randall Carpenter, MD, at Massachusetts Institute of Technology, FRAXA research grant

FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics

July 9, 2007

With support from FRAXA, Seaside Therapeutics developed STX107, an mGluR5 antagonist for Fragile X. Though development ended, it advanced key clinical insights.

Taurine and Somatostatin as Potential Treatments for Fragile X Syndrome: A Unifying Neuro-Endocrine Hypothesis

March 21, 2007

Dr. Abdeslem El Idrissi’s FRAXA-funded study tested somatostatin and taurine in Fragile X mice, revealing taurine’s promise as an accessible therapy.

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.

Hypothalamic Pituitary Adrenal (HPA) Axis Dysregulation in Fragile X Syndrome

August 23, 2006

With $62K from FRAXA, Dr. Carolyn Smith studied the HPA stress axis in Fragile X mice, finding hormonal stress recovery unaffected. Results 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.

Protein Synthesis in Interneurons in Fragile X Mice

February 13, 2006

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

Richard Paylor, PhD, at Baylor College of Medicine, FRAXA Research grant

Therapeutic Interventions in FMR1 Knockout and Transgenic Mice: Role of the FMR1 Gene

February 13, 2006

With FRAXA’s $229K grant, Baylor researchers showed that Fragile X protein levels in the brain affect activity and anxiety in mice and humans.

Splicing Variations of the Fragile X Gene

February 13, 2006

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

Joseph LeDoux, PhD, at New York University, FRAXA research grant

Examining the Amygdala in Mouse Models of Fragile X

February 13, 2006

How does the amygdala impact Fragile X? With a $63,000 FRAXA grant, Dr. Joseph LeDoux’s NYU team set out to uncover crucial brain connections.

Social Deficits in Fragile X Syndrome: Do Gene-Gene Interactions Play a Role?

February 13, 2006

FRAXA’s $100K grant supported Drs. Jean Lauder and Sheryl Moy at UNC in exploring gene–gene interactions in Fragile X.

Walter Kaufman, MD, PhD, at Johns Hopkins University, FRAXA research grant

Metabotropic Glutamate Receptor Function in Fragile X Knockout Mice

February 13, 2006

FRAXA’s $143K grant supported Drs. Kaufmann, Huganir, Worley, and Lieberman at Johns Hopkins in studying mGluR dynamics in Fragile X mice.

Yong-Hui Jiang, PhD, at Baylor College of Medicine, FRAXA research grant

Role of FMRP Interacting Protein CYFIP1 in Prader-Willi and Fragile X Syndromes

February 13, 2006

FRAXA’s $105K grant supported Dr. Yong-Hui Jiang at Baylor in exploring connections between Fragile X and Prader-Willi syndromes.

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

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

February 13, 2006

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

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

February 13, 2006

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

Justin Fallon, PhD, Brown University, FRAXA research grant

Transcriptional Regulation of the Fragile X Gene

February 13, 2006

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

Charles Cox, PhD, at University of Illinois at Urbana-Champaign, FRAXA research grant

Alterations in Neocortical Neuron Excitability Associated with Fragile X

February 13, 2006

In Fragile X, neuron signaling may be thrown off balance. Dr. Charles Cox investigated changes in excitability within the visual cortex.

Catherine Choi, Drexel University, FRAXA research grant

Pharmacologic Interventions in the Fmr1 KO Mouse

February 13, 2006

With $48.6K from FRAXA, Dr. Catherine Choi at Drexel studied Fragile X knockout mice to identify potential treatment targets.

Stephanie Ceman, PhD, at University of Illinois at Urbana-Champaign, FRAXA research grant

FMR Expression in Zebra Finch

February 13, 2006

With $18.5K from FRAXA, Dr. Stephanie Ceman at Illinois used zebra finches to study how Fragile X affects speech and vocal learning. Results published.

Robert Bauchwitz, MD, PhD, at Columbia University, FRAXA research grant

Transgenic Mouse Models of Fragile X Syndrome

February 13, 2006

With $736K from FRAXA, Dr. Bauchwitz built 15 Fragile X mouse models at Columbia to test and publish results on new treatments.

Clinical Trial of Aripiprazol in Fragile X Syndrome

FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics

Taurine and Somatostatin as Potential Treatments for Fragile X Syndrome: A Unifying Neuro-Endocrine Hypothesis

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

Hypothalamic Pituitary Adrenal (HPA) Axis Dysregulation in Fragile X Syndrome

Experimental Compound FRAX486 Reverses Signs of Fragile X in Mice

Protein Synthesis in Interneurons in Fragile X Mice

Therapeutic Interventions in FMR1 Knockout and Transgenic Mice: Role of the FMR1 Gene

Splicing Variations of the Fragile X Gene

Examining the Amygdala in Mouse Models of Fragile X

Social Deficits in Fragile X Syndrome: Do Gene-Gene Interactions Play a Role?

Metabotropic Glutamate Receptor Function in Fragile X Knockout Mice

Role of FMRP Interacting Protein CYFIP1 in Prader-Willi and Fragile X Syndromes

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

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

Transcriptional Regulation of the Fragile X Gene

Alterations in Neocortical Neuron Excitability Associated with Fragile X

Pharmacologic Interventions in the Fmr1 KO Mouse

FMR Expression in Zebra Finch

Transgenic Mouse Models of Fragile X Syndrome

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