Disease Mechanisms Archives • Page 5 of 7 • FRAXA Research Foundation

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.

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.

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.

Composition and Dynamics of FMRP-Containing RNP Complexes

September 20, 2005

A $30K FRAXA grant helped Dr. Barbara Bardoni at INSERM, France, explore the biochemistry and function of the Fragile X protein.

Thomas Tuschl, PhD, at Rockefeller University, FRAXA research grant

Role of MicroRNAs in Fragile X Syndrome

February 22, 2005

A $70K FRAXA grant helped Drs. Thomas Tuschl and Neil Renwick study FMRP–miRNA links to identify better treatment targets for Fragile X.

Karel Svoboda, PhD, at Cold Spring Harbor Laboratory, FRAXA research grant

Intracortical Circuitry in the Barrel Cortex of FMR1-KO Mice

February 22, 2005

With $40K from FRAXA, Dr. Karel Svoboda at Cold Spring Harbor imaged brain circuits in Fragile X mice to study abnormal dendritic spines.

Vladimir Gelfand, PhD, at Northwestern University, FRAXA research grant

Transport, Anchoring and Translation of FMRP-Associated mRNAs

February 15, 2005

FRAXA’s $40K grant supported Dr. Vladimir Gelfand’s Northwestern team in exploring links between mGluR, mRNA, and FMRP.

Holly Cline, PhD, at Cold Spring Harbor Laboratory, FRAXA research grant

FMRP Function in the Xenopus Visual System

February 27, 2004

With $75K from FRAXA, Dr. Holly Cline at Cold Spring Harbor studied Fragile X proteins and mRNA regulation in tadpoles.

Fragile X Syndrome and RNAi

February 27, 2004

With $75K from FRAXA, Dr. Richard Carthew at Northwestern studied how RNA interference (RNAi) and FMRP interact in Fragile X.

Clive Svendsen, PhD, at University of Wisconsin, FRAXA research grant

Generating Human Neurons Carrying the Fragile X Mutation

February 26, 2004

FRAXA’s $50K grant supported Dr. Clive Svendsen at Wisconsin in growing Fragile X stem cells to better understand gene characteristics.

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

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

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

Composition and Dynamics of FMRP-Containing RNP Complexes

Role of MicroRNAs in Fragile X Syndrome

Intracortical Circuitry in the Barrel Cortex of FMR1-KO Mice

Transport, Anchoring and Translation of FMRP-Associated mRNAs

FMRP Function in the Xenopus Visual System

Fragile X Syndrome and RNAi

Generating Human Neurons Carrying the Fragile X Mutation

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