Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X

Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X

With a $35,000 grant from FRAXA Research Foundation in 2016, Dr. Peter Vanderklish at Scripps Research Institute, and colleagues, explored the basis of anxiety in Fragile X syndrome.

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Abnormalities of Synaptic Plasticity in the Fragile X Amygdala

Abnormalities of Synaptic Plasticity in the Fragile X Amygdala

With a $110,050 grant from FRAXA Research Foundation from 2005-2016, Dr. Sumantra Chattarji at the National Center for Biological Sciences researched how the amygdala is affected by Fragile X syndrome. Results published.

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Fruit Flies to Model and Test Fragile X Treatments

Fruit Flies to Model and Test Fragile X Treatments

Dr. Jongens and his collaborators have found an insulin-like protein in the fly brain that is overexpressed in the Fragile X mutant fly, leading to increased activity of the insulin signaling pathway. Furthermore, they found that certain behavioral patterns in the Fragile X flies can be rescued by expressing the FX gene just in insulin producing neurons in the fly brain. In the mutant, there are other changes in the signaling pathways, including a decrease in cAMP and elevation in PI3K, mTOR, Akt and ERK activity. They now propose to study 2 medicines used for diabetes: pioglitazone (increases cAMP and decreases Akt and ERK) and metformin (inhibits mTOR), in flies and mice to validate the potential efficacy of these novel therapeutics for Fragile X.

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Research Grants to Dr. Kimberly Huber 2000-2010

Research Grants to Dr. Kimberly Huber 2000-2010

With a $474,300 grant from FRAXA Research Foundation from 2000-2013, Dr. Kimberly Huber and her team at the University of Texas conducted several studies on the relationship between mGluR5 and Fragile X syndrome. Dr. Huber made the original discovery of the mGluR Theory of Fragile X when she was a postdoctoral fellow in the lab of Dr. Mark Bear, with her first FRAXA grant in 2000.

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Serotonergic Rescue of Synaptic Plasticity in FMR1 Knockout Mice

Serotonergic Rescue of Synaptic Plasticity in FMR1 Knockout Mice

With $306,000 in grants from FRAXA Research Foundation, Dr. Julius Zhu from the University of Virginia examined the effects of several drugs such as Buspar and Abilify which manipulate specific serotonin receptors and the effect that has on synaptic plasticity (LTP and LTD).

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Clinical Trials Outcome Measures / Lithium Pilot Trial

Clinical Trials Outcome Measures / Lithium Pilot Trial

With a $281,824 grant from FRAXA Research Foundation from 2002-2011, Dr. Berry-Kravis at the Rush University Medical Center attempted to validate a new automated video tracking system for quantifying physical activity as an outcome measure for Fragile X clinical trials.

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Understanding the Mechanism of mGluR5 in Fragile X Mouse Models

Understanding the Mechanism of mGluR5 in Fragile X Mouse Models

With $184,000 in funding from FRAXA Research Foundation from 1996-2005, Dr. Ben Oostra and his team at Erasmus University have done multiple studies related to Fragile X syndrome. This lab created the first Fragile X mouse models and went on to perform many critical studies in Fragile X mouse models. Results published.

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Developing Fragile X Treatments in Fruit Flies and Mice

Developing Fragile X Treatments in Fruit Flies and Mice

With a $380,000 grant from FRAXA Research Foundation from 2005-2009, Drs. Sean McBride, Tom Jogens, and Catherine Choi studied one of the most important aspects of FRAXA’s research; the preclinical validation of potential therapeutic strategies. Many labs have found new leads for treatment. However, very few have the capacity to test new drugs in the mouse model to establish efficacy rigorously enough to lead to clinical trials. The McBride lab (in a broad collaboration with the Choi, Jongens, and Skoulakis groups) aims to do just that. Results published.

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Imaging Synaptic Structure and Function in Fragile X Mice

Imaging Synaptic Structure and Function in Fragile X Mice

With in $150,000 grants from FRAXA Research Foundation over 2005-2009, Dr. Carlos Portera-Cailliau studied intact, anesthetized Fragile X mouse brains, looking for defects in the density, length, or dynamics of the dendrites. They looked for changes in the neurons after treatment with mGluR5 antagonists.

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Basic Mechanisms of Disease and Potential Therapeutic Strategies

Basic Mechanisms of Disease and Potential Therapeutic Strategies

With $245,000 in grants from FRAXA Research Foundation, Dr. Stephen Warren and his lab at Emory University studied all aspects of Fragile X syndrome, from the mechanisms of repeat expansion to high-throughput drug screens in the Drosophila model of Fragile X. The Warren lab made the original discovery of the Fragile X gene, FMR1, in collaboration with the Nelson and Oostra labs, and is recognized internationally as a leader in molecular genetics. Recent projects include establishment of induced pluripotent stem cell lines from Fragile X patients, and determination of other forms of mutation in the Fragile X gene, other than the most common trinucleotide repeat expansion.

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Role of FMRP in the Regulation of Synaptic Plasticity

Role of FMRP in the Regulation of Synaptic Plasticity

With more than $1,000,000 from FRAXA Research Foundation over 13 years, Drs. William Greenough and Ivan-Jeanne Weiler at the University of Illinois uncovered the role of FMRP at synapses, leading to much of the subsequent research on Fragile X syndrome.

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

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

With a $104,498 grant from FRAXA Research Foundation from 2003-2008, Dr. Julie Lauterborn at the University of California has done several studies on dentritic spines and finding treatment targets for memory retention in Fragile X mice.

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Regulation of Group I Metabotropic Glutamate Receptor Trafficking in Fragile X

Regulation of Group I Metabotropic Glutamate Receptor Trafficking in Fragile X

With an $83,500 grant from FRAXA Research Foundation in 2005 and 2007, Dr. Anna Fracesconi at Albert Einstein College studied the patterns and pathways of different receptors related to Fragile X.

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

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

With $110,000 in grants from FRAXA Research Foundation over several years, Dr. Miklos Toth from Cornell University discovered increased startle response in Fragile X mice and that baclofen can correct this phenotype.

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

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

The hypothalamic pituitary adrenal (HPA) axis is our central stress response system. FRAXA Research Foundation awarded Dr. Carolyn B. Smith $62,000 in funding in 2005 to explore the HPA axis in Fragile X mice. The results of their study indicate that, in FVB/NJ mice, the hormonal response to and recovery from acute stress is unaltered by the lack of Fragile X mental retardation protein. Results published.

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Defining Functional Domains of FMRP and Uncovering its Partners via Large Scale Mutagenesis in Drosophila

Defining Functional Domains of FMRP and Uncovering its Partners via Large Scale Mutagenesis in Drosophila
With $80,000 in funding from FRAXA Research Foundation in 2005 and in 2006, Dr. Yong Zhang and his team at the Chinese Academy of Sciences developed a way to find genes that suppress the Fragile X gene. $80,000 GrantYong Zhang, PhD Principal Investigator Xinda Lin, PhD FRAXA Postdoctoral Fellow Chinese Academy of Sciences FRAXA Research Grants $40,000 (2006) $40,000 (2005) by Xinda Lin FMRP is a widely expressed RNA-binding protein involved in RNA transport and translation. Intensive studies in the last decade have demonstrated that FMRP contains four RNA binding domains, but their actual functions are mostly untested. Meanwhile, a dozen or so protein partners and hundreds of mRNA targets interacting with FMRP have been identified, but again their functions are poorly understood. It is important that the functional domains of FMRP and its interacting partners be identified and characterized in order to understand the pathogenesis of Fragile X. In the lastRead more

Experimental Compound FRAX486 Reverses Signs of Fragile X in Mice

Experimental Compound FRAX486 Reverses Signs of Fragile X in Mice

With an $81,000 grant from FRAXA Research Foundation from 2005-2006, Dr. Susumu Tonegawa and his team at MIT studied the enzyme PAK to determine how it could be used for a treatment target. Results published.

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

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

With a $229,000 grant from FRAXA Research Foundation in 2006, Drs. Richard Paylor, David Albeck, and Francis Brennan at the Baylor College of Medicine found that, in mice as in humans, the level of Fragile X protein in brain cells plays a prominent role in determining levels of activity and anxiety.

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Splicing Variations of the Fragile X Gene

Splicing Variations of the Fragile X Gene

With an $80,000 grant from FRAXA Research Foundation from 2005-2006, Dr. David Morris and his team at the University of Washington team aimed to understand the variation in distribution and function of FMRP isoforms, sought to identify isoforms of FMRP in mouse brain, and define the expression pattern of these versions of the protein.

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

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

With a $100,000 grant from FRAXA Research Foundation from 2005-2006, Drs. Jean Lauder and Sheryl Moy at the University of North Carolina looked for gene-gene interactions in Fragile X syndrome.

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Metabotropic Glutamate Receptor Function in Fragile X Knockout Mice

Metabotropic Glutamate Receptor Function in Fragile X Knockout Mice

With $143,000 in grants from FRAXA Research Foundation from 2004-2006, Drs. Walter Kaufmann, Richard Huganier, Paul Worley, and David Lieberman at Johns Hopkins University studied the molecular dynamics of mGluRs in areas involved in cognition in the Fragile X knockout mouse.

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

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

With a $105,000 grant from FRAXA Research Foundation from 2005-2006, Dr. Yong-Hui Jiang at Baylor College of Medicine explored the relationship between Fragile X syndrome and Prader-Willi syndrome.

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

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

With $130,000 in funding from FRAXA Research Foundationfrom 2004-2006, Dr. Angela Giangrande at the Universite Louis Pasteur investigated the interactions between dendrites, messenger mRNA, and the cytoskeleton in fruit flies, which are a simple yet powerful system in which multiple genes can be manipulated with relative ease.

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

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

With a $160,000 grant from FRAXA Research Foundation from 2004-2006, Dr. Fen-Biao Gao and his team at the University of California studied the relationship between mRNA and FMRP.

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