Role of JNK in FMRP Regulated Translation in Fragile X Syndrome

Role of JNK in FMRP Regulated Translation in Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation over 2 years, Dr. Michael Wilhelm and his team at the University of Wisconsin studied a protein known as JNK, which is observed to be abnormally regulated in Fragile X. Like FMRP, it is involved in regulating dendritic protein synthesis, and so it may be a target for drug therapy in Fragile X.

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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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Efficient Screening for Pharmaceutical Amelioration of FXS Behavioral Deficits in Drosophila

Efficient Screening for Pharmaceutical Amelioration of FXS Behavioral Deficits in Drosophila

With a $112,250 grant from FRAXA Research Foundation over 3 years, Dr. Efthimios Skoulakis and his team from the Institute of Cellular and Developmental Biology conducted the first FRAXA project in Greece, where they developed a speedy new test for learning problems in fruit flies, which allowed them to test a number of drugs that are potential Fragile X treatments.

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Channelopathies: Altered Ion Channels in Fragile X Syndrome

Channelopathies: Altered Ion Channels in Fragile X Syndrome

With a $95,000 grant from FRAXA Research Foundation from 2010-2011, Dr. Daniel Johnston and Dr. Darrin Brager at the University of Texas at Austin investigated alterations in ion channels in Fragile X syndrome. They explored potential therapeutic effects of drugs which open and close these channels. Results published.

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Role of Excessive Protein Synthesis in the Ontogeny of FXS

Role of Excessive Protein Synthesis in the Ontogeny of FXS

With a $90,000 grant from FRAXA Research Foundation in 2010-2011, Dr. Mark Bear and Dr. Miquel Bosch tested the simple hypothesis that the excessive rate of protein synthesis is not a consequence but the primary cause of the structural alterations occurring in Fragile X syndrome.

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

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

With a $106,800 grant from FRAXA Research Foundation over 2 years, Drs. Stephan Kindler and Hans-Jurgen Kreieinkamp studied a protein, Shank1, which is overabundant in Fragile X syndrome.

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

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

With a $90,000 grant from FRAXA Research Foundation, Dr. Hongbing Wang’s team from Michigan State University looked at a treatment target “downstream” of the mGluR5 called cyclic AMP (cAMP). Levels of cAMP are lower in FXS patients and animal models, suggesting that it plays a role in FXS. Drugs that raise levels of cAMP may effectively treat Fragile X. We are very pleased to report that, in 2012, Dr. Wang received a 5-year, $250,000 per year R01 grant from NIH to continue this promising research.

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

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

The Richter lab is the foremost research group in the world in the study of CPEB, a protein critical for regulation of protein synthesis. With $170,000 in grants from FRAXA Research Foundation over 2008-2011, Dr. Joel Richter of the University of MA Medical School explored whether inhibitions of the CPEB may be a viable approach for treatment of Fragile X.

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Reactivation of the FMR1 Gene

Reactivation of the FMR1 Gene

With a $50,000 grant from FRAXA Research Foundation, Dr. Giovanni Neri and his team at Universita Cattolica del S. Cuore screened compounds with Neuropharm (UK) for reactivating compounds. This team is collaborating with Dr. Stephen Haggarty at Harvard and MIT (who also has a FRAXA grant), researching reactivation of the FMR1 gene and characterization of cell lines with unmethylated full mutations. Results published.

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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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Genome-wide Epigenetic Markers in Fragile X

Genome-wide Epigenetic Markers in Fragile X

With $45,000 in grants from FRAXA Research Foundation over several years, Dr. Miklos Toth of Cornell University studied epigenetics (ie factors other than the gene itself) which can determine symptom severity in Fragile X.

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

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

With a $220,000 grant from FRAXA Research Foundation over 3 years, Dr. Iryna Ethell from the University of California at Riverside studied the regulation of dendritic structure by matrix metalloproteinases and other extracellular signaling pathways. This work identified a major treatment strategy for Fragile X with the available MMP-9 inhibitor, minocycline.

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Novel Functions of Drosophila FMRP

Novel Functions of Drosophila FMRP

With a $120,000 grant from FRAXA Research Foundation over 2 years, Dr. Thomas Dockendorff from the University of Tennessee and his colleagues were pioneers in using the power of fly genetics to understand the different functions of the fly version of the Fragile X protein.

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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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Altered Cyclic AMP Signaling in Fragile X

Altered Cyclic AMP Signaling in Fragile X

With $125,000 grant from FRAXA Research Foundation over 2006-2008, Dr. Anita Bhattacharyya at the University of Wisconsin Waisman Center investigated abnormalities in cyclic AMP signaling in Fragile X syndrome. Results published.

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Glutamate Metabolism in Fragile X Mouse Brain

Glutamate Metabolism in Fragile X Mouse Brain

With a $95,000 grant from FRAXA Research Foundation over 2 years, Mary McKenna at the University of Maryland studied the role of metabotropic glutamate receptors (mGluR) and how they affect other cells and pathways.

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

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

With an $85,000 grant from FRAXA Research Foundation over 2007-2008, Dr. Wen-Biao Gan and his team at New York University studied in-vivo protein development using imaging in mouse models to determine when pre- and postsynaptic structural plasticity occurs to target and when it develops abnormally.

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Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

With an $80,000 grant from FRAXA Research Foundation over 2 years, Dr. Ravi Allada and his team studied at Northwestern University sleep behaviors in Fragile X fruit flies. These fruit flies are useful for several important reasons; not only do they have a good cognitive phenotype, they also have a clear disturbance of circadian rhythms. This is an important model for human hyperactivity and sleep disorders, and this group studied the underlying mechanisms in an effort to find treatments for the human conditions.

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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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Targeting the Role of Group 1 Metabotropic Glutamate Receptors

Targeting the Role of Group 1 Metabotropic Glutamate Receptors

With a $40,000 grant from FRAXA Research Foundation in 2008, Dr. Huibert Mansvelder and his team at the University of Amsterdam studied the role of different receptors and their reactions to drug compounds.

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

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

With a $118,500 grant from FRAXA Research Foundation from 2007-2008, Dr. Robert Denman and his team at the New York State Institute for Basic Research studied protein splicing, specifically looking at exon 15-encoded residues of of FMPR.

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