With a $74,000 grant from FRAXA Research Foundation, Dr. Abdeslem El Idrissi at CUNY explored the GABA receptor system in Fragile X mice and tested somatostatin and taurine as potential therapies for Fragile X; while somatostatin must be infused intravenously, taurine is available as a nutritional supplement.
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FMRP-MAP1b RNA Interactions in Fragile X Syndrome
With a $95,000 grant from FRAXA Research Foundation from 2006-2007, Dr. Mihaela Mihailescu and her team at Dusquesne University studied the relationship between FMRP, RNA sequences, and G quartet structure. Results published.
Read moreRegulation 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.
Read moreDecreased Excitatory Drive onto Parvalbumin-Positive Neocortical Inhibitory Neurons in a Mouse Model of Fragile X Syndrome
With an $80,000 grant from FRAXA Research Foundation over 2006-7, Drs. Jay Gibson and Kimberly Huber at the University of Texas at Southwestern examined if the defected inhibitory neurotransmission was a primary or secondary symptom of Fragile X to determine where future treatment targets should be focused.
Read moreElectrophysiological, Biochemical and Immunohistochemical Characterization of Kv3.1 in Auditory Brainstem Nuclei in the Fragile X Knockout Mouse
With $80,000 in funding from FRAXA over several years, the Yale University team of Leonard Kaczmarek, PhD showed that loss of FMRP leads to an increased Kv3.1 potassium currents. This change impairs timing of action potentials in auditory neurons (and likely others throughout the brain).
Read moreBaclofen: 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.
Read moreHypothalamic 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.
Read moreExperimental 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.
Read moreProtein Synthesis in Interneurons in Fragile X Mice
With a $100,000 grant from FRAXA Research Foundation from 2004-2006, Dr. Oswald Steward and his team at the University of California studied protein synthesis alterations in Fragile X mice in the brains’ interneurons.
Read moreTherapeutic 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.
Read moreSplicing 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 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.
Read moreExamining the Amygdala in Mouse Models of Fragile X
With a $63,000 grant from FRAXA Research Foundation in 2006, Dr. Joseph LeDoux and his team at New York University studied the role of the amygdala in Fragile X syndrome using mouse models.
Read moreSocial 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.
Read moreMetabotropic 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.
Read moreRole 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.
Read moreDrosophila 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.
Read moreGenetic 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.
Read moreTranscriptional Regulation of the Fragile X Gene
With a $60,000 in grant from FRAXA Research Foundation, Dr. Justin Fallon and his team at Brown University studied systematic mapping of Fragile X granules in developing mouse brains, revealing a potential role for presynaptic FMRP in sensorimotor functions.
Read moreAlterations in Neocortical Neuron Excitability Associated with Fragile X
With a $107,000 grant from FRAXA Research Foundation from 2005-2006, Dr. Charles Cox at the University of Illinois looked for alterations in the intrinsic excitability of individual neurons within the visual neocortex in Fragile X syndrome.
Read morePharmacologic Interventions in the Fmr1 KO Mouse
With $48,600 in grants from FRAXA Research Foundation over 2004-2006, Dr. Catherine Choi at Drexel University studied Fragile X knockout mice to determine future treatment targets for Fragile X syndrome in humans.
Read moreFMR Expression in Zebra Finch
With a $18,500 grant from FRAXA Research Foundation in 2006, Dr. Stephanie Ceman from the University of Illinois studied Fragile X in zebra finches to better understand the impairments of verbal expression in individuals with Fragile X syndrome. Results published.
Read moreTransgenic Mouse Models of Fragile X Syndrome
With $736,000 in grants from FRAXA Research Foundation over 2000-2007, Dr. Robert Bauchwitz at Columbia University developed 15 transgenic mouse models of Fragile X syndrome, using them to evaluate a range of experimental treatments. Results published.
Read moreComposition and Dynamics of FMRP-Containing RNP Complexes
FRAXA Research Foundation funded a grant of $30,000 in 2005 to Dr. Barbara Bardoni at INSERM in France. The team works on the biochemistry of the Fragile X protein.
Read moreRole of MicroRNAs in Fragile X Syndrome
With a $70,000 grant from FRAXA Research Foundation from 2004-2005, Drs. Thomas Tuschl and Neil Renwick and their team at Rockefeller University researched how FMRP interacts with miRNA in order to determine more effective treatment targets for Fragile X syndrome.
Read moreIntracortical Circuitry in the Barrel Cortex of FMR1-KO Mice
With $40,000 in funding from FRAXA Research Foundation in 2005, Dr. Karel Svoboda and his team at the Cold Spring Harbor Laboratory imaged neocortical circuits in Fragile X mice to determine the functions of the abnormal dendritic spines found in Fragile X syndrome.
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