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.
Using Fenobam to Reduce APP and Abeta in Fragile X Mice
With a $130,000 grant from FRAXA Research Foundation over 2008-2009, Drs. James Malter and Cara Westmark at the University of Wisconsin studied the relationship between the Fragile X protein FMRP and APP, a protein important to the pathology of Alzheimer’s Disease. APP may also contribute to the pathology of Fragile X, and its major metabolite, Aß, may contribute to abnormal protein synthesis via a positive feedback loop. This project sought to restore normal dendritic protein synthesis in Fragile X mice by breaking into this loop.
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.
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.
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.
In Vitro Reactivation of the Fragile X Gene
With a $60,000 grant from FRAXA Research Foundation, Dr. Giovanni Neri and his team at Universita Cattolica del S. Cuore explored reactivation of the FMR1 gene and characterization of cell lines with unmethylated full mutation.
FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics
Randy Carpenter, MD Principal Investigator with Mark Bear, PhD, MIT Co-Investigator (2007) conducted a clinical development of mGluR5 antagonists to treat Fragile X Syndrome and Autism. Seaside Therapeutics received a major grant from the NIH, with additional funding from FRAXA and Cure Autism Now (CAN) to develop STX107, a selective mGluR5 antagonist, as a treatment for Fragile X. Unfortunately, Seaside has since discontinued development of STX107.
Taurine and Somatostatin as Potential Treatments for Fragile X Syndrome: A Unifying Neuro-Endocrine Hypothesis
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.
Decreased 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.
Electrophysiological, 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).
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.
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.
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.
Examining 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.
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.
Pharmacologic 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.
Composition 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.
Generating Human Neurons Carrying the Fragile X Mutation
With a $50,000 grant from FRAXA Research Foundation, Dr. Clive Svendsen and his team at the University of Wisconsin grew neural stem cells that expressed the Fragile X mutation to help scientists better understand the gene characteristics.
Isolating and Characterizing the mRNAs That Bind FMRP
With $60,000 in grants from FRAXA Research Foundation from 1998-1999, Dr. Robert Denman and his team at the New York State Institute for Basic Research explored how FMRP possibly functions.
Treatment of a Mouse Model of Fragile X Syndrome with MPEP
With a $49,000 grant from FRAXA Research Foundation in 2003, Dr. Linda Crnic at the University of Colorado continued studies of MPEP in Fragile X mice, exploring whether chronic use improves symptoms of Fragile X syndrome without impairing cognitive function.
Identification of Specific RNA Targets of FMRP
With a $70,000 grant from FRAXA Research Foundation from 1999-2001, Dr. Robert Darnell and his team at Rockefeller University made significant contributions towards understanding how FMRP functions and how the brain is affected without it. Results published.
Neural Network Model of Working Memory in Fragile X Syndrome
With a $67,000 grant from FRAXA Research Foundation in 2000, Dr. Mina Johnson-Glenberg at the University of Wisconsin researched how long-term and working memory was affected in individuals with Fragile X syndrome.
Melatonin Clinical Trial in Fragile X
With a $60,000 grant from FRAXA Research Foundation from 1998-1999, Dr. Randi Hagerman and her team at the University of California studied the effects of different compounds on individuals with Fragile X syndrome, focusing specifically on melatonin. Results published.
Reactivation of the FMR1 Gene in Fragile X Patients Cells in Culture
With a $62,000 grant from FRAXA Research Foundation from 1999-2000, Dr. Giovanni Neri and his team at Universita Cattolica del S. Cuore explored possible strategies to turn the Fragile X gene back on.