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.
Molecular Basis of Fragile X Syndrome: Genetic Modeling in Zebrafish
With a $52,500 grant from FRAXA Research Foundation in 2008, Dr. Robert Richards and his team from the University of Adelaide studied zebrafish models and embryo development abnormalities to search for treatment targets.
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.
Clinical Trial of Aripiprazol in Fragile X Syndrome
With a FRAXA Research Foundation grant of $30,000 in 2006, Dr. Erickson conducted a pilot clinical trial of an available medicine, aripiprazole (brand-name Abilify). This was an open-label 12-week trial in 12 people ages 6–25 years with Fragile X. Results were promising, and published: 10 of the 12 participants showed behavioral improvements.
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.
Regulation of Group I Metabotropic Glutamate Receptor Trafficking in Fragile X
With $83.5K from FRAXA, Dr. Anna Francesconi at Albert Einstein College studied receptor patterns and pathways linked to Fragile X.
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
Dr. Leonard Kaczmarek’s Yale lab revealed how Fragile X disrupts potassium channels, impairing auditory processing and fueling sensory overload.
Baclofen: GABA(B) Receptor Supersensitivity and Normalization of Behavioral Abnormalities by Various GABA(B) Agonists Including Baclofen in FMRP Deficient Mice
FRAXA’s $110K grant supported Dr. Miklos Toth at Cornell in discovering that baclofen corrects the heightened startle response in Fragile X mice.
Hypothalamic Pituitary Adrenal (HPA) Axis Dysregulation in Fragile X Syndrome
With $62K from FRAXA, Dr. Carolyn Smith studied the HPA stress axis in Fragile X mice, finding hormonal stress recovery unaffected. Results published.
Defining Functional Domains of FMRP and Uncovering its Partners via Large Scale Mutagenesis in Drosophila
With $80K from FRAXA, Dr. Yong Zhang at the Chinese Academy of Sciences identified genes that suppress Fragile X and explored FMRP function.
Experimental Compound FRAX486 Reverses Signs of Fragile X in Mice
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
A $100K FRAXA grant helped Dr. Oswald Steward at the University of California study protein synthesis in Fragile X mouse interneurons.
Therapeutic Interventions in FMR1 Knockout and Transgenic Mice: Role of the FMR1 Gene
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
An $80K FRAXA grant helped Dr. David Morris at the University of Washington explore FMRP isoform variation and brain expression.
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?
FRAXA’s $100K grant supported Drs. Jean Lauder and Sheryl Moy at UNC in exploring gene–gene interactions in Fragile X.
Metabotropic Glutamate Receptor Function in Fragile X Knockout Mice
FRAXA’s $143K grant supported Drs. Kaufmann, Huganir, Worley, and Lieberman at Johns Hopkins in studying mGluR dynamics in Fragile X mice.
Role of FMRP Interacting Protein CYFIP1 in Prader-Willi and Fragile X Syndromes
FRAXA’s $105K grant supported Dr. Yong-Hui Jiang at Baylor in exploring connections between Fragile X and Prader-Willi syndromes.
Drosophila CYFIP, a Molecular Link Between Actin Cytoskeleton Remodeling and Fragile X
With $130K from FRAXA, Dr. Angela Giangrande at Université Louis Pasteur studied dendrite, mRNA, and cytoskeleton interactions in fruit flies.
Genetic and Behavioral Analyses of the dFMR1 Pathway in Drosophila Peripheral Nervous System
FRAXA’s $160K grant supported Dr. Fen-Biao Gao’s UC team in exploring the connection between mRNA and FMRP.
Transcriptional Regulation of the Fragile X Gene
FRAXA’s $60K grant supported Dr. Justin Fallon’s Brown team in mapping Fragile X granules and uncovering FMRP’s presynaptic role.
Alterations in Neocortical Neuron Excitability Associated with Fragile X
In Fragile X, neuron signaling may be thrown off balance. Dr. Charles Cox investigated changes in excitability within the visual cortex.