In Vivo Imaging of Synaptic Abnormalities in a Mouse Model of Fragile X Syndrome
FRAXA-funded research by Dr. Wen-Biao Gan at NYU visualized brain plasticity in Fragile X mice, revealing when neural connections form or go awry.
Sleep and Circadian Rhythms in Fragile X Mutant Drosophila
With FRAXA funding, Dr. Ravi Allada’s team at Northwestern University studied Fragile X fruit flies to uncover causes of sleep and activity disturbances.
AMPAkines and BDNF in Fragile X: UCI Researchers Restore Memory Process in Fragile X
FRAXA’s $104K grant supported Dr. Julie Lauterborn at UC in studying dendritic spines and memory-related treatment targets in Fragile X mice.
Development of the Fragile X Brain: Cellular Processes Regulated by FMRP During Development
FRAXA-funded research by Dr. Peter Kind at the University of Edinburgh explored how FMRP interacts with brain development to impact Fragile X.
Targeting the Role of Group 1 Metabotropic Glutamate Receptors
Dr. Huibert Mansvelder’s FRAXA-funded study at the University of Amsterdam examined receptor responses to drugs, revealing new therapeutic insights.
Effects of Alternative Splicing at FMR1 Exon 15 on Understanding Fragile X Syndrome
FRAXA-funded research by Dr. Robert Denman explored how exon 15 affects FMRP protein splicing—offering insights into Fragile X molecular mechanisms.
Molecular Basis of Fragile X Syndrome: Genetic Modeling in Zebrafish
Dr. Robert Richards and his Adelaide team used FRAXA funding to explore zebrafish models, revealing early clues to Fragile X treatment pathways.
In Vitro Reactivation of the Fragile X Gene
With FRAXA funding, Dr. Giovanni Neri’s team in Italy explored reactivating the FMR1 gene and studying cell lines with unmethylated full mutations.
Clinical Trial of Aripiprazol in Fragile X Syndrome
With FRAXA funding, Dr. Craig Erickson tested aripiprazole (Abilify) in Fragile X. Ten of 12 participants improved—promising results that were published.
FMRP-MAP1b RNA Interactions in Fragile X Syndrome
FRAXA-funded research by Dr. Mihaela Mihailescu at Duquesne University revealed insights into FMRP and RNA structure in Fragile X. Results were 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
Drs. Jay Gibson and Kimberly Huber used FRAXA funding to uncover whether disrupted brain inhibition drives Fragile X, paving the way for targeted therapies.
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
How does the amygdala impact Fragile X? With a $63,000 FRAXA grant, Dr. Joseph LeDoux’s NYU team set out to uncover crucial brain connections.
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.