Altered Cyclic AMP Signaling in Fragile X
FRAXA-funded research by Dr. Anita Bhattacharyya at the Waisman Center revealed key insights into cyclic AMP signaling in Fragile X. Findings were published.
Glutamate Metabolism in Fragile X Mouse Brain
Dr. Mary McKenna’s FRAXA-funded study at the University of Maryland examined how mGluR activity impacts key brain pathways linked to Fragile X.
Using Fenobam to Reduce APP and Abeta in Fragile X Mice
With FRAXA funding, Drs. James Malter and Cara Westmark studied how APP and its metabolite may drive excess protein synthesis in Fragile X, aiming to restore balance.
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.
Doris Buffett’s Challenge Grant to FRAXA: Over $1.5 Million for Research!
Doris Buffett’s $500K challenge inspired over 2,600 donors to raise $3.5M+ for Fragile X research—a true grassroots success!
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.
FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics
With support from FRAXA, Seaside Therapeutics developed STX107, an mGluR5 antagonist for Fragile X. Though development ended, it advanced key clinical insights.
Taurine and Somatostatin as Potential Treatments for Fragile X Syndrome: A Unifying Neuro-Endocrine Hypothesis
Dr. Abdeslem El Idrissi’s FRAXA-funded study tested somatostatin and taurine in Fragile X mice, revealing taurine’s promise as an accessible therapy.
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.