LTD (Long-term depression) Archives • FRAXA Research Foundation - Finding a Cure for Fragile X Syndrome

Paul Lombroso, PhD, Yale University, FRAXA Investigator

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

February 26, 2015

STEP inhibition reversed behavioral and synaptic Fragile X deficits in mice (Neuropharmacology, 2018), highlighting STEP as a promising treatment target.

Kimberly Huber, Ph.D., FRAXA Investigator

Targeting mGluR-LTD to Treat Fragile X Syndrome

March 12, 2013

With FRAXA support, Dr. Kimberly Huber uncovered how mGluR signaling contributes to Fragile X, laying the foundation for major clinical advances.

Preclinical Evaluation of Serotonin Receptor Agonists as Novel Pharmacological Tools in Fragile X Syndrome

February 22, 2013

With FRAXA funding the team found that activating 5-HT7 receptors reversed excess mGluR-LTD in Fragile X mice, pointing to a new route to fix synapses.

Fragile X Researcher, Cara Westmark, PhD

Ab-Mediated Translation in Fragile X Syndrome

September 13, 2012

This work found amyloid precursor protein (APP) overexpression and increased β-amyloid in Fragile X mice, implicating Alzheimer-related pathways in FXS pathology.

Manipulating Basal and mGluR-Stimulated cAMP Level in FXS Model Mice

February 1, 2011

Fragile X mice show reduced basal cAMP and exaggerated mGluR-LTD; boosting cAMP or blocking specific adenylyl cyclases rescues synaptic and behavioral defects.

Drs. Oostra, Warren, and Nelson discovered the Fragile X gene and its FRAXA mutation in 1991.

Role of the Cerebellum in the Dysfunction of Fragile X Syndrome

February 26, 2009

With FRAXA funding, Dr. Ben Oostra’s Dutch-Belgian team linked Fragile X to cerebellar motor learning deficits. Results published in Neuron (2008).

Sean McBride, PhD, Albert Einstein College of Medicine, FRAZA research grant

Developing Fragile X Treatments in Fruit Flies and Mice

February 26, 2009

FRAXA’s $380K grant supported Drs. McBride, Jongens, and Choi in validating Fragile X treatments in mice to prepare for trials. Findings published.

Yong-Hui Jiang, PhD, at Baylor College of Medicine, FRAXA research grant

Role of FMRP Interacting Protein CYFIP1 in Prader-Willi and Fragile X Syndromes

February 13, 2006

FRAXA’s $105K grant supported Dr. Yong-Hui Jiang at Baylor in exploring connections between Fragile X and Prader-Willi syndromes.

Angela Giangrande, PhD, Universite Louis Pasteur, FRAXA research grant

Drosophila CYFIP, a Molecular Link Between Actin Cytoskeleton Remodeling and Fragile X

February 13, 2006

With $130K from FRAXA, Dr. Angela Giangrande at Université Louis Pasteur studied dendrite, mRNA, and cytoskeleton interactions in fruit flies.

Catherine Choi, Drexel University, FRAXA research grant

Pharmacologic Interventions in the Fmr1 KO Mouse

February 13, 2006

With $48.6K from FRAXA, Dr. Catherine Choi at Drexel studied Fragile X knockout mice to identify potential treatment targets.

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FRAXA Funded Research

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