Disease Mechanisms Archives • Page 4 of 7 • FRAXA Research Foundation

Role of Excessive Protein Synthesis in the Ontogeny of FXS

May 8, 2011

Excessive neuronal protein synthesis is not just a symptom but appears to cause early synaptic wiring defects in Fragile X — highlighting translation control as a key target.

Altered Dendritic Synthesis of Postsynaptic Scaffold Protein Shank1 in Fragile X Syndrome

April 30, 2011

Loss of FMRP leads to excess synthesis of the scaffold protein Shank1 at dendrites. Elevated Shank1 may impair synaptic pruning and drive Fragile X spine 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.

Correcting Fragile X Syndrome by Inhibiting the Synaptic RNA-Binding Protein CPEB1

January 30, 2011

The Richter lab found that CPEB1 knockdown in Fmr1 KO mice normalized excessive protein synthesis and improved synaptic and memory problems tied to Fragile X.

Reactivation of the FMR1 Gene

February 22, 2010

The team screened compounds with Neuropharm (UK) looking for compounds to reactivate the FMR1 gene. They also analyzed unmethylated full mutation cell lines.

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.

Imaging Synaptic Structure and Function in Fragile X Mice

February 5, 2009

With $150K from FRAXA, Dr. Carlos Portera-Cailliau studied Fragile X mouse brains to examine dendrite structure and mGluR5 treatment effects.

Genome-wide Epigenetic Markers in Fragile X

February 5, 2009

Dr. Miklos Toth’s FRAXA-funded work at Cornell University examined how epigenetic factors shape the severity of Fragile X symptoms.

Iryna Ethell, PhD, at University of California

Role of Matrix Metalloproteinases (MMP-9) in Fragile X

February 2, 2009

With a $220,000 FRAXA grant, Dr. Iryna Ethell’s team at UC Riverside uncovered MMP-9’s role in Fragile X—leading to a major treatment strategy using minocycline.

Thomas Dockendorff, PhD, of University of Tennessee, FRAXA research grant

Novel Functions of Drosophila FMRP

February 2, 2009

Backed by a $120,000 FRAXA grant, Dr. Thomas Dockendorff’s University of Tennessee team explored Fragile X protein function through fly genetics.

Basic Mechanisms of Disease and Potential Therapeutic Strategies

February 2, 2009

Dr. Stephen Warren’s FRAXA-funded research at Emory led to the Fragile X gene discovery and new breakthroughs using stem cells and model systems.

Altered Cyclic AMP Signaling in Fragile X

March 20, 2008

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

February 15, 2008

Dr. Mary McKenna’s FRAXA-funded study at the University of Maryland examined how mGluR activity impacts key brain pathways linked to Fragile X.

Wen-Biao Gan, PhD, of New York University, FRAXA research grant

In Vivo Imaging of Synaptic Abnormalities in a Mouse Model of Fragile X Syndrome

February 14, 2008

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.

Ravi Allada, MD, at Northwestern University, FRAXA research grant

Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

February 14, 2008

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

February 14, 2008

FRAXA’s $104K grant supported Dr. Julie Lauterborn at UC in studying dendritic spines and memory-related treatment targets in Fragile X mice.

Peter Kind, PhD, of University of Edinburgh, FRAXA research grant

Development of the Fragile X Brain: Cellular Processes Regulated by FMRP During Development

February 14, 2008

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

February 14, 2008

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

February 14, 2008

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

February 6, 2008

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

January 14, 2008

With FRAXA funding, Dr. Giovanni Neri’s team in Italy explored reactivating the FMR1 gene and studying cell lines with unmethylated full mutations.

FMRP-MAP1b RNA Interactions in Fragile X Syndrome

February 6, 2007

FRAXA-funded research by Dr. Mihaela Mihailescu at Duquesne University revealed insights into FMRP and RNA structure in Fragile X. Results were published.

Anna Francesconi, PhD, at Albert Einstein College of Medicine, FRAXA research grant

Regulation of Group I Metabotropic Glutamate Receptor Trafficking in Fragile X

February 6, 2007

With $83.5K from FRAXA, Dr. Anna Francesconi at Albert Einstein College studied receptor patterns and pathways linked to Fragile X.

Role of Excessive Protein Synthesis in the Ontogeny of FXS

Altered Dendritic Synthesis of Postsynaptic Scaffold Protein Shank1 in Fragile X Syndrome

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

Correcting Fragile X Syndrome by Inhibiting the Synaptic RNA-Binding Protein CPEB1

Reactivation of the FMR1 Gene

Role of the Cerebellum in the Dysfunction of Fragile X Syndrome

Developing Fragile X Treatments in Fruit Flies and Mice

Imaging Synaptic Structure and Function in Fragile X Mice

Genome-wide Epigenetic Markers in Fragile X

Role of Matrix Metalloproteinases (MMP-9) in Fragile X

Novel Functions of Drosophila FMRP

Basic Mechanisms of Disease and Potential Therapeutic Strategies

Altered Cyclic AMP Signaling in Fragile X

Glutamate Metabolism in Fragile X Mouse Brain

In Vivo Imaging of Synaptic Abnormalities in a Mouse Model of Fragile X Syndrome

Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

AMPAkines and BDNF in Fragile X: UCI Researchers Restore Memory Process in Fragile X

Development of the Fragile X Brain: Cellular Processes Regulated by FMRP During Development

Targeting the Role of Group 1 Metabotropic Glutamate Receptors

Effects of Alternative Splicing at FMR1 Exon 15 on Understanding Fragile X Syndrome

Molecular Basis of Fragile X Syndrome: Genetic Modeling in Zebrafish

In Vitro Reactivation of the Fragile X Gene

FMRP-MAP1b RNA Interactions in Fragile X Syndrome

Regulation of Group I Metabotropic Glutamate Receptor Trafficking in Fragile X

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