amyloid precursor protein Archives • FRAXA Research Foundation

Claudia Bagni, PhD, at University of Rome, FRAXA research grant

Crossroads of Fragile X and Alzheimers Research

July 20, 2015

Last week researchers at VIB Leuven in Belgium published evidence that a brain pathway involving the protein APP (Amyloid Precursor Protein) plays a vital role in development of Fragile X syndrome, one of the most common causes of autism. Scientists led by Dr. Emanuela Pasciuto in the laboratory of Prof Claudia Bagni published findings of their study in the journal Neuron.

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.

Compound that Inhibits mGluR5 Corrects Signs of Fragile X in Adult Mice

April 13, 2012

A Roche and MIT study published in Neuron finds that an mGlu5 inhibitor, CTEP, can reverse many Fragile X symptoms in adult mice.

Role of JNK in FMRP Regulated Translation in Fragile X Syndrome

January 31, 2012

JNK kinase is abnormally active in Fragile X model mice and directly regulates mGluR-dependent translation of FMRP targets, pointing to JNK as a therapeutic target.

James Malter, at University of Wisconsin-Madison, FRAXA research grant

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

February 14, 2008

With a $130,000 grant from FRAXA Research Foundation over 2008-2009, Drs. James Malter and Cara Westmark at the University of Wisconsin studied the relationship between the Fragile X protein FMRP and APP, a protein important to the pathology of Alzheimer’s Disease. APP may also contribute to the pathology of Fragile X, and its major metabolite, Aß, may contribute to abnormal protein synthesis via a positive feedback loop. This project sought to restore normal dendritic protein synthesis in Fragile X mice by breaking into this loop.

Crossroads of Fragile X and Alzheimers Research

Ab-Mediated Translation in Fragile X Syndrome

Compound that Inhibits mGluR5 Corrects Signs of Fragile X in Adult Mice

Role of JNK in FMRP Regulated Translation in Fragile X Syndrome

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

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