amyloid precursor protein Archives • Fragile X Research

Fragile X Syndrome and Air Travel

FRAXA Research Foundation Advocacy • Community August 19, 2021August 19, 2021amyloid precursor protein

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Drug Duo Delivers Brain, Behavioral Benefits for Fragile X Syndrome

Spectrum FRAXA Updates November 8, 2018March 17, 2021amyloid precursor protein, autism, CBD, lovastatin, minocycline, seizure

Administering a cholesterol drug alongside an antibiotic eases atypical behavior and restores the signaling balance in the brains of people with fragile X syndrome.

Crossroads of Fragile X and Alzheimers Research

FRAXA Research Foundation Research Updates July 20, 2015December 26, 2019Alzheimer's, amyloid precursor protein, autism

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.

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

Students at WPI helping FRAXA Research Foundation

FRAXA Research Foundation Community December 22, 2014December 26, 2019amyloid precursor protein

Undergraduate students at Worcester Polytechnic Institute (WPI) complete what is known as the Interactive Qualifying Project (IQP). Student groups work closely with local or national sponsors during their junior year to complete a project that benefits their community. Two student groups from WPI are working with FRAXA to provide research-based improvements to the FRAXA.org website, and to develop a mobile FRAXA app.

Fragile X Student teams at WPI help FRAXA Research Foundation

Ab-Mediated Translation in Fragile X Syndrome

FRAXA Research Foundation 2011 Grants • 2012 Grants • Biomarkers • Research Grant Results • Treatment Targets • University of Wisconsin • Westmark, Cara September 13, 2012January 29, 2021Alzheimer's, amyloid precursor protein, LTD (Long-term depression), mGluR5, mRNAs, NIH, seizure

With a $120,000 grant from FRAXA Research Foundation during 2011-2012, Dr. Cara Westmark at the University of Wisconsin explored the role of AbPP as a potential treatment option for fragile X. AbPP produces b-amyloid which is over-expressed in Alzheimer’s disease (AD) and Down syndrome.

Fragile X Researcher, Cara Westmark, PhD

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

Michael Tranfaglia, MD Research Updates April 13, 2012December 12, 2019Alzheimer's, amyloid precursor protein, autism, drug tolerance, glutamate, hypersensitivity, mGluR, mGluR5, Roche, sound

A study finds that a new compound reverses many of the major symptoms associated with Fragile X syndrome (FXS). The paper is published in the April 12 issue of the journal Neuron, describing the exciting observation that the FXS correction can occur in adult mice, after the symptoms of the condition have already been established. Previous research has suggested that inhibition of mGlu5, a subtype of receptor for the excitatory neurotransmitter glutamate, may ameliorate many of the major symptoms of the disease. This study, a collaboration between a group at Roche in Switzerland, led by Dr. Lothar Lindemann, and Dr. Mark Bear’s MIT lab, used an mGlu5 inhibitor called CTEP to examine whether inhibition of mGlu5 could reverse FXS symptoms.

Role of JNK in FMRP Regulated Translation in Fragile X Syndrome

FRAXA Research Foundation 2011 Grants • 2012 Grants • Disease Mechanisms • Research Grant Results • Treatment Targets • University of Wisconsin • Wilhelm, Michael January 31, 2012May 25, 2020Alzheimer's, amyloid precursor protein, mGluR, mGluR5, mRNAs, NIH

With a $90,000 grant from FRAXA Research Foundation over 2 years, Dr. Michael Wilhelm and his team at the University of Wisconsin studied a protein known as JNK, which is observed to be abnormally regulated in Fragile X. Like FMRP, it is involved in regulating dendritic protein synthesis, and so it may be a target for drug therapy in Fragile X.

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

FRAXA Research Foundation 2006-2010 Grants • Completed Research Grants • Malter, James • Treatment Targets • University of Wisconsin • Westmark, Cara February 14, 2008December 12, 2019Alzheimer's, Amyloid beta, amyloid precursor protein, fenobam, mGluR5, mRNAs, seizure

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.