Accession Number : AD1002910

Title :   Examination of the mGluR mTOR Pathway for the Identification of Potential Therapeutic Targets to Treat Fragile X

Descriptive Note : Technical Report,30 Sep 2014,29 Sep 2015

Corporate Author : University of Pennsylvania Perelman School of Medicine Trustees of the University of Pennsylvania Philadelphia United States

Personal Author(s) : Jongens,Thomas A

Full Text :

Report Date : 01 Oct 2015

Pagination or Media Count : 14

Abstract : Fragile X Syndrome (FXS) is a single gene disorder caused by loss of FMR1 gene function. This disease leads to cognitive impairment and is the most common genetic cause of autism, accounting for 2-6% of all diagnosed cases (Hagerman et al 2008). In previous studies of a Drosophila model for FXS, we identified pharmacological treatments that rescued phenotypes relevant to this syndrome such as social, neuroanatomical and cognitive deficits (McBride et al., 2005; Choi et al., 2010). These results have been translated to the mouse model of FXS leading to the impetus to initiate clinical trials with Fragile X patients (Yan et al., 2005; Dolen et al., 2007; de Vrij et al., 2008; Choi et al., 2011).

Descriptors :   DISEASES

Distribution Statement : APPROVED FOR PUBLIC RELEASE