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Accession Number:
AD1039453
Title:
Examination of the mGluR mTOR Pathway for the Identification of Potential Therapeutic Targets To Treat Fragile X
Corporate Author:
University of Pennsylvania Philadelphia United States
Report Date:
2016-11-01
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., 2007de Vrij et al., 2008 Choi et al., 2011.
Descriptive Note:
Technical Report,30 Sep 2012,29 Aug 2016
Pages:
0018
Distribution Statement:
Approved For Public Release;
File Size:
6.57MB
