Identification of Fragile X Syndrome Specific Molecular Markers in Human Fibroblasts: A Useful Model to Test the Efficacy of Therapeutic Drugs. Issue 12 (December 2014)

• Record Type: Journal Article
• Authors: Kumari, Daman; Bhattacharya, Aditi; Nadel, Jeffrey; Moulton, Kristen; Zeak, Nicole M.; Glicksman, Anne; Dobkin, Carl; Brick, David J.; Schwartz, Philip H.; Smith, Carolyn B.; Klann, Eric; Usdin, Karen
• Is Part Of: Human mutation. Volume 35:Issue 12(2014:Dec.)
• Page Start: 1485
• Page End: 1494
• Publication Date: 2014-12
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22699
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22699-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We show that primary fibroblasts from fragile X syndrome (FXS) patients have elevated rates of protein synthesis and increased levels of translational regulators, p‐mTOR and p‐S6K1. Treatment with inhibitors of S6K1 and PI3K reduces rates of protein synthesis in these cells. Our data suggest that primary fibroblasts from FXS patients can be a useful cell‐based model for high‐throughput drug screens, evaluation of potential therapeutic compounds and designing personalized treatment approaches. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh2cpxhwv1" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>