The mTOR Pathway and other Protein Translation Pathways in Fragile X Syndrome
Eric Klann, PhD
Principal Investigator
Aditi Bhattacharya, PhD
FRAXA Fellow 2011-2012, 2015-2017
Hanoch Kaphzan, MD, PhD
FRAXA Fellow 2008-2010
Lingfei Hou, PhD
FRAXA Fellow 2004-2005
New York University
New York, NY
2015-2017 Grant Funding: $149,900
2011-2012 Grant Funding: $90,000
2008-2009 Grant Funding: $110,000
2003-2006 Grant Funding: $237,000
Summary
Dr. Eric Klann and Postdoctoral Fellows funded by FRAXA investigated alterations in protein translation pathways which underly Fragile X syndrome.
The Science
Targeting of S6K1 to Reverse Phenotypes in FXS Model Mice
Over 2011-2013, Drs. Klann and Bhattacharya examined the mTor pathway in Fragile X – which is also known to be defective in several forms of autism. Their work was published in September 2012 and received international attention.
A new method – genetically reducing S6K1 – has reduced several social, behavioral, and physical problems associated with Fragile X syndrome in mice. “We think these results set the stage for a viable pharmacological approach to target S6K1, with the aim of diminishing or even reversing the afflictions associated with Fragile X syndrome,” says Eric Klann. See NYU press release
2008-2010 Targeting of Translational Control Proteins to Reverse Phenotypes in Fragile X
with Postdoctoral Fellow Hanoch Kaphzan, MD, PhD
2003-2005 mGluR-dependent protein translation in transgenic mice
with Postdoctoral Fellow Lingfei Hou, PhD (2004-2005)
