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J Neurodev Disord. 2009 Jun;1(2):133-40. doi: 10.1007/s11689-009-9015-x. Epub 2009 May 12.

Fragile x syndrome and autism: from disease model to therapeutic targets.

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Department of Brain and Cognitive Sciences, Howard Hughes Medical Institute, The Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, MA, USA,


Autism is an umbrella diagnosis with several different etiologies. Fragile X syndrome (FXS), one of the first identified and leading causes of autism, has been modeled in mice using molecular genetic manipulation. These Fmr1 knockout mice have recently been used to identify a new putative therapeutic target, the metabotropic glutamate receptor 5 (mGluR5), for the treatment of FXS. Moreover, mGluR5 signaling cascades interact with a number of synaptic proteins, many of which have been implicated in autism, raising the possibility that therapeutic targets identified for FXS may have efficacy in treating multiple other causes of autism.

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