Fragile X Syndrome (FXS) is the most common heritable form of disability and the most prevalent known genetic cause of autism.  FXS is caused by a CGG triplet repeat expansion in the FMRI gene resulting the absence of the RNA binding protein FMRP. FMRP regulates protein synthesis at postsynaptic sites of neurons and in the absence of FMRP protein synthesis is excessive and prevents normal responses to neuronal stimulation. The mission of the Fragile X Center of Excellence is to understand the molecular pathogenesis of FXS caused by the absence of FMRP – regulated translation. The investigation into the function of FMRP as a regulator of mRNA will not only fill a major void in our understanding of  FXS pathophysiology, but will likely facilitate the development of new therapeutic interventions to treat the disease.

 

Bassell Lab   Colocalization  Bassell Science
 Klann Lab Sharma et al LTD   X Chromosome

Richter Lab

 

 

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