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Fundamental Themes in Neuroscience - Kimberly Huber

October 30, 2014 - 12:00pm to 1:00pm
Clark Center Auditorium

Admission is free and open to all.

 

Regulation of synapse and circuit function by fragile X mental retardation protein

 

Kimberly Huber, PhD

 

Professor of Neuroscience, UT Southwestern Medical Center

Host: Lu Chen

Abstract

Fragile X Syndrome is the most common inherited form of intellectual disability and a leading genetic cause of autism.  FXS is caused by transcriptional silencing of the Fmr1 gene that encodes an RNA binding protein, FMRP.  Of the 1000 mRNAs that FMRP binds, about 1/3 encode synaptic proteins suggesting it functions as a major regulator of synapses.  Consequently, FXS is characterized by alterations in synapse and circuit function.  We have identified multiple roles for FMRP in regulation of synapses, including synapse formation, elimination and synaptic plasticity.  I will discuss our recent progress in understanding the role of FMRP in cortical synaptic function and how this may lead to altered circuit function and behaviors associated with FXS.

Event Sponsor: 
Stanford Neurosciences Institute
Contact Email: 
neuroscience@stanford.edu
Contact Phone: 
(650) 497-8019

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