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SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking.

E Bowton1, C Saunders2, I A Reddy1

  • 11] Departments of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN, USA [2] Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, TN, USA.

Translational Psychiatry
|October 15, 2014
PubMed
Summary

A rare variant of the dopamine transporter (DAT), hDAT A559V, is linked to autism spectrum disorder (ASD) due to impaired trafficking. This variant disrupts dopamine regulation and presents a potential therapeutic target for ASD.

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