Article
SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking.
Translational psychiatry - 14 Oct 2014
Bowton E, Saunders C, Reddy I A, Campbell N G, Hamilton P J, Henry L K, Coon H, Sakrikar D, Veenstra-VanderWeele J M, Blakely R D, Sutcliffe J, Matthies H J G, Erreger K, Galli A
Abstract excerpt
Emerging evidence associates dysfunction in the dopamine (DA) transporter (DAT) with the pathophysiology of autism spectrum disorder (ASD). The human DAT (hDAT; SLC6A3) rare variant with an Ala to Val substitution at amino acid 559 (hDAT A559V) was previously reported in individuals with bipolar disorder or attention-deficit hyperactivity disorder (ADHD). We have demonstrated that this variant is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.