Structural, functional, and behavioral insights of dopamine dysfunction revealed by a deletion in SLC6A3.

doi:10.1073/pnas.1816247116

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Article

Structural, functional, and behavioral insights of dopamine dysfunction revealed by a deletion in SLC6A3.

Proceedings of the National Academy of Sciences of the United States of America - 26 Feb 2019

Campbell Nicholas G, Shekar Aparna, Aguilar Jenny I, Peng Dungeng, Navratna Vikas, Yang Dongxue, Morley Alexander N, Duran Amanda M, Galli Greta, O'Grady Brian, Ramachandran Ramnarayan, Sutcliffe James S, Sitte Harald H, Erreger Kevin, Meiler Jens, Stockner Thomas, Bellan Leon M, Matthies Heinrich J G, Gouaux Eric, Mchaourab Hassane S, Galli Aurelio

Abstract excerpt

The human dopamine (DA) transporter (hDAT) mediates clearance of DA. Genetic variants in hDAT have been associated with DA dysfunction, a complication associated with several brain disorders, including autism spectrum disorder (ASD). Here, we investigated the structural and behavioral bases of an ASD-associated in-frame deletion in hDAT at N336 (∆N336). We uncovered that the deletion promoted a previously...

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Identifiers

PMID: 30755521
DOI: 10.1073/pnas.1816247116
PMCID: PMC6397532

Genes

SLC6A3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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