Article

Characterization of a novel mouse model of Dopamine Transporter Deficiency Syndrome and pharmacological therapeutic strategies

2025-03-25

Abstract excerpt

The dopamine transporter (DAT) is an essential protein in the maintenance of dopamine homeostasis in the brain. Thus, single amino acid changes in the gene that encodes for DAT can be sufficient to induce disease, such as Dopamine Transporter Deficiency Syndrome (DTDS). DTDS-associated variants are posited to cause DAT protein misfolding, retention in the endoplasmic reticulum, and a consequent depletion or loss o...

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Literature Corpus work: 1f2d4cb6-204c-5ee9-a97a-552c887cd0d2
DOI: 10.1101/2025.03.21.644417

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