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Conner William Wallace on Muck Rack

Conner William Wallace

As seen in: BioRxiv
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Articles

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

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By Emma E. Russo, Ameneh Rezayof, Erin Williams, Conner William Wallace
| BioRxiv
Abstract The dopamine transporter (DAT) is an essential protein in the maintenance of dopamine homeostasis. Single amino acid changes in the DAT gene SLC6A3 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 reduction in DAT at the cell surface. In turn, proper dopaminergic regulation is lost.
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