Structure-Activity Relationships of Dopamine Transporter Pharmacological Chaperones.
Frontiers in Cellular Neuroscience 2022 Charles Sutton, Erin Q Williams, Hoomam Homsi et al. 13 citations
Mutations in the dopamine transporter gene (SLC6A3) have been implicated in many human diseases. Among these is the infantile parkinsonism-dystonia known as Dopamine Transporter Deficiency Syndrome (DTDS). Afflicted individuals have minimal to no functional dopamine transporter protein. This is primarily due to retention of misfolded disease-causing dopamine transporter variants. This results...