Article
Pharmacochaperoning in a Drosophila model system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism.
The Journal of biological chemistry - 24 Nov 2017
Asjad H M Mazhar, Kasture Ameya, El-Kasaby Ali, Sackel Michael, Hummel Thomas, Freissmuth Michael, Sucic Sonja
Abstract excerpt
Point mutations in the gene encoding the human dopamine transporter (hDAT, SLC6A3) cause a syndrome of infantile/juvenile dystonia and parkinsonism. To unravel the molecular mechanism underlying these disorders and investigate possible pharmacological therapies, here we examined 13 disease-causing DAT mutants that were retained in the endoplasmic reticulum when heterologously expressed in HEK293 cells. In three...
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