Article
Functional Rescue of a Misfolded Drosophila melanogaster Dopamine Transporter Mutant Associated with a Sleepless Phenotype by Pharmacological Chaperones.
The Journal of biological chemistry - 30 Sept 2016
Kasture Ameya, El-Kasaby Ali, Szöllősi Daniel, Asjad H M Mazhar, Grimm Alexandra, Stockner Thomas, Hummel Thomas, Freissmuth Michael, Sucic Sonja
Abstract excerpt
Folding-defective mutants of the human dopamine transporter (DAT) cause a syndrome of infantile dystonia/parkinsonism. Here, we provide a proof-of-principle that the folding deficit is amenable to correction in vivo by two means, the cognate DAT ligand noribogaine and the HSP70 inhibitor, pifithrin-μ. We examined the Drosophila melanogaster (d) mutant dDAT-G108Q, which leads to a sleepless phenotype in flies...
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