Pharmacochaperoning in a Drosophila model system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism

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 D...

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Vydáno v:J Biol Chem
Hlavní autoři: Asjad, H. M. Mazhar, Kasture, Ameya, El-Kasaby, Ali, Sackel, Michael, Hummel, Thomas, Freissmuth, Michael, Sucic, Sonja
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2017
Témata:
Neurobiology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5702666/
https://ncbi.nlm.nih.gov/pubmed/28972153
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M117.797092
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