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When transporters fail to be transported: how to rescue folding-deficient SLC6 transporters

The human dopamine transporter (hDAT) belongs to the solute carrier 6 (SLC6) gene family. Point mutations in hDAT (SLC6A3) have been linked to a syndrome of dopamine transporter deficiency or infantile dystonia/parkinsonism. The mutations impair DAT folding, causing retention of variant DATs in the...

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Detalles Bibliográficos
Autores principales: Sucic, Sonja, Kasture, Ameya, Mazhar Asjad, H. M., Kern, Carina, El-Kasaby, Ali, Freissmuth, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386142/
https://www.ncbi.nlm.nih.gov/pubmed/28405636