SLC6 Transporter Folding Diseases and Pharmacochaperoning.
Handbook of experimental pharmacology 2018 Michael Freissmuth, Thomas Stockner, Sonja Sucic 44 citations
The human genome encodes 19 genes of the solute carrier 6 (SLC6) family; non-synonymous changes in the coding sequence give rise to mutated transporters, which are misfolded and thus cause diseases in the affected individuals. Prominent examples include mutations in the transporters for dopamine (DAT, SLC6A3), for creatine (CT1, SLC6A8), and for glycine (GlyT2, SLC6A5), which result in...