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Article

SLC6 Transporter Folding Diseases and Pharmacochaperoning.

Handbook of experimental pharmacology - 1 Jan 2018

Freissmuth Michael, Stockner Thomas, Sucic Sonja

Abstract excerpt

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 infantile dystonia, mental...

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Identifiers

PMID: 29086036
DOI: 10.1007/164_2017_71

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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