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Article

Breaking the rules of SLC6 transporters: Export of the human creatine transporter-1 from the endoplasmic reticulum is supported by its N-terminus.

Journal of neurochemistry - 1 Sept 2024

Ün Didem, Kovalchuk Vasylyna, El-Kasaby Ali, Kasture Ameya, Koban Florian, Kudlacek Oliver, Freissmuth Michael, Sucic Sonja

Abstract excerpt

Mutations in the human creatine transporter 1 (CRT1/SLC6A8) cause the creatine transporter deficiency syndrome, which is characterized by intellectual disability, epilepsy, autism, and developmental delay. The vast majority of mutations cause protein misfolding and hence reduce cell surface expression. Hence, it is important to understand the molecular machinery supporting folding and export of CRT1 from the...

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PMID: 38419374
DOI: 10.1111/jnc.16088

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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