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Article

Analysis of naturally occurring mutations in the human uptake transporter NaCT important for bone and brain development and energy metabolism.

Scientific reports - 27 Jul 2018

Selch Stefan, Chafai Anja, Sticht Heinrich, Birkenfeld Andreas L, Fromm Martin F, König Jörg

Abstract excerpt

The human uptake transporter NaCT is important for human brain development, brain function and energy metabolism and mediates the uptake of citrate and other intermediates of the tricarboxylic acid cycle from blood into neurons and hepatocytes. Mutations in the SLC13A5 gene encoding NaCT are associated with epileptic encephalopathy. To gain more insights into the transport mechanisms we analyzed the functional...

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Identifiers

PMID: 30054523
DOI: 10.1038/s41598-018-29547-8
PMCID: PMC6063891

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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