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Article

Importance of glutamine in synaptic vesicles revealed by functional studies of SLC6A17 and its mutations pathogenic for intellectual disability.

eLife - 13 Jul 2023

Jia Xiaobo, Zhu Jiemin, Bian Xiling, Liu Sulin, Yu Sihan, Liang Wenjun, Jiang Lifen, Mao Renbo, Zhang Wenxia, Rao Yi

Abstract excerpt

Human mutations in the gene encoding the solute carrier (SLC) 6A17 caused intellectual disability (ID). The physiological role of SLC6A17 and pathogenesis of SLC6A17-based-ID were both unclear. Here, we report learning deficits in Slc6a17 knockout and point mutant mice. Biochemistry, proteomic, and electron microscopy (EM) support SLC6A17 protein localization in synaptic vesicles (SVs). Chemical analysis of SVs...

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Identifiers

PMID: 37440432
DOI: 10.7554/eLife.86972
PMCID: PMC10393021

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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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