Abstract
Asc-1 (SLC7A10) is an amino acid transporter whose deletion causes neurological abnormalities and early postnatal death in mice. Using metabolomics and behavioral and electrophysiological methods, we demonstrate that Asc-1 knockout mice display a marked decrease in glycine levels in the brain and spinal cord along with impairment of glycinergic inhibitory transmission, and a hyperekplexia-like phenotype that is rescued by replenishing brain glycine. Asc-1 works as a glycine and L-serine transporter, and its transport activity is required for the subsequent conversion of L-serine into glycine in vivo. Asc-1 is a novel regulator of glycine metabolism and a candidate for hyperekplexia disorders.
| Original language | English |
|---|---|
| Pages (from-to) | 590-598 |
| Number of pages | 9 |
| Journal | EMBO Reports |
| Volume | 16 |
| Issue number | 5 |
| DOIs | |
| State | Published - 1 May 2015 |
| Externally published | Yes |
Bibliographical note
Publisher Copyright:© 2015 The Authors.
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Keywords
- D-serine
- GlyT2
- glycine receptor
- hyperekplexia
- non-ketotic hyperglycinemia
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Genetics
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