Journal
EMBO REPORTS
Volume 16, Issue 5, Pages 590-598Publisher
WILEY-BLACKWELL
DOI: 10.15252/embr.201439561
Keywords
glycine receptor; GlyT2; hyperekplexia; non-ketotic hyperglycinemia; D-serine
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Funding
- Israel Science Foundation
- Legacy Heritage Fund
- Allen and Jewel Prince Center for Neurodegenerative Processes of the Brain
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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 invivo. Asc-1 is a novel regulator of glycine metabolism and a candidate for hyperekplexia disorders.
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