The alanine‐serine‐cysteine‐1 (Asc‐1) transporter controls glycine levels in the brain and is required for glycinergic inhibitory transmission
Open accessAbstract
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.
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SLC7A10 is a potential rare gene associated with human startle disease and developmental delay.
“Although the function of neutral amino acid transporter SLC7A10 in CNS remains to be elucidated, studies with SLC7A10 knock-out mice and dysfunctional SLC7A10 mutations reveal that SLC7A10 is a potential rare gene associated with human startle disease and developmental delay [76, 77].”
From CI-994 is a dual modulator of class I HDACs and Wnt/β-catenin signaling for the treatment of Alzheimer's disease (2026) · cites this paper as [76]
The paper’s summary states that Asc-1 (SLC7A10) is a candidate for hyperekplexia, or human startle disease, based on its knockout-mouse findings (Safory et al., summary; page unavailable). It does not report dysfunctional SLC7A10 mutations in humans or link the gene to developmental delay. (LLM, conf=0.87)
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- Authors
- Safory, H., Neame, S., Shulman, Y., Zubedat, S., Radzishevsky, I., Rosenberg, D., Sason, H., Engelender, S., Avital, A., Hülsmann, S., Schiller, J., & Wolosker, H.
- Affiliations
- Technion – Israel Institute of Technology (IL)
- Nanoscale Microscopy and Molecular Physiology of the Brain Cluster of Excellence 171 — DFG Research Center 103 (DE)
- Corresponding author
- Wolosker, Herman
- ORCID
- Venue
- The EMBO Reports
- Published
- 2015-03-09
- Volume
- 16
- Issue
- 5
- Pages
- 590-598
- ISSN
- 1469-221X (ISSN-L)
- 1469-3178
- PMC
- PMC4428048
- OpenAlex
- W2156064435
- Cited by
- 53
- References
- 33
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 2 · 2023: 4 · 2022: 5 · 2021: 7 · 2020: 3 · 2019: 5 · 2018: 4 · 2017: 4 · 2016: 9 · 2015: 3
- FWCI
- 3.33
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- EMBO Reports (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- GRO (publishedVersion)
- Funders
- Israel Science Foundation
- Legacy Heritage Fund
- Allen and Jewel Prince Center for Neurodegenerative Processes of the Brain
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- glycine transporter, glycine metabolism, L-serine, glycinergic inhibition, hyperekplexia, spinal cord, amino acid transport, knockout mice, neurological abnormalities
- MeSH terms
- Animals, Biological Transport, Brain, Genotype, Glycine, Hypoglossal Nerve, Mutation, Synaptic Transmission, Neurons, Phenotype, Serine, Receptors, Glycine, Mice, Knockout, Amino Acid Transport System y+, Mice, Metabolomics, Metabolome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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