ArticleAmerican journal of human genetics2016
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 40 citations in OpenAlex.
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy.Journal of human genetics · 2026Article
- Glycine transport inhibitors for the treatment of chronic pain conditions: the time is ripe for clinical evaluation!Frontiers in molecular neuroscience · 2026Article
- Case Report: Neonatal lethality caused by novel compound heterozygous missense variants ofFrontiers in pediatrics · 2026Article
- Changes in glycinergic neurotransmission alter mammalian retinal information processing.Frontiers in molecular neuroscience · 2025Article
- Inherited metabolic epilepsies-established diseases, new approaches.Epilepsia open · 2024Review
- Impaired glycine neurotransmission causes adolescent idiopathic scoliosis.The Journal of clinical investigation · 2024Article
- Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.Journal of medical genetics · 2022Article
- Synergistic Control of Transmitter Turnover at Glycinergic Synapses by GlyT1, GlyT2, and ASC-1.International journal of molecular sciences · 2022Review
- Identification of amacrine neurons with a glycinergic and GABAergic phenotype in the mouse retina.Medical research archives · 2022Article
- A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.Ophthalmic genetics · 2021Article
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
- SLC6A20 transporter: a novel regulator of brain glycine homeostasis and NMDAR function.EMBO molecular medicine · 2021Article
- Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia.Scientific reports · 2021Article
- Do damaging variants of SLC6A9, the gene for the glycine transporter 1 (GlyT-1), protect against schizophrenia?Psychiatric genetics · 2020Article
- Amino Acid Transport Defects in Human Inherited Metabolic Disorders.International journal of molecular sciences · 2019Review
- Glycine Transporter 1 Encephalopathy From Biochemical Pathway to Clinical Disease: Review.Child neurology open · 2019Review
- Inborn errors of metabolism.Handbook of clinical neurology · 2019Review
- Synaptic metabolism: a new approach to inborn errors of neurotransmission.Journal of inherited metabolic disease · 2018Review
- Pathogenic variants in glutamyl-tRNANature communications · 2018Article
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycine is a major neurotransmitter that activates inhibitory glycine receptors and is a co-agonist for excitatory glutamatergic N-methyl-D-aspartate (NMDA) receptors. Two transporters, GLYT1 and GLYT2, regulate extracellular glycine concentrations within the CNS. Dysregulation of the extracellular glycine has been associated with hyperekplexia and nonketotic hyperglycinemia. Here, we report four individuals from two families who presented at birth with facial dysmorphism, encephalopathy, arthrogryposis, hypotonia progressing to hypertonicity with startle-like clonus, and respiratory failure. Only one individual survived the respiratory failure and was weaned off ventilation but has significant global developmental delay. Mildly elevated cerebrospinal fluid (CSF) glycine and normal serum glycine were observed in two individuals. In both families, we identified truncating mutations in SLC6A9, encoding GLYT1. We demonstrate that pharmacologic or genetic abolishment of GlyT1 activity in mice leads to mildly elevated glycine in the CSF but not in blood. Additionally, previously reported slc6a9-null mice and zebrafish mutants also display phenotypes consistent with the affected individuals we examined. Our data suggest that truncating SLC6A9 mutations lead to a distinct human neurological syndrome hallmarked by mildly elevated CSF glycine and normal serum glycine.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.