ArticleMolecular neuropsychiatry2015
Characterization of a Novel Mutation in SLC1A1 Associated with Schizophrenia.
Article in Molecular neuropsychiatry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 3 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 3 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review.Journal of neurodevelopmental disorders · 2025Pooled it
- A systematic review of genome-wide association studies of antipsychotic response.Pharmacogenomics · 2019Pooled it
- Genetic association and meta-analysis of a schizophrenia GWAS variant rs10489202 in East Asian populations.Translational psychiatry · 2018Pooled it
- Neurocognition and NMDAR co-agonists pathways in individuals with treatment resistant first-episode psychosis: a 3-year follow-up longitudinal study.Molecular psychiatry · 2024Article
- Hub genes, a diagnostic model, and immune infiltration based on ferroptosis-linked genes in schizophrenia.IBRO neuroscience reports · 2024Article
- Assessment of expression of calcium signaling related lncRNAs in epilepsy.Scientific reports · 2023Article
- Enhancement of Phosphorylation and Transport Activity of the Neuronal Glutamate Transporter Excitatory Amino Acid Transporter 3 by C3bot and a 26mer C3bot Peptide.Frontiers in cellular neuroscience · 2022Article
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
- Genetic Association of Epilepsy and Anti-Epileptic Drugs Treatment in Jordanian Patients.Pharmacogenomics and personalized medicine · 2020Article
- Solute Carrier Family 1 (Frontiers in psychiatry · 2020Article
- Article
- Neuronal excitatory amino acid transporter EAAT3: Emerging functions in health and disease.Neurochemistry international · 2019Article
- High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.Behavior genetics · 2018Article
- Sustained Molecular Pathology Across Episodes and Remission in Major Depressive Disorder.Biological psychiatry · 2018Article
- OCD candidate geneProceedings of the National Academy of Sciences of the United States of America · 2017Article
- Article
- The importance of the excitatory amino acid transporter 3 (EAAT3).Neurochemistry international · 2016Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
Abstract
We have recently described a hemi-deletion on chromosome 9p24.2 at the SLC1A1 gene locus and its co-segregation with schizophrenia in an extended Palauan pedigree. This finding represents a point of convergence for several pathophysiological models of schizophrenia. The present report sought to characterize the biological consequences of this hemi-deletion. Dual luciferase assays demonstrated that the partially deleted allele (lacking exon 1 and the native promoter) can drive expression of a 5'-truncated SLC1A1 using sequence upstream of exon 2 as a surrogate promoter. However, confocal microscopy and electrophysiological recordings demonstrate that the 5'-truncated SLC1A1 lacks normal membrane localization and glutamate transport ability. To identify downstream consequences of the hemi-deletion, we first used a themed qRT-PCR array to compare expression of 84 GABA and glutamate genes in RNA from peripheral blood leukocytes in deletion carriers (n = 11) versus noncarriers (n = 8) as well as deletion carriers with psychosis (n = 5) versus those without (n = 3). Then, targeted RNA-Seq (TREx) was used to quantify expression of 375 genes associated with neuropsychiatric disorders in HEK293 cells subjected to either knockdown of SLC1A1 or overexpression of full-length or 5'-truncated SLC1A1. Expression changes of several genes strongly implicated in schizophrenia pathophysiology were detected (e.g. SLC1A2, SLC1A3, SLC1A6, SLC7A11, GRIN2A, GRIA1 and DLX1).
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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.