ArticleMolecular genetics and metabolism2017
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Article in Molecular genetics and metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 41 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
SLC13A5 Deficiency: a Prospective Natural History Study - Remote Only (International)
SLC13A5 Deficiency: A Prospective Natural History Study - United States Only
Who cites it
41 citing papers in PubMed, 60 citations in OpenAlex.
- The Odd Couple: Replacement Therapy for Citrate Transporter Deficiency in the Brain and the Liver.Epilepsy currents · 2026Article
- Solute carrier membrane transporters: emerging targets in CNS disorders.Nature reviews. Drug discovery · 2026Review
- Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?Journal of neuroscience research · 2026Review
- Discovery and Characterization of a Nonacidic Small-Molecule Inhibitor of the Sodium-Coupled Dicarboxylate Transporter NaCT.Journal of medicinal chemistry · 2026Article
- AAV-mediated gene therapy in a model of SLC13A5 citrate transporter disorder rescues epileptic and metabolic phenotypes.The Journal of clinical investigation · 2026Article
- Epileptogenesis and Epilepsy Treatment: Advances in Mechanistic Understanding, Therapeutic Approaches, and Future Perspectives.International journal of molecular sciences · 2026Review
- A genetic driver of epileptic encephalopathy impairs gating of synaptic glycolysis.bioRxiv : the preprint server for biology · 2025Article
- Modulation of NMDA receptor signaling and zinc chelation prevent seizure-like events in a zebrafish model of SLC13A5 epilepsy.PLoS biology · 2025Article
- Multi-omics integration reveals gut microbiota dysbiosis and metabolic alterations of cerebrospinal fluid in children with epilepsy.Frontiers in microbiology · 2025Article
- Neuroglia and brain energy metabolism.Handbook of clinical neurology · 2025Review
- Article
- Novel Approaches to Studying SLC13A5 Disease.Metabolites · 2024Review
- An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism.Molecular genetics and metabolism · 2024Review
- The citrate transporter SLC13A5 as a therapeutic target for kidney disease: evidence from Mendelian randomization to inform drug development.BMC medicine · 2023Article
- Targeting Longevity GeneMetabolites · 2023Article
- Mapping the Metabolic Niche of Citrate Metabolism andMetabolites · 2023Review
- Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system.Frontiers in genetics · 2023Article
- Review
- The metabolic basis of epilepsy.Nature reviews. Neurology · 2022Review
- The profile of gut microbiota and central carbon-related metabolites in primary angle-closure glaucoma patients.International ophthalmology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveTo interrogate the metabolic profile of five subjects from three families with rare, nonsense and missense mutations in SLC13A5 and Early Infantile Epileptic Encephalopathies (EIEE) characterized by severe, neonatal onset seizures, psychomotor retardation and global developmental delay.
methodsMass spectrometry of plasma, CSF and urine was used to identify consistently dysregulated analytes in our subjects.
resultsDistinctive elevations of citrate and dysregulation of citric acid cycle intermediates, supporting the hypothesis that loss of SLC13A5 function alters tricarboxylic acid cycle (TCA) metabolism and may disrupt metabolic compartmentation in the brain. SIGNIFICANCE: Our results indicate that analysis of plasma citrate and other TCA analytes in SLC13A5 deficient patients define a diagnostic metabolic signature that can aid in diagnosing children with this disease.
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What OpenQuestion holds
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.