Associated Papers
Accelerated osteocytic citrate production in chronic kidney disease is associated with protection of the kidney.
Har JRG et al.
Biorxiv : the Preprint Server for Biology, 2025
Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder.
Ozlu C et al.
Developmental Medicine and Child Neurology, 2025
Large-scale experimental assessment of variant effects on the structure and function of the citrate transporter SLC13A5.
Wang WA et al.
Science Advances, 2025
Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.
Cunningham JL et al.
Developmental Neuroscience, 2025
Unraveling neuroimaging insights in developmental epileptic encephalopathy type 25: a comprehensive review of reported cases and a novel SLC13A5 variant.
Mohammadi MF et al.
Acta Neurologica Belgica, 2024
Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.
Alsemari A et al.
Pediatric Neurology, 2024
Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system.
Spelbrink EM et al.
Frontiers in Genetics, 2023
Growth and Overall Health of Patients with SLC13A5 Citrate Transporter Disorder.
Brown TL et al.
Metabolites, 2021
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
Consequences of NaCT/SLC13A5/mINDY deficiency: good versus evil, separated only by the blood-brain barrier.
Kopel JJ et al.
The Biochemical Journal, 2021
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi S et al.
Epilepsia, 2020
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Alaimo JT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Bainbridge MN et al.
Molecular Genetics and Metabolism, 2017
Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery MK et al.
Genome Medicine, 2017
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
Schossig A et al.
Journal of Medical Genetics, 2017
Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder.
Yang QZ et al.
Child Neurology Open, 0