Associated Papers
Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing.
Rincic M et al.
Molecular Medicine (cambridge, Mass.), 2026
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 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
Molecular Phenotypes Segregate Missense Mutations in SLC13A5 Epilepsy.
Jaramillo-Martinez V et al.
Journal of Molecular Biology, 2024
Molecular phenotypes segregate missense mutations in SLC13A5 Epilepsy.
Jaramillo-Martinez V et al.
Biorxiv : the Preprint Server for Biology, 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
A home run for human NaCT/SLC13A5/INDY: cryo-EM structure and homology model to predict transport mechanisms, inhibitor interactions and mutational defects.
Jaramillo-Martinez V et al.
The Biochemical Journal, 2021
Functional Distinction between Human and Mouse Sodium-Coupled Citrate Transporters and Its Biologic Significance: An Attempt for Structural Basis Using a Homology Modeling Approach.
Jaramillo-Martinez V et al.
Chemical Reviews, 2021
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi S et al.
Epilepsia, 2020
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.
Staněk D et al.
Orphanet Journal of Rare Diseases, 2018
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Hammarsjö A et al.
Scientific Reports, 2017
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
Schossig A et al.
Journal of Medical Genetics, 2017
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Hardies K et al.
Brain : a Journal of Neurology, 2015
Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder.
Yang QZ et al.
Child Neurology Open, 0