| Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy. | Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.
Alsemari A, Guzmán-Vega FJ, Meyer BF, Arold ST. | 01/17/2024 |
| The citrate transporters SLC13A5 and SLC25A1 elicit different metabolic responses and phenotypes in the mouse. | The citrate transporters SLC13A5 and SLC25A1 elicit different metabolic responses and phenotypes in the mouse.
Fernandez-Fuente G, Overmyer KA, Lawton AJ, Kasza I, Shapiro SL, Gallego-Muñoz P, Coon JJ, Denu JM, Alexander CM, Puglielli L., Free PMC Article | 09/13/2023 |
| NaCT/SLC13A5 facilitates citrate import and metabolism under nutrient-limited conditions. | NaCT/SLC13A5 facilitates citrate import and metabolism under nutrient-limited conditions.
Kumar A, Cordes T, Thalacker-Mercer AE, Pajor AM, Murphy AN, Metallo CM., Free PMC Article | 02/19/2022 |
| A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. | A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Duan R, Saadi NW, Grochowski CM, Bhadila G, Faridoun A, Mitani T, Du H, Fatih JM, Jhangiani SN, Akdemir ZC, Gibbs RA, Pehlivan D, Posey JE, Marafi D, Lupski JR., Free PMC Article | 01/8/2022 |
| Regulation on Citrate Influx and Metabolism through Inhibiting SLC13A5 and ACLY: A Novel Mechanism Mediating the Therapeutic Effects of Curcumin on NAFLD. | Regulation on Citrate Influx and Metabolism through Inhibiting SLC13A5 and ACLY: A Novel Mechanism Mediating the Therapeutic Effects of Curcumin on NAFLD.
Sun Q, Niu Q, Guo Y, Zhuang Y, Li X, Liu J, Li N, Li Z, Huang F, Qiu Z. | 08/14/2021 |
| Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report. | Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report.
Arvio M, Lähdetie J. | 06/26/2021 |
| Consequences of NaCT/SLC13A5/mINDY deficiency: good versus evil, separated only by the blood-brain barrier. | Consequences of NaCT/SLC13A5/mINDY deficiency: good versus evil, separated only by the blood-brain barrier.
Kopel JJ, Bhutia YD, Sivaprakasam S, Ganapathy V., Free PMC Article | 06/19/2021 |
| Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene. | Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi S, De Liso P, Freri E, Costa P, Castellotti B, Magri S, Gellera C, Granata T, Musante L, Lesca G, Oertel J, Craiu D, Hammer TB, Møller RS, Barisic N, Abou Jamra R, Polster T, Vigevano F, Marini C. | 04/17/2021 |
| Structure and inhibition mechanism of the human citrate transporter NaCT. | Structure and inhibition mechanism of the human citrate transporter NaCT.
Sauer DB, Song J, Wang B, Hilton JK, Karpowich NK, Mindell JA, Rice WJ, Wang DN., Free PMC Article | 04/13/2021 |
| A dynamic anchor domain in slc13 transporters controls metabolite transport. | A dynamic anchor domain in slc13 transporters controls metabolite transport.
Khamaysi A, Aharon S, Eini-Rider H, Ohana E., Free PMC Article | 01/2/2021 |
| We demonstrated that all proteins were synthesized with an identical molecular weight as the wild-type transporter but several mutations (NaCTp.G219R, -p.G219E, -p.T227M, -p.L420P and -p.L488P) lead to a complete loss of NaCT-mediated citrate transport. This loss of transport activity can be explained on the basis of the developed structural model. | Analysis of naturally occurring mutations in the human uptake transporter NaCT important for bone and brain development and energy metabolism.
Selch S, Chafai A, Sticht H, Birkenfeld AL, Fromm MF, König J., Free PMC Article | 10/26/2019 |
| SLC13A5 is the second major gene associated with the clinical diagnosis of KTZS. | SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
Schossig A, Bloch-Zupan A, Lussi A, Wolf NI, Raskin S, Cohen M, Giuliano F, Jurgens J, Krabichler B, Koolen DA, de Macena Sobreira NL, Maurer E, Muller-Bolla M, Penzien J, Zschocke J, Kapferer-Seebacher I. | 11/4/2017 |
| Data suggest that SLC13A5 plays a role in progression/cell proliferation of human hepatocellular carcinoma cells; here, RNA interference using shRNA against SLC13A5 decreased tumor burden in treatment of hepatocarcinoma in a xenograft tumor model in nude mice. | Silencing of solute carrier family 13 member 5 disrupts energy homeostasis and inhibits proliferation of human hepatocarcinoma cells.
Li Z, Li D, Choi EY, Lapidus R, Zhang L, Huang SM, Shapiro P, Wang H., Free PMC Article | 09/9/2017 |
| Data suggest that SLC13A5 plays a role in progression/proliferation of human hepatocellular carcinoma cells; RNA interference using shRNA against SLC13A5 decreased tumor burden in treatment of hepatocarcinoma in a xenograft tumor model in nude mice. [REVIEW] | Flipping a citrate switch on liver cancer cells.
Peters JM., Free PMC Article | 09/9/2017 |
| Study identified additional SLC13A5 mutations in patients with chronic epilepsy starting in the neonatal period, with the mutations producing inactive Na+/citrate transporters. | Mutations in the Na(+)/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay.
Klotz J, Porter BE, Colas C, Schlessinger A, Pajor AM., Free PMC Article | 09/2/2017 |
| Studies show that SLC13A5 is a transporter in the plasma membrane that mediates the uptake of citrate into cells. It is expressed in hepatocytes, neurons, and spermatozoa. Its loss-of-function mutations are associated with neonatal epilepsy in humans. This is a single-gene disease with epilepsy resulting solely from the inactivity of SLC13A5. [review] | Plasma Membrane Na⁺-Coupled Citrate Transporter (SLC13A5) and Neonatal Epileptic Encephalopathy.
Bhutia YD, Kopel JJ, Lawrence JJ, Neugebauer V, Ganapathy V., Free PMC Article | 05/13/2017 |
| In infants presenting with therapy resistant seizures in the first days after birth, without a clear history of hypoxic-ischemic encephalopathy, but with Punctate White Matter Lesions on their neonatal MRI, a diagnosis of SCL13A5 related epileptic encephalopathy should be considered. | Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.
Weeke LC, Brilstra E, Braun KP, Zonneveld-Huijssoon E, Salomons GS, Koeleman BP, van Gassen KL, van Straaten HL, Craiu D, de Vries LS. | 04/15/2017 |
| Discovery and characterization of novel inhibitors of the sodium-coupled citrate transporter (NaCT or SLC13A5). | Discovery and characterization of novel inhibitors of the sodium-coupled citrate transporter (NaCT or SLC13A5).
Huard K, Brown J, Jones JC, Cabral S, Futatsugi K, Gorgoglione M, Lanba A, Vera NB, Zhu Y, Yan Q, Zhou Y, Vernochet C, Riccardi K, Wolford A, Pirman D, Niosi M, Aspnes G, Herr M, Genung NE, Magee TV, Uccello DP, Loria P, Di L, Gosset JR, Hepworth D, Rolph T, Pfefferkorn JA, Erion DM., Free PMC Article | 10/1/2016 |
| Eight patients from four families with SLC13A5 mutation are described. They have neonatal epilepsy, tooth hypoplasia, and developmental delay. | Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P, autosomal recessive working group of the EuroEPINOMICS RES Consortium. | 02/13/2016 |
| SLC13A5 is a novel target gene of PXR and may contribute to drug-induced steatosis and metabolic disorders in humans. | SLC13A5 is a novel transcriptional target of the pregnane X receptor and sensitizes drug-induced steatosis in human liver.
Li L, Li H, Garzel B, Yang H, Sueyoshi T, Li Q, Shu Y, Zhang J, Hu B, Heyward S, Moeller T, Xie W, Negishi M, Wang H., Free PMC Article | 05/30/2015 |
| Screening of 68 additional unrelated individuals with early-onset epileptic encephalopathy for SLC13A5 mutations led to identification of one additional subject with heterozygous mutations of SLC13A5 and a similar clinical presentation as index subjects | Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB., Free PMC Article | 08/30/2014 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Expression and function of NaCT in a cell line and in primary hepatocytes. | Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines.
Gopal E, Miyauchi S, Martin PM, Ananth S, Srinivas SR, Smith SB, Prasad PD, Ganapathy V. | 01/21/2010 |
| mediates the utilization of extracellular citrate for fat synthesis in human liver cells, and that the process is stimulated by lithium | Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action.
Inoue K, Zhuang L, Maddox DM, Smith SB, Ganapathy V., Free PMC Article | 01/21/2010 |
| This paper describes the cloning and functional characterization of the human Na(+)-coupled citrate transporter (NaCT). | Human Na+ -coupled citrate transporter: primary structure, genomic organization, and transport function.
Inoue K, Zhuang L, Ganapathy V. | 01/21/2010 |