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Plasma Membrane Na⁺-Coupled Citrate Transporter (SLC13A5) and Neonatal Epileptic Encephalopathy.
Bhutia YD, Kopel JJ, Lawrence JJ, Neugebauer V, Ganapathy V. Bhutia YD, et al. Molecules. 2017 Feb 28;22(3):378. doi: 10.3390/molecules22030378. Molecules. 2017. PMID: 28264506 Free PMC article. Review.
Human SLC13A5 differs from rodent Slc13a5 in two important aspects: the affinity of the human transporter for citrate is ~30-fold less than that of the rodent transporter, thus making human SLC13A5 a low-affinity/high-capacity transporter and the rodent Sl
Human SLC13A5 differs from rodent Slc13a5 in two important aspects: the affinity of the human transporter for citrate is ~30-f …
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. Schossig A, et al. J Med Genet. 2017 Jan;54(1):54-62. doi: 10.1136/jmedgenet-2016-103988. Epub 2016 Sep 6. J Med Genet. 2017. PMID: 27600704 Clinical Trial.
Dental histological investigations were performed on teeth from individuals with SLC13A5-associated and ROGDI-associated KTZS. ...CONCLUSIONS: We conclude that SLC13A5 is the second major gene associated with the clinical diagnosis of KTZS, characterised by neonatal …
Dental histological investigations were performed on teeth from individuals with SLC13A5-associated and ROGDI-associated KTZS. ...CON …
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Bainbridge MN, et al. Mol Genet Metab. 2017 Aug;121(4):314-319. doi: 10.1016/j.ymgme.2017.06.009. Epub 2017 Jun 24. Mol Genet Metab. 2017. PMID: 28673551
RESULTS: Distinctive 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: …
RESULTS: Distinctive elevations of citrate and dysregulation of citric acid cycle intermediates, supporting the hypothesis that loss of S
Extending the use of stiripentol to SLC13A5-related epileptic encephalopathy.
Alhakeem A, Alshibani F, Tabarki B. Alhakeem A, et al. Brain Dev. 2018 Oct;40(9):827-829. doi: 10.1016/j.braindev.2018.05.020. Epub 2018 Jun 9. Brain Dev. 2018. PMID: 29895383
INTRODUCTION: SLC13A5-related epileptic encephalopathy is a recently described autosomal recessive disorder that is characterized by infantile epilepsy and developmental delay. ...METHODS AND RESULTS: We report the use of stiripentol as an adjunctive therapy in three sibli …
INTRODUCTION: SLC13A5-related epileptic encephalopathy is a recently described autosomal recessive disorder that is characterized by …
Inhibition of citrate cotransporter Slc13a5/mINDY by RNAi improves hepatic insulin sensitivity and prevents diet-induced non-alcoholic fatty liver disease in mice.
Brachs S, Winkel AF, Tang H, Birkenfeld AL, Brunner B, Jahn-Hofmann K, Margerie D, Ruetten H, Schmoll D, Spranger J. Brachs S, et al. Mol Metab. 2016 Aug 13;5(11):1072-1082. doi: 10.1016/j.molmet.2016.08.004. eCollection 2016 Nov. Mol Metab. 2016. PMID: 27818933 Free PMC article.
Citrate uptake modifies intracellular hepatic energy metabolism and is controlled by the conserved sodium-dicarboxylate cotransporter solute carrier family 13 member 5 (SLC13A5, mammalian homolog of INDY: mINDY). ...Genetic deletion of Slc13a5 in mice protected from …
Citrate uptake modifies intracellular hepatic energy metabolism and is controlled by the conserved sodium-dicarboxylate cotransporter solute …
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. Li Z, et al. J Biol Chem. 2017 Aug 18;292(33):13890-13901. doi: 10.1074/jbc.M117.783860. Epub 2017 Jun 27. J Biol Chem. 2017. PMID: 28655760 Free PMC article.
Recent evidence has revealed that SLC13A5 deletion protects mice from high-fat diet-induced hepatic steatosis and that mutation of the SLC13A5 orthologues in Drosophila melanogaster and Caenorhabditis elegans promotes longevity. However, despite the emerging importa …
Recent evidence has revealed that SLC13A5 deletion protects mice from high-fat diet-induced hepatic steatosis and that mutation of th …
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. Li L, et al. Mol Pharmacol. 2015 Apr;87(4):674-82. doi: 10.1124/mol.114.097287. Epub 2015 Jan 27. Mol Pharmacol. 2015. PMID: 25628225 Free PMC article.
Here, we show that the SLC13A5 gene is a novel transcriptional target of PXR, and altered expression of SLC13A5 affects lipid accumulation in human liver cells. The prototypical PXR activator rifampicin markedly induced the mRNA and protein expression of SLC13A5
Here, we show that the SLC13A5 gene is a novel transcriptional target of PXR, and altered expression of SLC13A5 affects lipid …
State-Dependent Allosteric Inhibition of the Human SLC13A5 Citrate Transporter by Hydroxysuccinic Acids, PF-06649298 and PF-06761281.
Rives ML, Shaw M, Zhu B, Hinke SA, Wickenden AD. Rives ML, et al. Mol Pharmacol. 2016 Dec;90(6):766-774. doi: 10.1124/mol.116.106575. Epub 2016 Oct 17. Mol Pharmacol. 2016. PMID: 27754898
In the liver, citrate is a key metabolic intermediate involved in the regulation of glycolysis and lipid synthesis and reduced expression of the hepatic citrate SLC13A5 transporter has been shown to improve metabolic outcomes in various animal models. Although inhibition o …
In the liver, citrate is a key metabolic intermediate involved in the regulation of glycolysis and lipid synthesis and reduced expression of …
Defective enamel and bone development in sodium-dependent citrate transporter (NaCT) Slc13a5 deficient mice.
Irizarry AR, Yan G, Zeng Q, Lucchesi J, Hamang MJ, Ma YL, Rong JX. Irizarry AR, et al. PLoS One. 2017 Apr 13;12(4):e0175465. doi: 10.1371/journal.pone.0175465. eCollection 2017. PLoS One. 2017. PMID: 28406943 Free PMC article.
Furthermore, Slc13a5 deficiency led to decreased bone mineral density and impaired bone formation in 13-week-old mice but not in older mice. The findings revealed the potentially important role of citrate and Slc13a5 in the development and function of teeth and bone …
Furthermore, Slc13a5 deficiency led to decreased bone mineral density and impaired bone formation in 13-week-old mice but not in olde …
Molecular characterization, tissue expression profile, and SNP analysis of porcine SLC13A5.
Wang LY, Jiang J, Ma HM. Wang LY, et al. Genet Mol Res. 2015 Dec 7;14(4):16090-101. doi: 10.4238/2015.December.7.21. Genet Mol Res. 2015. PMID: 26662401 Free article.
Full-length porcine SLC13A5 cDNA was 2118 bp, with a 1665-bp open reading frame encoding 554 amino acids. The porcine SLC13A5 protein was analyzed using bioinformatic methodology, and found to include 18 potential phosphorylation sites (including six serine, nine th …
Full-length porcine SLC13A5 cDNA was 2118 bp, with a 1665-bp open reading frame encoding 554 amino acids. The porcine SLC13A5
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