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SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.
Goodspeed K, Liu JS, Nye KL, Prasad S, Sadhu C, Tavakkoli F, Bilder DA, Minassian BA, Bailey RM. Goodspeed K, et al. Genes (Basel). 2022 Sep 15;13(9):1655. doi: 10.3390/genes13091655. Genes (Basel). 2022. PMID: 36140822 Free PMC article. Review.
One such example is the epileptic encephalopathy SLC13A5 deficiency disorder, which is caused by loss of function pathogenic variants to the gene SLC13A5 that results in deficiency of the sodium/citrate cotransporter. ...Here, we discuss SLC13A5 genetics, nat …
One such example is the epileptic encephalopathy SLC13A5 deficiency disorder, which is caused by loss of function pathogenic variants …
Molecular Mechanisms of the SLC13A5 Gene Transcription.
Li Z, Wang H. Li Z, et al. Metabolites. 2021 Oct 15;11(10):706. doi: 10.3390/metabo11100706. Metabolites. 2021. PMID: 34677420 Free PMC article. Review.
SLC13A5 has been proposed as a promising therapeutic target for the treatment of these metabolic disorders. ...Nevertheless, in comparison to the heightened interest in understanding the biological function and clinical relevance of SLC13A5, studies focusing on the …
SLC13A5 has been proposed as a promising therapeutic target for the treatment of these metabolic disorders. ...Nevertheless, in compa …
The citrate transporter SLC13A5 as a therapeutic target for kidney disease: evidence from Mendelian randomization to inform drug development.
Gill D, Zagkos L, Gill R, Benzing T, Jordan J, Birkenfeld AL, Burgess S, Zahn G. Gill D, et al. BMC Med. 2023 Dec 18;21(1):504. doi: 10.1186/s12916-023-03227-5. BMC Med. 2023. PMID: 38110950 Free PMC article.
BACKGROUND: Solute carrier family 13 member 5 (SLC13A5) is a Na(+)-coupled citrate co-transporter that mediates entry of extracellular citrate into the cytosol. SLC13A5 inhibition has been proposed as a target for reducing progression of kidney disease. ...
BACKGROUND: Solute carrier family 13 member 5 (SLC13A5) is a Na(+)-coupled citrate co-transporter that mediates entry of extracellula …
Consequences of NaCT/SLC13A5/mINDY deficiency: good versus evil, separated only by the blood-brain barrier.
Kopel JJ, Bhutia YD, Sivaprakasam S, Ganapathy V. Kopel JJ, et al. Biochem J. 2021 Feb 12;478(3):463-486. doi: 10.1042/BCJ20200877. Biochem J. 2021. PMID: 33544126 Free PMC article. Review.
Deletion of Slc13a5 in mice leads to an advantageous phenotype, protecting against diet-induced obesity, and diabetes. ...These beneficial versus detrimental effects of SLC13A5 deficiency are separable only by the blood-brain barrier. Can we harness the beneficial e …
Deletion of Slc13a5 in mice leads to an advantageous phenotype, protecting against diet-induced obesity, and diabetes. ...These benef …
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. Fernandez-Fuente G, et al. Commun Biol. 2023 Sep 9;6(1):926. doi: 10.1038/s42003-023-05311-1. Commun Biol. 2023. PMID: 37689798 Free PMC article.
Here, we report the generation of mice with systemic overexpression (sTg) of SLC25A1 or SLC13A5. Both animals displayed increased cytosolic levels of citrate and acetyl-CoA; however, SLC13A5 sTg mice developed a progeria-like phenotype with premature death, while SL …
Here, we report the generation of mice with systemic overexpression (sTg) of SLC25A1 or SLC13A5. Both animals displayed increased cyt …
Novel Approaches to Studying SLC13A5 Disease.
Beltran AS. Beltran AS. Metabolites. 2024 Jan 24;14(2):84. doi: 10.3390/metabo14020084. Metabolites. 2024. PMID: 38392976 Free PMC article. Review.
The role of the sodium citrate transporter (NaCT) SLC13A5 is multifaceted and context-dependent. While aberrant dysfunction leads to neonatal epilepsy, its therapeutic inhibition protects against metabolic disease. ...Finally, I explore the relevance of these cellular mode …
The role of the sodium citrate transporter (NaCT) SLC13A5 is multifaceted and context-dependent. While aberrant dysfunction leads to …
Mapping the Metabolic Niche of Citrate Metabolism and SLC13A5.
Chen F, Willenbockel HF, Cordes T. Chen F, et al. Metabolites. 2023 Feb 23;13(3):331. doi: 10.3390/metabo13030331. Metabolites. 2023. PMID: 36984771 Free PMC article. Review.
Though citrate is one of the best known and most studied metabolites in humans, little is known about the consequences of altered citrate uptake and metabolism. Here, we review recent findings on SLC13A5, NaCT, and citrate metabolism and discuss the effects on metabolic ho …
Though citrate is one of the best known and most studied metabolites in humans, little is known about the consequences of altered citrate up …
The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy.
Whitney R, Choi E, Jones KC. Whitney R, et al. Seizure. 2023 Mar;106:8-13. doi: 10.1016/j.seizure.2023.01.014. Epub 2023 Jan 23. Seizure. 2023. PMID: 36701889 Free article. Review.
The neuroimaging spectrum of SLC13A5 related DEE is not fully known. We present a case of SLC13A5 related DEE with distinct neuroimaging findings and review the neuroimaging findings of all published cases of SLC13A5 related DEE. ...RESULTS: A 16-month-old ma …
The neuroimaging spectrum of SLC13A5 related DEE is not fully known. We present a case of SLC13A5 related DEE with distinct ne …
Targeting Longevity Gene SLC13A5: A Novel Approach to Prevent Age-Related Bone Fragility and Osteoporosis.
Zahn G, Baukmann HA, Wu J, Jordan J, Birkenfeld AL, Dirckx N, Schmidt MF. Zahn G, et al. Metabolites. 2023 Dec 6;13(12):1186. doi: 10.3390/metabo13121186. Metabolites. 2023. PMID: 38132868 Free PMC article.
New Mendelian randomization analysis using UK Biobank data indicated that SNPs linked to reduced SLC13A5 function lowered osteoporosis risk. Comparative studies of young (10 weeks) and middle-aged (52 weeks) osteocalcin-cre-driven osteoblast-specific Slc13a5 knockou …
New Mendelian randomization analysis using UK Biobank data indicated that SNPs linked to reduced SLC13A5 function lowered osteoporosi …
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. Matricardi S, et al. Epilepsia. 2020 Nov;61(11):2474-2485. doi: 10.1111/epi.16699. Epub 2020 Oct 16. Epilepsia. 2020. PMID: 33063863 Review.
OBJECTIVE: Autosomal recessive pathogenic variants of the SLC13A5 gene are associated with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. ...Tooth hypoplasia or hypodontia remains the peculiar feature. The SLC13A5 gene should be scre …
OBJECTIVE: Autosomal recessive pathogenic variants of the SLC13A5 gene are associated with severe neonatal epilepsy, developmental de …
133 results