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SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, van Slegtenhorst M, Wilke M, Haack TB, Shamseldin HE, Gleeson JG, Almuhaizea M, Dweikat I, Abu-Libdeh B, Daana M, Zaki MS, Wakeling MN, McGavin L, Turnpenny PD, Alkuraya FS, Houlden H, Schlattmann P, Kaila K, Crosby AH, Baple EL, Hübner CA. Fasham J, et al. Brain. 2023 Nov 2;146(11):4547-4561. doi: 10.1093/brain/awad235. Brain. 2023. PMID: 37459438 Free PMC article.
SLC4A10 is a plasma-membrane bound transporter that utilizes the Na+ gradient to drive cellular HCO3- uptake, thus mediating acid extrusion. ...Collapsed brain ventricles in both Slc4a10-/- mice and affected individuals suggest an important role of SLC4A10 in …
SLC4A10 is a plasma-membrane bound transporter that utilizes the Na+ gradient to drive cellular HCO3- uptake, thus mediating acid ext …
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA. Maroofian R, et al. Genet Med. 2024 Mar;26(3):101034. doi: 10.1016/j.gim.2023.101034. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054405 Free PMC article.
PURPOSE: SLC4A10 encodes a plasma membrane-bound transporter, which mediates Na(+)-dependent HCO(3)(-) import, thus mediating net acid extrusion. Slc4a10 knockout mice show collapsed brain ventricles, an increased seizure threshold, mild behavioral abnormalities, im …
PURPOSE: SLC4A10 encodes a plasma membrane-bound transporter, which mediates Na(+)-dependent HCO(3)(-) import, thus mediating net aci …
Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice.
Huebner AK, Maier H, Maul A, Nietzsche S, Herrmann T, Praetorius J, Hübner CA. Huebner AK, et al. J Assoc Res Otolaryngol. 2019 Jun;20(3):233-245. doi: 10.1007/s10162-019-00719-1. Epub 2019 Apr 18. J Assoc Res Otolaryngol. 2019. PMID: 31001720 Free PMC article.
Notably, the expression of a related bicarbonate transporter, i.e., Slc4a7/Nbcn1, is also lost in spiral ligament fibrocytes of Slc4a10 knockout mice. The histological analysis of the spiral ligament of Slc4a10 knockout mice does not reveal overt fibrocyte loss as r …
Notably, the expression of a related bicarbonate transporter, i.e., Slc4a7/Nbcn1, is also lost in spiral ligament fibrocytes of Slc4a10 …
Disruption of Slc4a10 augments neuronal excitability and modulates synaptic short-term plasticity.
Sinning A, Liebmann L, Hübner CA. Sinning A, et al. Front Cell Neurosci. 2015 Jun 16;9:223. doi: 10.3389/fncel.2015.00223. eCollection 2015. Front Cell Neurosci. 2015. PMID: 26136660 Free PMC article.
Paired pulse facilitation was diminished in the hippocampus upon disruption of Slc4a10. In the neocortex paired pulse depression was increased. Though short term plasticity is modulated via Slc4a10, long term potentiation appears independent of Slc4a10. Our d …
Paired pulse facilitation was diminished in the hippocampus upon disruption of Slc4a10. In the neocortex paired pulse depression was …
Cation-coupled bicarbonate transporters.
Aalkjaer C, Boedtkjer E, Choi I, Lee S. Aalkjaer C, et al. Compr Physiol. 2014 Oct;4(4):1605-37. doi: 10.1002/cphy.c130005. Compr Physiol. 2014. PMID: 25428855 Free PMC article. Review.
There are currently five mammalian NCBTs in the SLC4-family: the electrogenic Na,HCO3-cotransporters NBCe1 and NBCe2 (SLC4A4 and SLC4A5 gene products); the electroneutral Na,HCO3-cotransporter NBCn1 (SLC4A7 gene product); the Na(+)-driven Cl,HCO3-exchanger NDCBE (SLC4A8 gene prod …
There are currently five mammalian NCBTs in the SLC4-family: the electrogenic Na,HCO3-cotransporters NBCe1 and NBCe2 (SLC4A4 and SLC4A5 gene …
K(+)-Driven Cl(-)/HCO(3)(-) Exchange Mediated by Slc4a8 and Slc4a10.
Peña-Münzenmayer G, George AT, Llontop N, Mazola Y, Apablaza N, Spichiger C, Brauchi S, Sarmiento J, Zúñiga L, González W, Catalán MA. Peña-Münzenmayer G, et al. Int J Mol Sci. 2024 Apr 22;25(8):4575. doi: 10.3390/ijms25084575. Int J Mol Sci. 2024. PMID: 38674160 Free PMC article.
In the present study, we show that either Na(+) or K(+) drive Cl(-)/HCO(3)(-) exchanger activity in cells overexpressing Slc4a8 or Slc4a10. Further characterization of cation-driven Cl(-)/HCO(3)(-) exchange demonstrated that Slc4a8 and Slc4a10 also mediate Cl(-) and …
In the present study, we show that either Na(+) or K(+) drive Cl(-)/HCO(3)(-) exchanger activity in cells overexpressing Slc4a8 or Slc4a1 …
NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality.
Böger CA, Gorski M, McMahon GM, Xu H, Chang YC, van der Most PJ, Navis G, Nolte IM, de Borst MH, Zhang W, Lehne B, Loh M, Tan ST, Boerwinkle E, Grams ME, Sekula P, Li M, Wilmot B, Moon JG, Scheet P, Cucca F, Xiao X, Lyytikäinen LP, Delgado G, Grammer TB, Kleber ME, Sedaghat S, Rivadeneira F, Corre T, Kutalik Z, Bergmann S, Nielson CM, Srikanth P, Teumer A, Müller-Nurasyid M, Brockhaus AC, Pfeufer A, Rathmann W, Peters A, Matsumoto M, de Andrade M, Atkinson EJ, Robinson-Cohen C, de Boer IH, Hwang SJ, Heid IM, Gögele M, Concas MP, Tanaka T, Bandinelli S, Nalls MA, Singleton A, Tajuddin SM, Adeyemo A, Zhou J, Doumatey A, McWeeney S, Murabito J, Franceschini N, Flessner M, Shlipak M, Wilson JG, Chen G, Rotimi CN, Zonderman AB, Evans MK, Ferrucci L, Devuyst O, Pirastu M, Shuldiner A, Hicks AA, Pramstaller PP, Kestenbaum B, Kardia SLR, Turner ST, Study LC, Briske TE, Gieger C, Strauch K, Meisinger C, Meitinger T, Völker U, Nauck M, Völzke H, Vollenweider P, Bochud M, Waeber G, Kähönen M, Lehtimäki T, März W, Dehghan A, Franco OH, Uitterlinden AG, Hofman A, Taylor HA, Chambers JC, Kooner JS, Fox CS, Hitzemann R, Orwoll ES, Pattaro C, Schlessinger D, Köttgen A, Snieder H, Parsa A, Cohen D… See abstract for full author list ➔ Böger CA, et al. J Am Soc Nephrol. 2017 Aug;28(8):2311-2321. doi: 10.1681/ASN.2016080892. Epub 2017 Mar 30. J Am Soc Nephrol. 2017. PMID: 28360221 Free PMC article.
The lead variants for NFAT5 and SLC4A10 are cis expression quantitative trait loci in tissues of the central nervous system and relevant to transcriptional regulation. Thus, genetic variation in NFAT5 and SLC4A10 expression and function in the central nervous system …
The lead variants for NFAT5 and SLC4A10 are cis expression quantitative trait loci in tissues of the central nervous system and relev …
Single-Cell Transcriptomics Reveals Crucial Cell Subsets and Functional Heterogeneity Associated With Carotid Atherosclerosis and Cerebrovascular Events.
Tan J, Liang Y, Yang Z, He Q, Tong J, Deng Y, Guo W, Liang K, Tang J, Shi W, Yu B. Tan J, et al. Arterioscler Thromb Vasc Biol. 2023 Dec;43(12):2312-2332. doi: 10.1161/ATVBAHA.123.318974. Epub 2023 Oct 26. Arterioscler Thromb Vasc Biol. 2023. PMID: 37881939 Free PMC article.
Strikingly, usually antiatherogenic, CD4(+)FOXP3(+) regulatory T cells from plaques of patients with symptomatic disease acquired proinflammatory properties by probably converting to T helper 17 and T helper 9 cells, while CD4(+)NR4A1(+)/C0 and CD8(+)SLC4A10(+) T cells rel …
Strikingly, usually antiatherogenic, CD4(+)FOXP3(+) regulatory T cells from plaques of patients with symptomatic disease acquired proinflamm …
Neuron type- and input pathway-dependent expression of Slc4a10 in adult mouse brains.
Song X, Yamasaki M, Miyazaki T, Konno K, Uchigashima M, Watanabe M. Song X, et al. Eur J Neurosci. 2014 Sep;40(5):2797-810. doi: 10.1111/ejn.12636. Epub 2014 Jun 6. Eur J Neurosci. 2014. PMID: 24905082
Here we investigated Slc4a10 expression in adult mouse brains by in situ hybridization and immunohistochemistry. ...Slc4a10 and KCC2 overlapped in most somatodendritic elements. However, relative abundance was largely complementary in the cerebellar cortex, with par …
Here we investigated Slc4a10 expression in adult mouse brains by in situ hybridization and immunohistochemistry. ...Slc4a10 an …
Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability.
Jacobs S, Ruusuvuori E, Sipilä ST, Haapanen A, Damkier HH, Kurth I, Hentschke M, Schweizer M, Rudhard Y, Laatikainen LM, Tyynelä J, Praetorius J, Voipio J, Hübner CA. Jacobs S, et al. Proc Natl Acad Sci U S A. 2008 Jan 8;105(1):311-6. doi: 10.1073/pnas.0705487105. Epub 2007 Dec 28. Proc Natl Acad Sci U S A. 2008. PMID: 18165320 Free PMC article.
Slc4a10 also was expressed in neurons. Within the hippocampus, the Slc4a10 protein was abundant in CA3 pyramidal cells. ...Hence, Slc4a10 is a promising pharmacological target for the therapy of epilepsy or elevated intracranial pressure....
Slc4a10 also was expressed in neurons. Within the hippocampus, the Slc4a10 protein was abundant in CA3 pyramidal cells. ...Hen …
63 results