| Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. | 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. | 03/12/2024 |
| In vitro investigation of the effect of proinflammatory cytokines on mouse choroid plexus membrane transporters Ncbe and NKCC1. | In vitro investigation of the effect of proinflammatory cytokines on mouse choroid plexus membrane transporters Ncbe and NKCC1.
Johnsen LØ, Friis KA, Damkier HH., Free PMC Article | 11/18/2023 |
| SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. | 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., Free PMC Article | 11/14/2023 |
| Genetic disruption of slc4a10 alters the capacity for cellular metabolism and vectorial ion transport in the choroid plexus epithelium. | Genetic disruption of slc4a10 alters the capacity for cellular metabolism and vectorial ion transport in the choroid plexus epithelium.
Christensen IB, Wu Q, Bohlbro AS, Skals MG, Damkier HH, Hübner CA, Fenton RA, Praetorius J., Free PMC Article | 11/21/2020 |
| Disruption of Slc4a10 results in loss of Slc4a7 expression specifically in inner ear fibrocytes but not in other tissues. At the ultrastructural level, mitochondria of spiral ligament knockout fibrocytes show severe alterations. | 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., Free PMC Article | 06/27/2020 |
| finding show that somatodendritic expression of Slc4a10 undergoes neuron type- and input pathway-dependent regulation in adult brains | 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. | 05/30/2015 |
| We conclude that alternative transcription and splicing of Slc4a10 products are regulated in a tissue-specific manner. Our findings provide critical insights that will greatly influence the study of the physiology of NBCn2. | Cloning and functional characterization of novel variants and tissue-specific expression of alternative amino and carboxyl termini of products of slc4a10.
Liu Y, Wang DK, Jiang DZ, Qin X, Xie ZD, Wang QK, Liu M, Chen LM., Free PMC Article | 08/10/2013 |
| Data indicate that sodium-driven chloride bicarbonate exchanger NCBE (Slc4a10) is strongly expressed in the mouse retina. | Lack of the sodium-driven chloride bicarbonate exchanger NCBE impairs visual function in the mouse retina.
Hilgen G, Huebner AK, Tanimoto N, Sothilingam V, Seide C, Garcia Garrido M, Schmidt KF, Seeliger MW, Löwel S, Weiler R, Hübner CA, Dedek K., Free PMC Article | 04/6/2013 |
| Slc4a10 knockout is more deleterious to choroid plexus epithelium than aquaporin 1 (AQP1) knockout. | Genetic ablation of Slc4a10 alters the expression pattern of transporters involved in solute movement in the mouse choroid plexus.
Damkier HH, Praetorius J. | 07/28/2012 |
| Cloning of the NBCn2-A transcript demonstrates that it is dominant in the subcortex and medulla of mouse brain. | Expression and distribution of NBCn2 (Slc4a10) splice variants in mouse brain: cloning of novel variant NBCn2-D.
Liu Y, Xu JY, Wang DK, Boron WF, Chen LM., Free PMC Article | 03/10/2012 |
| NBCn2 is highly expressed in choroid plexus, cortex, molecular layer of cerebellum, hippocampus, and some specific regions of the brainstem. | Distribution of NBCn2 (SLC4A10) splice variants in mouse brain.
Liu Y, Xu K, Chen LM, Sun X, Parker MD, Kelly ML, LaManna JC, Boron WF., Free PMC Article | 01/1/2011 |
| slc4a10 expressed in mammalian cells encodes a Na(+)-dependent Cl(-)/HCO(3)(-) exchanger in which four specific charged amino acids seem necessary for ion transport. | Na+-dependent HCO3- import by the slc4a10 gene product involves Cl- export.
Damkier HH, Aalkjaer C, Praetorius J., Free PMC Article | 09/20/2010 |
| Nhe1 is a luminal Na+/H+ exchanger in mouse choroid plexus and is targeted to the basolateral membrane in Ncbe/Nbcn2-null mice. | Nhe1 is a luminal Na+/H+ exchanger in mouse choroid plexus and is targeted to the basolateral membrane in Ncbe/Nbcn2-null mice.
Damkier HH, Prasad V, Hübner CA, Praetorius J., Free PMC Article | 01/21/2010 |
| NCBE is present at the basolateral membrane of embryonic day 18 fetal and adult choroid plexus | Use of a new polyclonal antibody to study the distribution and glycosylation of the sodium-coupled bicarbonate transporter NCBE in rodent brain.
Chen LM, Kelly ML, Rojas JD, Parker MD, Gill HS, Davis BA, Boron WF., Free PMC Article | 01/21/2010 |
| most cases, hypoxia reduced NBCn1 levels by 20-50%, and NCBE levels by 15-40% in cerebral cortex, subcortex, cerebellum, and hippocampus, both after 14 and 28 days, and in both pups and adults. | Chronic continuous hypoxia decreases the expression of SLC4A7 (NBCn1) and SLC4A10 (NCBE) in mouse brain.
Chen LM, Choi I, Haddad GG, Boron WF. | 01/21/2010 |
| Slc4a10 is involved in the control of neuronal pH and excitability and may contribute to the secretion of cerebrospinal fluid | 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., Free PMC Article | 01/21/2010 |
| SLC4A10 gene product and NBCn1 both function as basolateral HCO3- entry pathways and that the SLC4A10 gene product may be responsible for the stilbene-sensitive Na+-HCO3- uptake that is essential for cerebrospinal fluid production. | A SCL4A10 gene product maps selectively to the basolateral plasma membrane of choroid plexus epithelial cells.
Praetorius J, Nejsum LN, Nielsen S. | 01/21/2010 |
| NCBE is expressed in the peripheral nervous system and in non-neuronal tissues as the choroid plexus, the dura, and some epithelia including the acid secreting epithelium of the stomach and the duodenal epithelium. | Expression of the sodium-driven chloride bicarbonate exchanger NCBE during prenatal mouse development.
Hübner CA, Hentschke M, Jacobs S, Hermans-Borgmeyer I. | 01/21/2010 |