SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

SLC4A10 is a plasma-membrane bound transporter that utilizes the Na(+) gradient to drive cellular HCO(3)(−) uptake, thus mediating acid extrusion. In the mammalian brain, SLC4A10 is expressed in principal neurons and interneurons, as well as in epithelial cells of the choroid plexus, the organ regul...

Descripción completa

Detalles Bibliográficos
Autores principales: Fasham, James, Huebner, Antje K, Liebmann, Lutz, Khalaf-Nazzal, Reham, Maroofian, Reza, Kryeziu, Nderim, Wortmann, Saskia B, Leslie, Joseph S, Ubeyratna, Nishanka, Mancini, Grazia M S, van Slegtenhorst, Marjon, Wilke, Martina, Haack, Tobias B, Shamseldin, Hanan E, Gleeson, Joseph G, Almuhaizea, Mohamed, Dweikat, Imad, Abu-Libdeh, Bassam, Daana, Muhannad, Zaki, Maha S, Wakeling, Matthew N, McGavin, Lucy, Turnpenny, Peter D, Alkuraya, Fowzan S, Houlden, Henry, Schlattmann, Peter, Kaila, Kai, Crosby, Andrew H, Baple, Emma L, Hübner, Christian A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629776/
https://www.ncbi.nlm.nih.gov/pubmed/37459438
http://dx.doi.org/10.1093/brain/awad235

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629776/
https://www.ncbi.nlm.nih.gov/pubmed/37459438
http://dx.doi.org/10.1093/brain/awad235

Ejemplares similares