Localization and function of the Na+/H+ exchanger NHE6 (SLC9A6) in primary neurons
Lara Sach, Magnus Borre, Blanca Aldana, Stine Falsig Pedersen · FENS Forum 2024
Mutations in Na+/H+ exchanger NHE6 (SLC9A6) underlie several X-linked developmental brain disorders including the neurodegenerative disease Christianson Syndrome (CS). Symptoms include cerebellar atrophy, non-verbal status, seizures and severe cognitive disabilities. NHE6 deletion or loss-of-function mutations lead to attenuated endosomal signaling, dysregulated synaptic transmission and abnormal dendritic branching in vitro and in vivo [1]. In this project, we aim to investigate the localization of wildtype- and CS-associated NHE6 variants in primary neurons, the importance of NHE6 in recepto
ePoster · Neuroscience