Topic: SLC9A6

In many neurological disorders, sleep disturbances and intellectual disability are strongly associated.Therefore, by studying these types of disorders, we can attempt to elucidate molecular and cellularmechanisms with broad relevance to brain function and disease. Christianson syndrome (CS) is anexample of a monogenic condition involving X-linked intellectual disability and sleep disturbances.The lack of treatment options for these children is directly related to our poor understanding of themechanisms underlying the disease. CS arises from mutations in the SLC9A6 gene which encodes theendosom

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