A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.
Alina IlieAndy Y L GaoJonathan ReidAnnie BoucherCassandra McEwanHervé BarrièreGergely L LukacsR Anne McKinneyJohn OrlowskiPublished in: Molecular neurodegeneration (2016)
These results suggest that loss-of-function mutations in NHE6 disrupt recycling endosomal function and trafficking of cargo which ultimately leads to neuronal degeneration and cell death in Christianson Syndrome.