Modulation of glutamate metabolism in Niemann-pick disease type C1 mice

Niemann-Pick disease, type C1 (NPC1) is a lysosomal disease that results in progressive loss of Purkinje neurons. Previous work has implicated dysregulation of glutamate signaling as a potential pathogenic mechanism. In this study, we explore the efficacy of AMPA receptor inhibition and the role of SLC1A6, a Purkinje neuron glutamate transporter, in NPC1 cerebellar pathology.