Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1.

Additional network analysis of the NPC1-dependent-8 module showed a highly significant gene network (score = 63) containing 34 genes all converging on App ( Supplementary Materials Figure S5B ), suggesting that genes related to Aβ processing are altered in Npc1 −/− and may contribute to the spatiotemporal neurodegeneration observed in the disease.

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Our results showed an increased activity in the anterior lobule of Npc1 −/− samples, but this did not reach statistical significance when compared to the same lobules of the control mouse ( Supplementary Materials Figure S5C ).

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