Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella.

ABSTRACT: Niemann-Pick disease, type C1 (NPC1) is a lysosomal disease characterized by endolysosomal storage of unesterified cholesterol and decreased cellular cholesterol bioavailability. A cardinal symptom of NPC1 is cerebellar ataxia due to Purkinje neuron loss. To gain an understanding of the cerebellar neuropathology we obtained single cell transcriptome data from control (Npc1^+/+) and both three-week-old presymptomatic and seven-week-old symptomatic mutant (Npc1^-/-) mice. In seven-week-old Npc1^-/- mice, differential expression data was obtained for neuronal, glial, vascular, and myeloid cells. As anticipated, we observed microglial activation and increased expression of innate immunity genes. We also observed increased expression of innate

SUBMITTER: Cougnoux A 

PROVIDER: S-EPMC7432835 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature