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Article

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

28 Jul 2020

Abstract excerpt

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...

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PMID: 32731618
DOI: 10.3390/ijms21155368

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