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

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 n...

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Bibliografiske detaljer
Udgivet i:Int J Mol Sci
Main Authors: Cougnoux, Antony, Yerger, Julia C., Fellmeth, Mason, Serra-Vinardell, Jenny, Martin, Kyle, Navid, Fatemeh, Iben, James, Wassif, Christopher A., Cawley, Niamh X., Porter, Forbes D.
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7432835/
https://ncbi.nlm.nih.gov/pubmed/32731618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21155368
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