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

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

Niemann-Pick disease, type C1 (NPC1) is a lysosomal disease characterized by progressive cerebellar ataxia. In NPC1, a defect in cholesterol transport leads to endolysosomal storage of cholesterol and decreased cholesterol bioavailability. Purkinje neurons are sensitive to the loss of NPC1 function....

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Bibliographic Details
Main Authors: Kyle B. Martin, Ian M. Williams, Celine V. Cluzeau, Antony Cougnoux, Ryan K. Dale, James R. Iben, Niamh X. Cawley, Christopher A. Wassif, Forbes D. Porter
Format: Article
Language:English
Published: MDPI AG 2019-12-01
Series:International Journal of Molecular Sciences
Subjects:
niemann–pick disease
type c1
npc1
cerebellum
neurodegeneration
purkinje neurons
rna-seq
wgcna
Online Access:https://www.mdpi.com/1422-0067/21/1/292

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https://www.mdpi.com/1422-0067/21/1/292

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