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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Détails bibliographiques
Publié dans:Int J Mol Sci
Auteurs principaux: Martin, Kyle B., Williams, Ian M., Cluzeau, Celine V., Cougnoux, Antony, Dale, Ryan K., Iben, James R., Cawley, Niamh X., Wassif, Christopher A., Porter, Forbes D.
Format: Artigo
Langue:Inglês
Publié: MDPI 2019
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6981888/
https://ncbi.nlm.nih.gov/pubmed/31906248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21010292
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