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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6981888/
https://www.ncbi.nlm.nih.gov/pubmed/31906248
http://dx.doi.org/10.3390/ijms21010292

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