Wird geladen...

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....

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Int J Mol Sci
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: MDPI 2019
Schlagworte:
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!