Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability

Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability

Niemann-Pick Type C (NPC) is an autosomal recessive lysosomal storage disease leading to progressive neurodegeneration. Mutations in the <i>NPC1</i> gene, which accounts for 95% of the cases, lead to a defect in intra-lysosomal trafficking of cholesterol and an accumulation of storage ma...

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Bibliographic Details
Main Authors: Graham Brogden, Hadeel Shammas, Friederike Walters, Katia Maalouf, Anibh M. Das, Hassan Y. Naim, Sandra Rizk
Format: Article
Language:English
Published: MDPI AG 2020-03-01
Series:International Journal of Molecular Sciences
Subjects:
niemann-pick type c
cholesterol
miglustat (n-butyldeoxynojirimycin
nb-dnj)
lipid rafts
Online Access:https://www.mdpi.com/1422-0067/21/6/2101

Internet

https://www.mdpi.com/1422-0067/21/6/2101

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