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 NPC1 gene, which accounts for 95% of the cases, lead to a defect in intra-lysosomal trafficking of cholesterol and an accumulation of storage material including ch...
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| Format: | article |
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2020
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| Online Access: | http://hdl.handle.net/10725/11979 https://doi.org/10.3390/ijms21062101 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://www.mdpi.com/1422-0067/21/6/2101 |
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