Article
Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability.
International journal of molecular sciences - 19 Mar 2020
Brogden Graham, Shammas Hadeel, Walters Friederike, Maalouf Katia, Das Anibh M, Naim Hassan Y, Rizk Sandra
Abstract excerpt
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 cholesterol and sphingolipids in the endo-lysosomal system. Symptoms are progressive neurological and visceral...
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