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Article

Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1.

International journal of molecular sciences - 12 Jan 2021

Völkner Christin, Liedtke Maik, Hermann Andreas, Frech Moritz J

Abstract excerpt

The lysosomal storage disorders Niemann-Pick disease Type C1 (NPC1) and Type C2 (NPC2) are rare diseases caused by mutations in the NPC1 or NPC2 gene. Both NPC1 and NPC2 are proteins responsible for the exit of cholesterol from late endosomes and lysosomes (LE/LY). Consequently, mutations in one of the two proteins lead to the accumulation of unesterified cholesterol and glycosphingolipids in LE/LY, displaying a...

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PMID: 33445799
DOI: 10.3390/ijms22020710
PMCID: PMC7828283

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