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

1
Translational Neurodegeneration Section “Albrecht Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany
2
Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, 18147 Rostock, Germany
3
German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, 18147 Rostock, Germany
*
Author to whom correspondence should be addressed.
These authors contributed equally.
Int. J. Mol. Sci. 2021, 22(2), 710; https://doi.org/10.3390/ijms22020710
Received: 21 December 2020 / Revised: 8 January 2021 / Accepted: 10 January 2021 / Published: 12 January 2021
(This article belongs to the Special Issue hiPSC-Derived Cells as Models for Drug Discovery)
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 disease hallmark. A total of 95% of cases are due to a deficiency of NPC1 and only 5% are caused by NPC2 deficiency. Clinical manifestations include neurological symptoms and systemic symptoms, such as hepatosplenomegaly and pulmonary manifestations, the latter being particularly pronounced in NPC2 patients. NPC1 and NPC2 are rare diseases with the described neurovisceral clinical picture, but studies with human primary patient-derived neurons and hepatocytes are hardly feasible. Obviously, induced pluripotent stem cells (iPSCs) and their derivatives are an excellent alternative for indispensable studies with these affected cell types to study the multisystemic disease NPC1. Here, we present a review focusing on studies that have used iPSCs for disease modeling and drug discovery in NPC1 and draw a comparison to commonly used NPC1 models. View Full-Text
Keywords: induced pluripotent stem cells; iPSCs; patient-specific iPSCs; lysosomal storage disorders; NPC1; NPC2; cholesterol; neurodegeneration induced pluripotent stem cells; iPSCs; patient-specific iPSCs; lysosomal storage disorders; NPC1; NPC2; cholesterol; neurodegeneration
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MDPI and ACS Style

Völkner, C.; Liedtke, M.; Hermann, A.; Frech, M.J. Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1. Int. J. Mol. Sci. 2021, 22, 710. https://doi.org/10.3390/ijms22020710

AMA Style

Völkner C, Liedtke M, Hermann A, Frech MJ. Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1. International Journal of Molecular Sciences. 2021; 22(2):710. https://doi.org/10.3390/ijms22020710

Chicago/Turabian Style

Völkner, Christin; Liedtke, Maik; Hermann, Andreas; Frech, Moritz J. 2021. "Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1" Int. J. Mol. Sci. 22, no. 2: 710. https://doi.org/10.3390/ijms22020710

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