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Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1
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...
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| Vydáno v: | Int J Mol Sci |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
MDPI
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7828283/ https://ncbi.nlm.nih.gov/pubmed/33445799 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22020710 |
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