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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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Bibliografiske detaljer
Udgivet i:Int J Mol Sci
Main Authors: Völkner, Christin, Liedtke, Maik, Hermann, Andreas, Frech, Moritz J.
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2021
Fag:
Online adgang: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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