Pathophysiological In Vitro Profile of Neuronal Differentiated Cells Derived from Niemann-Pick Disease Type C2 Patient-Specific iPSCs Carrying the NPC2 Mutations c.58G>T/c.140G>T

Niemann-Pick type C2 (NP-C2) disease is a rare hereditary disease caused by mutations in the NPC2 gene. NPC2 is a small, soluble protein consisting of 151 amino acids, primarily expressed in late endosomes and lysosomes (LE/LY). Together with NPC1, a transmembrane protein found in these organelles,...

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Veröffentlicht in:Int J Mol Sci
Hauptverfasser: Liedtke, Maik, Völkner, Christin, Jürs, Alexandra V., Peter, Franziska, Rabenstein, Michael, Hermann, Andreas, Frech, Moritz J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2021
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8069078/
https://ncbi.nlm.nih.gov/pubmed/33924575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22084009
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