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

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

Niemann-Pick type C2 (NP-C2) disease is a rare hereditary disease caused by mutations in the <i>NPC2</i> 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...

Full description

Bibliographic Details
Main Authors: Maik Liedtke, Christin Völkner, Alexandra V. Jürs, Franziska Peter, Michael Rabenstein, Andreas Hermann, Moritz J. Frech
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:International Journal of Molecular Sciences
Subjects:
Niemann-Pick type C2 (NP-C2)
cholesterol
oxidative stress
filipin
autophagy
patch clamp
Online Access:https://www.mdpi.com/1422-0067/22/8/4009

Internet

https://www.mdpi.com/1422-0067/22/8/4009

Similar Items