Impaired Retromer Function in Niemann-Pick Type C Disease Is Dependent on Intracellular Cholesterol Accumulation

Impaired Retromer Function in Niemann-Pick Type C Disease Is Dependent on Intracellular Cholesterol Accumulation

Niemann-Pick type C disease (NPC) is a rare inherited neurodegenerative disorder characterized by an accumulation of intracellular cholesterol within late endosomes and lysosomes due to NPC1 or NPC2 dysfunction. In this work, we tested the hypothesis that retromer impairment may be involved in the p...

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Bibliographic Details
Main Authors: Kristina Dominko, Ana Rastija, Sandra Sobocanec, Lea Vidatic, Sarah Meglaj, Andrea Lovincic Babic, Birgit Hutter-Paier, Alessio-Vittorio Colombo, Stefan F. Lichtenthaler, Sabina Tahirovic, Silva Hecimovic
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:International Journal of Molecular Sciences
Subjects:
cholesterol homeostasis
endolysosomal pathway
neurodegeneration
neurodegenerative diseases
NPC1
rare diseases
Online Access:https://www.mdpi.com/1422-0067/22/24/13256

Internet

https://www.mdpi.com/1422-0067/22/24/13256

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