Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems

Niemann-Pick type C1 (NP-C1) is a fatal, progressive neurodegenerative disease caused by mutations in the NPC1 gene. Mutations of NPC1 can result in a misfolded protein that is subsequently marked for proteasomal degradation. Such loss-of-function mutations lead to cholesterol accumulation in late e...

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Detalles Bibliográficos
Autores principales: Völkner, Christin, Pantoom, Supansa, Liedtke, Maik, Lukas, Jan, Hermann, Andreas, Frech, Moritz J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8834315/
https://www.ncbi.nlm.nih.gov/pubmed/35159129
http://dx.doi.org/10.3390/cells11030319

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8834315/
https://www.ncbi.nlm.nih.gov/pubmed/35159129
http://dx.doi.org/10.3390/cells11030319

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