Advances in research on potential therapeutic approaches for Niemann-Pick C1 disease

• Autori principali: Caifeng Zhang (Autore), Keke Su (Autore), Xu Jiang (Autore), Yuping Tian (Autore), Ke Li (Autore)
• Natura: Libro
• Pubblicazione: Frontiers Media S.A., 2024-08-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Niemann-Pick disease type C1 (NP-C1) is a rare and devastating recessive inherited lysosomal lipid and cholesterol storage disorder caused by mutations in the NPC1 or NPC2 gene. These two proteins bind to cholesterol and cooperate in endosomal cholesterol transport. Characteristic clinical manifesta...