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

• Asıl Yazarlar: Caifeng Zhang (Yazar), Keke Su (Yazar), Xu Jiang (Yazar), Yuping Tian (Yazar), Ke Li (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2024-08-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...