Myeloid cell–specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease

L Dinkel, S Hummel, V Zenatti, M Malara… - Science translational …, 2024 - science.org
Niemann-Pick type C (NPC) disease is an inherited lysosomal storage disorder mainly
driven by mutations in the NPC1 gene, causing lipid accumulation within late endosomes …

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

C Zhang, K Su, X Jiang, Y Tian, K Li - Frontiers in Pharmacology, 2024 - frontiersin.org
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 …

Differently increased volumes of multiple brain areas in Npc1 mutant mice following various drug treatments

V Antipova, D Heimes, K Seidel, J Schulz… - Frontiers in …, 2024 - frontiersin.org
Background Niemann-Pick disease type C1 (NPC1, MIM 257220) is a heritable lysosomal
storage disease characterized by a progressive neurological degeneration that causes …

[HTML][HTML] Deficiency of myeloid NPC1 exacerbates liver injury and fibrosis by impairing macrophage efferocytosis

D Guan, P Huang, X Liu, Q Li, X Zhang, N Liu… - Journal of Advanced …, 2024 - Elsevier
Abstract Introduction Niemann-Pick C1 (NPC1), a lysosomal cholesterol transport protein, is
required for efficient efferocytosis. Patients with Npc1 mutation are frequently accompanied …

Two NPC1 homologous proteins are involved in asexual reproduction, pathogenicity, and lipid trafficking in Phytophthora sojae

Z Xue, X Liu, X Zhou, F Liu, S Yin, X Liu - International Journal of Biological …, 2025 - Elsevier
Abstract Niemann-Pick type C (NPC) disease is characterized by lysosomal lipid storage
disorders and defects in lipid trafficking, primarily due to mutations in the NPC1 protein. Two …