NPC1 deficiency in mice is associated with fetal growth restriction, neonatal lethality and abnormal lung pathology

Eitemau Tebyg

• FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts
  gan: Newton, J, et al.
  Cyhoeddwyd: (2017)
• AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease
  gan: Chang Xie, et al.
  Cyhoeddwyd: (2017-03-01)
• Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
  gan: Baxter, LL, et al.
  Cyhoeddwyd: (2022)
• Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease.
  gan: Blair R Roszell, et al.
  Cyhoeddwyd: (2013-01-01)
• Lethal fetal stroke in utero
  gan: Tzu-Hung Lin, et al.
  Cyhoeddwyd: (2013-06-01)