Ontology highlight
ABSTRACT:
SUBMITTER: Schwend T
PROVIDER: S-EPMC3122913 | biostudies-literature | 2011 Jul
REPOSITORIES: biostudies-literature
Schwend Tyler T Loucks Evyn J EJ Snyder Diana D Ahlgren Sara C SC
Journal of lipid research 20110516 7
Niemann-Pick disease, type C (NP-C), often associated with Niemann-Pick disease, type C1 (NPC1) mutations, is a cholesterol-storage disorder characterized by cellular lipid accumulation, neurodegeneration, and reduced steroid production. To study NPC1 function in vivo, we cloned zebrafish npc1 and analyzed its gene expression and activity by reducing Npc1 protein with morpholino (MO)-oligonucleotides. Filipin staining in npc1-morphant cells was punctate, suggesting abnormal accumulation of chole ...[more]