Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for <i>in vivo</i> screening of candidate therapeutic compounds.

ABSTRACT: Niemann-Pick disease type C1 (NPC1) is a rare autosomal recessive lysosomal storage disease primarily caused by mutations in NPC1 NPC1 is characterized by abnormal accumulation of unesterified cholesterol and glycolipids in late endosomes and lysosomes. Common signs include neonatal jaundice, hepatosplenomegaly, cerebellar ataxia, seizures and cognitive decline. Both mouse and feline models of NPC1 mimic the disease progression in humans and have been used in preclinical studies of 2-hydroxypropyl-β-cyclodextrin (2HPβCD; VTS-270), a drug that appeared to slow neurological progression in a Phase 1/2 clinical trial. However, there remains a need to identify additional therapeutic agents. High-throughput drug screens have been useful in identifying potential therapeutic compounds; howe

SUBMITTER: Tseng WC 

PROVIDER: S-EPMC6176986 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature