Ontology highlight
ABSTRACT:
SUBMITTER: Vite CH
PROVIDER: S-EPMC4415615 | biostudies-other | 2015 Feb
REPOSITORIES: biostudies-other
Vite Charles H CH Bagel Jessica H JH Swain Gary P GP Prociuk Maria M Sikora Tracey U TU Stein Veronika M VM O'Donnell Patricia P Ruane Therese T Ward Sarah S Crooks Alexandra A Li Su S Mauldin Elizabeth E Stellar Susan S De Meulder Marc M Kao Mark L ML Ory Daniel S DS Davidson Cristin C Vanier Marie T MT Walkley Steven U SU
Science translational medicine 20150201 276
Niemann-Pick type C1 (NPC) disease is a lysosomal storage disease caused by mutations in the NPC1 gene, leading to an increase in unesterified cholesterol and several sphingolipids, and resulting in hepatic disease and progressive neurological disease. We show that subcutaneous administration of the pharmaceutical excipient 2-hydroxypropyl-β-cyclodextrin (HPβCD) to cats with NPC disease ameliorated hepatic disease, but doses sufficient to reduce neurological disease resulted in pulmonary toxicit ...[more]