Ontology highlight
ABSTRACT:
SUBMITTER: Jiang X
PROVIDER: S-EPMC3122908 | biostudies-other | 2011 Jul
REPOSITORIES: biostudies-other
Jiang Xuntian X Sidhu Rohini R Porter Forbes D FD Yanjanin Nicole M NM Speak Anneliese O AO te Vruchte Danielle Taylor DT Platt Frances M FM Fujiwara Hideji H Scherrer David E DE Zhang Jessie J Dietzen Dennis J DJ Schaffer Jean E JE Ory Daniel S DS
Journal of lipid research 20110424 7
Niemann-Pick type C1 (NPC1) disease is a rare, progressively fatal neurodegenerative disease for which there are no FDA-approved therapies. A major barrier to developing new therapies for this disorder has been the lack of a sensitive and noninvasive diagnostic test. Recently, we demonstrated that two cholesterol oxidation products, specifically cholestane-3β,5α,6β-triol (3β,5α,6β-triol) and 7-ketocholesterol (7-KC), were markedly increased in the plasma of human NPC1 subjects, suggesting a role ...[more]