Ontology highlight
ABSTRACT:
SUBMITTER: Xu M
PROVIDER: S-EPMC3501083 | biostudies-literature | 2012 Nov
REPOSITORIES: biostudies-literature
Xu Miao M Liu Ke K Swaroop Manju M Porter Forbes D FD Sidhu Rohini R Firnkes Sally S Ory Daniel S DS Marugan Juan J JJ Xiao Jingbo J Southall Noel N Pavan William J WJ Davidson Cristin C Walkley Steven U SU Remaley Alan T AT Baxa Ulrich U Sun Wei W McKew John C JC Austin Christopher P CP Zheng Wei W
The Journal of biological chemistry 20121003 47
Niemann-Pick disease type C (NPC) and Wolman disease are two members of a family of storage disorders caused by mutations of genes encoding lysosomal proteins. Deficiency in function of either the NPC1 or NPC2 protein in NPC disease or lysosomal acid lipase in Wolman disease results in defective cellular cholesterol trafficking. Lysosomal accumulation of cholesterol and enlarged lysosomes are shared phenotypic characteristics of both NPC and Wolman cells. Utilizing a phenotypic screen of an appr ...[more]