Ontology highlight
ABSTRACT:
SUBMITTER: Ebrahimi-Fakhari D
PROVIDER: S-EPMC5179952 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Ebrahimi-Fakhari Darius D Wahlster Lara L Bartz Fabian F Werenbeck-Ueding Jennifer J Praggastis Maria M Zhang Jessie J Joggerst-Thomalla Brigitte B Theiss Susanne S Grimm Dirk D Ory Daniel S DS Runz Heiko H
Human molecular genetics 20160704 16
Niemann-Pick type C disease (NP-C) is a progressive lysosomal lipid storage disease caused by mutations in the NPC1 and NPC2 genes. NPC1 is essential for transporting cholesterol and other lipids out of lysosomes, but little is known about the mechanisms that control its cellular abundance and localization. Here we show that a reduction of TMEM97, a cholesterol-responsive NPC1-binding protein, increases NPC1 levels in cells through a post-transcriptional mechanism. Reducing TMEM97 through RNA-in ...[more]