Ontology highlight
ABSTRACT:
SUBMITTER: Hodoscek M
PROVIDER: S-EPMC6163316 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Hodošček Milan M Elghobashi-Meinhardt Nadia N
International journal of molecular sciences 20180904 9
The Niemann Pick type C (NPC) proteins, NPC1 and NPC2, are involved in the lysosomal storage disease, NPC disease. The formation of a NPC1⁻NPC2 protein⁻protein complex is believed to be necessary for the transfer of cholesterol and lipids out of the late endosomal (LE)/lysosomal (Lys) compartments. Mutations in either NPC1 or NPC2 can lead to an accumulation of cholesterol and lipids in the LE/Lys, the primary phenotype of the NPC disease. We investigated the NPC1(NTD)⁻NPC2 protein⁻protein compl ...[more]