Ontology highlight
ABSTRACT:
INSTRUMENT(S): LTQ Orbitrap Velos
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Permanent Cell Line Cell, Lymph Node
DISEASE(S): Lysosomal Storage Disease
SUBMITTER: Cristian Munteanu
LAB HEAD: Stefana M. Petrescu
PROVIDER: PXD042762 | Pride | 2023-07-24
REPOSITORIES: Pride
Rus Alina Adriana AA Militaru Ioana V IV Popa Ioana I Munteanu Cristian V A CVA Sima Livia Elena LE Platt Nick N Platt Frances M FM Petrescu Ștefana M ȘM
The Journal of biological chemistry 20230707 8
Niemann-Pick type C1 (NPC1) protein is a multimembrane spanning protein of the lysosome limiting membrane that facilitates intracellular cholesterol and sphingolipid transport. Loss-of-function mutations in the NPC1 protein cause Niemann-Pick disease type C1, a lysosomal storage disorder characterized by the accumulation of cholesterol and sphingolipids within lysosomes. To investigate whether the NPC1 protein could also play a role in the maturation of the endolysosomal pathway, here, we have i ...[more]