[HTML][HTML] Mannose 6-phosphate receptors, Niemann-Pick C2 protein, and lysosomal cholesterol accumulation
M Willenborg, CK Schmidt, P Braun, J Landgrebe… - Journal of lipid …, 2005 - ASBMB
Niemann-Pick disease type C (NPC), caused by mutations in the NPC1 gene or the NPC2
gene, is characterized by the accumulation of unesterified cholesterol and other lipids in
endo/lysosomal compartments. NPC2 is a small, soluble, lysosomal protein that is targeted
to this compartment via a mannose 6-phosphate-inhibitable pathway. To obtain insight into
the roles of mannose 6-phosphate receptors (MPRs) in NPC2 targeting, we here examine
the trafficking and function of NPC2 in fibroblast lines deficient in one or both of the two …
gene, is characterized by the accumulation of unesterified cholesterol and other lipids in
endo/lysosomal compartments. NPC2 is a small, soluble, lysosomal protein that is targeted
to this compartment via a mannose 6-phosphate-inhibitable pathway. To obtain insight into
the roles of mannose 6-phosphate receptors (MPRs) in NPC2 targeting, we here examine
the trafficking and function of NPC2 in fibroblast lines deficient in one or both of the two …