[HTML][HTML] Niemann-Pick C1 Functions Independently of Niemann-Pick C2 in the Initial Stage of Retrograde Transport of Membrane-impermeable Lysosomal Cargo 2
SDB Goldman, JP Krise - Journal of Biological Chemistry, 2010 - ASBMB
The rare neurodegenerative disease Niemann-Pick Type C (NPC) results from mutations in
either NPC1 or NPC2, which are membrane-bound and soluble lysosomal proteins,
respectively. Previous studies have shown that mutations in either protein result in
biochemically indistinguishable phenotypes, most notably the hyper-accumulation of
cholesterol and other cargo in lysosomes. We comparatively evaluated the kinetics of [3 H]
dextran release from lysosomes of wild type, NPC1, NPC2, and NPC1/NPC2 pseudo-double …
either NPC1 or NPC2, which are membrane-bound and soluble lysosomal proteins,
respectively. Previous studies have shown that mutations in either protein result in
biochemically indistinguishable phenotypes, most notably the hyper-accumulation of
cholesterol and other cargo in lysosomes. We comparatively evaluated the kinetics of [3 H]
dextran release from lysosomes of wild type, NPC1, NPC2, and NPC1/NPC2 pseudo-double …