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Niemann-pick disease type C could result from a genetic deficiency of cholesterol egress from the lysosomes

✍ Scribed by W. R. Den Tandt; F. van Hoof


Publisher
Springer
Year
1989
Tongue
English
Weight
198 KB
Volume
12
Category
Article
ISSN
0141-8955

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## Abstract Niemann‐Pick disease type C (NPC) is a deadly neurodegenerative disease often caused by mutation in a gene called NPC1, which results in the accumulation of unesterified cholesterol and glycosphingolipids in the endosomal–lysosomal system. Most studies on the mechanisms of neurodegenera