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Identification of target genes linking cholesterol and glycosphingolipid homeostasis to the pathophysiology of Niemann–Pick type C disease

✍ Scribed by Evelyn Orso; Zsuzsanna Wolf; Kerstin Leuthäuser; Marion Binder; Hans H. Klunemann; Werner Kramer; Gerd Schmitz


Book ID
108091338
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
47 KB
Volume
149
Category
Article
ISSN
0009-3084

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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