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Updated: Mar 26, 2026

Enrichment of Mammalian Tissues and Xenopus Oocytes with Cholesterol
Published on: March 25, 2020
Guilty until proven innocent: the case of NPC1 and cholesterol
1Department of Human Genetics, The Mount Sinai School of Medicine, New York, NY 10029, USA. Yiannis.Ioannou@mssm.edu
Abstract:
Cholesterol accumulation in the endosomes and lysosomes of Niemann-Pick C (NPC) cells is considered to be the hallmark of this disorder, so the main focus of NPC research has revolved around cholesterol and its role in disease pathogenesis. However, recent data indicate that cholesterol is not the primary culprit in this human lipidosis. I propose a new hypothesis for the potential action or function of the NPC1 protein in the endosome. In this context, the relationship of NPC2 and NPC1 is also discussed.
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