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pro vyhledávání: '"Shelby Schwarz"'
Autor:
Felicity R. Sterling, Jon D'Amico, Alexandria M. Brumfield, Kara L. Huegel, Patricia S. Vaughan, Kathryn Morris, Shelby Schwarz, Michelle V. Joyce, Bill Boggess, Matthew M. Champion, Kevin Maciuba, Philip Allen, Eric Marasco, Grant Koch, Peter Gonzalez, Shannon Hodges, Shannon Leahy, Erica Gerstbauer, Edward H. Hinchcliffe, Kevin T. Vaughan
Publikováno v:
Journal of Cell Science. 136
The pathological accumulation of cholesterol is a signature feature of Niemann–Pick type C (NPC) disease, in which excessive lipid levels induce Purkinje cell death in the cerebellum. NPC1 encodes a lysosomal cholesterol-binding protein, and mutati