Defective platelet function in Niemann‐Pick disease type C1

Defective platelet function in Niemann‐Pick disease type C1

Abstract Niemann‐Pick disease type C (NPC) is a neurodegenerative lysosomal storage disorder caused by mutations in either NPC1 (95% of cases) or NPC2. Reduced late endosome/lysosome calcium (Ca2+) levels and the accumulation of unesterified cholesterol and sphingolipids within the late endocytic sy...

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Bibliographic Details
Main Authors: Oscar C. W. Chen, Alexandria Colaco, Lianne C. Davis, Fedir N. Kiskin, Nicole Y. Farhat, Anneliese O. Speak, David A. Smith, Lauren Morris, Emily Eden, Patricia Tynan, Grant C. Churchill, Antony Galione, Forbes D. Porter, Frances M. Platt
Format: Article
Language:English
Published: Wiley 2020-11-01
Series:JIMD Reports
Subjects:
calcium (Ca2+)
lysosome
lysosome‐related organelle
Niemann‐Pick disease type C
Online Access:https://doi.org/10.1002/jmd2.12148

Internet

https://doi.org/10.1002/jmd2.12148

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