Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test

Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test

Niemann-Pick Type C (NP-C) is a rare disorder of lipid metabolism caused by mutations within the <i>NPC1</i> and <i>NPC2</i> genes. NP-C is a neurovisceral disease leading to a heterogeneous, multisystemic spectrum of symptoms in those affected. Until now, there is no investi...

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Bibliographic Details
Main Authors: Xiao Feng, Claudia Cozma, Supansa Pantoom, Christina Hund, Katharina Iwanov, Janine Petters, Christin Völkner, Claudia Bauer, Florian Vogel, Peter Bauer, Frank U. Weiss, Markus M. Lerch, Anne-Marie Knospe, Andreas Hermann, Moritz J. Frech, Jiankai Luo, Arndt Rolfs, Jan Lukas
Format: Article
Language:English
Published: MDPI AG 2019-10-01
Series:International Journal of Molecular Sciences
Subjects:
variant of unknown significance
lipid metabolism
pharmacological chaperone
liver disease
Online Access:https://www.mdpi.com/1422-0067/20/20/5185

Internet

https://www.mdpi.com/1422-0067/20/20/5185

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