Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells

Niemann-Pick type C disease (NP-C) is a progressive lysosomal lipid storage disease caused by mutations in the NPC1 and NPC2 genes. NPC1 is essential for transp

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Main Authors: Ebrahimi-Fakhari, Darius (Author) , Wahlster, Lara (Author) , Bartz, Fabian (Author) , Werenbeck-Ueding, Jennifer (Author) , Praggastis, Maria (Author) , Zhang, Jessie (Author) , Joggerst-Thomalla, Brigitte (Author) , Theiß, Susanne (Author) , Grimm, Dirk (Author) , Ory, Daniel S. (Author) , Runz, Heiko (Author)
Format: Article (Journal)
Language:English
Published: 4 July 2016
In: Human molecular genetics
Year: 2016, Volume: 25, Issue: 16, Pages: 3588-3599
ISSN:1460-2083
DOI:10.1093/hmg/ddw204
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/hmg/ddw204
Verlag, lizenzpflichtig, Volltext: https://academic.oup.com/hmg/article/25/16/3588/2525822
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Author Notes:Darius Ebrahimi-Fakhari, Lara Wahlster, Fabian Bartz, Jennifer Werenbeck-Ueding, Maria Praggastis, Jessie Zhang, Brigitte Joggerst-Thomalla, Susanne Theiss, Dirk Grimm, Daniel S. Ory and Heiko Runz
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Summary:Niemann-Pick type C disease (NP-C) is a progressive lysosomal lipid storage disease caused by mutations in the NPC1 and NPC2 genes. NPC1 is essential for transp
Item Description:Gesehen am 04.05.2020
Physical Description:Online Resource
ISSN:1460-2083
DOI:10.1093/hmg/ddw204