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: | , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
4 July 2016
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| 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 |
| 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 |
| 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 |
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| Item Description: | Gesehen am 04.05.2020 |
| Physical Description: | Online Resource |
| ISSN: | 1460-2083 |
| DOI: | 10.1093/hmg/ddw204 |