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COMPARATIVE STUDY OF THE EFFECT OF DISEASE CAUSING AND BENIGN MUTATIONS IN POSITION Q92 ON CHOLESTEROL BINDING BY THE NPC1 N-TERMINAL DOMAIN: The role of Q92 in CLR transport by NPC1
The Niemann-Pick type C1 (NPC1) protein is a large transmembrane protein located in lysosomes/endosomes. NPC1 binds cholesterol (CLR) and transports it to cellular membrane and endoplasmic reticulum. Mutations in NPC1 cause Niemann-Pick type C (NPC) disease, a rare autosomal disorder characterized b...
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| Veröffentlicht in: | Proteins |
|---|---|
| Hauptverfasser: | , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6251744/ https://ncbi.nlm.nih.gov/pubmed/30183109 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/prot.25597 |
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