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Distribution of mutations in NPC1. (A) Missense mutations and in frame... | Download Scientific Diagram
![Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1 | Scientific Reports Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1 | Scientific Reports](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41598-020-75919-4/MediaObjects/41598_2020_75919_Fig1_HTML.png)
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1 | Scientific Reports
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Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol: Cell
NPC1 protein structure and variants. The structure of NPC1 (PDB 5U73)... | Download Scientific Diagram
![A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1 | BMC Biology | Full Text A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1 | BMC Biology | Full Text](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs12915-021-01133-x/MediaObjects/12915_2021_1133_Figa_HTML.png)
A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1 | BMC Biology | Full Text
![Cells | Free Full-Text | Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems Cells | Free Full-Text | Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems](https://www.mdpi.com/cells/cells-11-00319/article_deploy/html/images/cells-11-00319-g001.png)
Cells | Free Full-Text | Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems
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NPC1 enables cholesterol mobilization during long‐term potentiation that can be restored in Niemann–Pick disease type C by CYP46A1 activation | EMBO reports
![Crystal structure of the NPC1 protein and structural details of its... | Download Scientific Diagram Crystal structure of the NPC1 protein and structural details of its... | Download Scientific Diagram](https://www.researchgate.net/publication/318992512/figure/fig1/AS:525517875302400@1502304633025/Crystal-structure-of-the-NPC1-protein-and-structural-details-of-its-CTD-A-Schematic.png)
Crystal structure of the NPC1 protein and structural details of its... | Download Scientific Diagram
![JCM | Free Full-Text | Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants JCM | Free Full-Text | Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants](https://www.mdpi.com/jcm/jcm-09-00679/article_deploy/html/images/jcm-09-00679-g003.png)
JCM | Free Full-Text | Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants
Science Mission - Immune signaling boost may cause Niemann-Pick disease type C, a neurodegenerative disease When the Npc1 gene is mutated, cholesterol isn't sent where it's needed in cells, causing the progressive
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Identification of NPC1 as the target of U18666A, an inhibitor of lysosomal cholesterol export and Ebola infection | eLife
![Modelling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation | bioRxiv Modelling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation | bioRxiv](https://www.biorxiv.org/content/biorxiv/early/2019/10/10/801019/F3.large.jpg)
Modelling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation | bioRxiv
![NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes | PNAS NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes | PNAS](https://www.pnas.org/cms/10.1073/pnas.0807328105/asset/62702758-adb3-4979-a862-91f9963a9503/assets/graphic/zpq9990848420006.jpeg)
NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes | PNAS
![Plasmid DNA gene therapy of the Niemann-Pick C1 mouse with transferrin receptor-targeted Trojan horse liposomes | Scientific Reports Plasmid DNA gene therapy of the Niemann-Pick C1 mouse with transferrin receptor-targeted Trojan horse liposomes | Scientific Reports](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41598-020-70290-w/MediaObjects/41598_2020_70290_Fig1_HTML.png)
Plasmid DNA gene therapy of the Niemann-Pick C1 mouse with transferrin receptor-targeted Trojan horse liposomes | Scientific Reports
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