1. Kunkel, Thaddeus J, Townsend, Alice, Sullivan, Kyle A, Jacobson, Daniel A, Lieberman, Andrew P. 2023. The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells. In Nature communications, 14, 3964. doi:10.1038/s41467-023-39733-6. https://pubmed.ncbi.nlm.nih.gov/37407594/
2. Zhao, Wenfeng, Zhang, Qing, Wang, Jiawen, Huang, Jiang, Gao, Yuzhen. 2022. Novel Indel Variation of NPC1 Gene Associates With Risk of Sudden Cardiac Death. In Frontiers in genetics, 13, 869859. doi:10.3389/fgene.2022.869859. https://pubmed.ncbi.nlm.nih.gov/35480314/
3. Hughes, Michael Paul, Nelvagal, Hemanth Ramesh, Coombe-Tennant, Oliver, Platt, Frances Mary, Rahim, Ahad Abdul. 2023. A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease. In Cells, 12, . doi:10.3390/cells12121619. https://pubmed.ncbi.nlm.nih.gov/37371089/
4. Jia, Zisen, Yang, Minlin, Zhao, Yanchun, Lin, Juntang, Guan, Lihong. 2022. CRISPR-Cas9-Mediated NPC1 Gene Deletion Enhances HEK 293 T Cell Adhesion by Regulating E-Cadherin. In Molecular biotechnology, 65, 252-262. doi:10.1007/s12033-022-00503-2. https://pubmed.ncbi.nlm.nih.gov/35587334/
5. Flores-Dorantes, María Teresa, Díaz-López, Yael Efren, Gutiérrez-Aguilar, Ruth. 2020. Environment and Gene Association With Obesity and Their Impact on Neurodegenerative and Neurodevelopmental Diseases. In Frontiers in neuroscience, 14, 863. doi:10.3389/fnins.2020.00863. https://pubmed.ncbi.nlm.nih.gov/32982666/
6. Erwood, Steven, Bily, Teija M I, Lequyer, Jason, Ivakine, Evgueni A, Cohn, Ronald D. 2022. Saturation variant interpretation using CRISPR prime editing. In Nature biotechnology, 40, 885-895. doi:10.1038/s41587-021-01201-1. https://pubmed.ncbi.nlm.nih.gov/35190686/
7. Liu, Bei, Hua, Duanyi, Shen, Linyan, Gu, Yanyun, Ning, Guang. 2024. NPC1 is required for postnatal islet β cell differentiation by maintaining mitochondria turnover. In Theranostics, 14, 2058-2074. doi:10.7150/thno.90946. https://pubmed.ncbi.nlm.nih.gov/38505613/
8. Guan, Lihong, Jia, Zisen, Xu, Keli, Liu, Yanli, Lin, Juntang. 2023. Npc1 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis. In Animal genetics, 55, 99-109. doi:10.1111/age.13381. https://pubmed.ncbi.nlm.nih.gov/38087834/