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Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice.
- TR Number: 4114
- Authors: Xuefen Xie, Michael S. Brown, John M. Shelton, James A. Richardso, Joseph L. Goldstein, and Guosheng Liang
- Keywords: Cholesterol binding domain, cyclodextrin, knockin mutation, lysosomal storage disease, Niemann-Pick disease
- Institution: University of Texas Southwest Medical Center
- Link to Article: http://www.ncbi.nlm.nih.gov/pubmed/21896731
- Part Number Cited: 35-mm glass-bottom dish (MatTek, catalog no. P35G-1.5-14-C)
- Microscopy Technique: Immunofluorescence
- Pub Name: PNAS
- Volume: 108
- Issue: 37
- Year: 2011
- Cell Line: fibroblasts
- Part No: P35G-1.5-14-C
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