Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice
Author:
Publisher
Proceedings of the National Academy of Sciences
Subject
Multidisciplinary
Reference26 articles.
1. Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol
2. Identification of Surface Residues on Niemann-Pick C2 Essential for Hydrophobic Handoff of Cholesterol to NPC1 in Lysosomes
3. Purified NPC1 Protein
4. Structural Basis of Sterol Binding by NPC2, a Lysosomal Protein Deficient in Niemann-Pick Type C2 Disease
5. Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
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