Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization. [electronic resource]
- Scientific reports 03 2019
- 5292 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
2045-2322
10.1038/s41598-019-41707-y doi
Animals Biomarkers--analysis COS Cells Calnexin--analysis Chlorocebus aethiops Cholesterol--metabolism Endocytosis--genetics Endoplasmic Reticulum--metabolism Intracellular Signaling Peptides and Proteins--genetics Intravital Microscopy Lysosomal-Associated Membrane Protein 2--analysis Lysosomes--metabolism Microscopy, Confocal Mutagenesis, Site-Directed Mutation Niemann-Pick C1 Protein Niemann-Pick Disease, Type C--diagnosis Precision Medicine--methods Protein Binding--genetics Protein Domains--genetics