The point mutation of the cholesterol trafficking membrane protein NPC1 may affect its proper function in more than a single step: Molecular dynamics simulation study.
Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R Present the ""Variant"" Biochemical Phenotype of Niemann-Pick Type C1 Disease.
Anaplasma phagocytophilum Hijacks Flotillin and NPC1 Complex To Acquire Intracellular Cholesterol for Proliferation Which Can Be Inhibited with Ezetimibe.
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