Publication | Open Access

Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop

Npc1 MutationsSignal TransductionNpc1 ProteinG Protein-coupled ReceptorReceptor (Biochemistry)Molecular BiologyPathologyNiemann-pick C1 DiseaseMedicineCell Signaling