NPC1 and Niemann-Pick disease, type C1: In an attempt to improve assessment of the disease severity prognosis, we examined the impact of NPC1 gene variations on its expression, NPC1 protein level and NPC1 subcellular localization, as well as unesterified and esterified cholesterol levels in cultured skin fibroblasts from a cohort of well-characterised NP-C1 patients [3].