SYNTHESIZING LITERATURE OF LEADERSHIP, JOB SATISFACTION AND TRUST IN LEADERSHIP


Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

Abstract Background Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or the NPC2 gene.NPC1 is a multipass-transmembrane protein essential for egress of cholesterol from late endosomes/lysosomes.To evaluate impacts of NPC1 mutations, we examined fibroblast cultures from 26 NP-C1 patients with clinic

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