Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.

@article{Tamura2006NiemannPickTC,
  title={Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.},
  author={Hidetoshi Tamura and Tsutomu Takahashi and Nobuhiro Ban and Hiroyuki Torisu and Haruaki Ninomiya and Goro Takada and Nobuya Inagaki},
  journal={Molecular genetics and metabolism},
  year={2006},
  volume={87 2},
  pages={
          113-21
        }
}
Niemann-Pick type C (NPC) disease is an inherited lipid storage disorder characterized by the lysosomal accumulation of free cholesterol in affected cells. Three novel mutations in the NPC1 gene (c.3615delA, c.2000C > T, and c.2240delT) were detected in two unrelated patients with the severe phenotype of NPC. The analyses showed that the c.2240delT mutation, which causes a premature stop at codon 748, resulted in nonsense-mediated decay of the mutant transcripts. Immunoblotting analyses for the… CONTINUE READING
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