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Article

Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease

1 Feb 2003

Abstract excerpt

Niemann-Pick type C (NPC) disease is a fatal recessively inherited lysosomal cholesterol-sphingolipidosis. Mutations in the NPC1 gene cause approximately 95% of the cases, the rest being caused by NPC2 mutations. Here the molecular basis of a severe infantile form of the disease was dissected. The level of NPC1 protein in the patient fibroblasts was similar to that in control cells. However, the protein was...

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PMID: 12554680
DOI: 10.1093/hmg/ddg025

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