Article
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
American journal of human genetics - 1 Jun 2001
Sun X, Marks D L, Park W D, Wheatley C L, Puri V, O'Brien J F, Kraft D L, Lundquist P A, Patterson M C, Pagano R E, Snow K
Abstract excerpt
Niemann-Pick disease type C (NPC) is a fatal, autosomal recessive lipidosis characterized by lysosomal accumulation of unesterified cholesterol and multiple neurological symptoms, such as vertical supranuclear ophthalmoplegia, progressive ataxia, and dementia. More than 90% of cases of NPC are due to a defect in Niemann-Pick C1 (NPC1), a late endosomal, integral membrane protein that plays a role in cholesterol...
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