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Pubmed ID :9211849
Publication Date : //

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.


Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)-derived cholesterol. By positional cloning methods, a gene (NPC1) with insertion, deletion, and missense mutations has been identified in NP-C patients. Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking. The 1278-amino acid NPC1 protein has sequence similarity to the morphogen receptor PATCHED and the putative sterol-sensing regions of SREBP cleavage-activating protein (SCAP) and 3-hydroxy-3-methyl-glutaryl coenzyme A (HMG-CoA) reductase.

Authors : Carstea E D , Morris J A , Coleman K G , Loftus S K , Zhang D , Cummings C , Gu J , Rosenfeld M A , Pavan W J , Krizman D B , Nagle J , Polymeropoulos M H , Sturley S L , Ioannou Y A , Higgins M E , Comly M , Cooney A , Brown A , Kaneski C R , Blanchette-Mackie E J , Dwyer N K , Neufeld E B , Chang T Y , Liscum L , Strauss J F , Ohno K , Zeigler M , Carmi R , Sokol J , Markie D , O'Neill R R , van Diggelen O P , Elleder M , Patterson M C , Brady R O , Vanier M T , Pentchev P G , Tagle D A ,

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