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Carstea, Eugene D.; Morris, Jill A.; Coleman, Katherine G.; Loftus, Stacie K.; Zhang, Dana; Cummings, Christiano; Gu, Jessie; Rosenfeld, Melissa A.; Pavan, William J.; Krizman, David B.; Nagle, James; Polymeropoulos, Mihail H.; Sturley, Stephen L.; Ioannou, Yiannis A.; Higgins, Maureen E.; Comly, Marcella; Cooney, Adele; Brown, Anthony; Kaneski, Christine R.; Blanchette-Mackie, E. Joan; Dwyer, Nancy K.; Neufeld, Edward B.; Chang, Ta-Yuan; Liscum, Laura; [...]

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

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  • Medientyp: E-Artikel
  • Titel: Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
  • Beteiligte: Carstea, Eugene D.; Morris, Jill A.; Coleman, Katherine G.; Loftus, Stacie K.; Zhang, Dana; Cummings, Christiano; Gu, Jessie; Rosenfeld, Melissa A.; Pavan, William J.; Krizman, David B.; Nagle, James; Polymeropoulos, Mihail H.; Sturley, Stephen L.; Ioannou, Yiannis A.; Higgins, Maureen E.; Comly, Marcella; Cooney, Adele; Brown, Anthony; Kaneski, Christine R.; Blanchette-Mackie, E. Joan; Dwyer, Nancy K.; Neufeld, Edward B.; Chang, Ta-Yuan; Liscum, Laura; [...]
  • Erschienen: American Society for the Advancement of Science, 1997
  • Erschienen in: Science
  • Sprache: Englisch
  • ISSN: 0036-8075; 1095-9203
  • Schlagwörter: Reports
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <p>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.</p>