Niemann-Pick C research from mouse to gene.
Understanding the molecular basis of Niemann-Pick C (NP-C) disease took decades of struggle. Here I describe our early efforts to unravel the complex lipid storage found in NP-C tissues, and how the mouse model for NP-C pointed us in the right direction. Our success in cloning the NP-C1 gene in 1997 can be attributed to collaboration between an international body of scientists and families coping with NP-C disease. The next challenge is to delineate the biological function of the NP-C1 protein.
NIH, Building 10, Rm. 3D-12 10m Center Drive, Bethesda, MD 20892, USA. pentchev@codon.nih.gov
Peter G
PG
Pentchev
D000818:Animals; D035843:Biomedical Research; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism*; D002784:Cholesterol / Q000378:metabolism; D003001:Cloning, Molecular; D004195:Disease Models, Animal; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D007391:International Cooperation; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins / Q000235:genetics / Q000378:metabolism*; D051379:Mice / Q000235:genetics*; D000077296:Niemann-Pick C1 Protein; D009542:Niemann-Pick Diseases / Q000235:genetics* / Q000266:history / Q000378:metabolism* / Q000473:pathology; D013108:Sphingomyelin Phosphodiesterase / Q000378:metabolism
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein; D002784:Cholesterol; D013108:Sphingomyelin Phosphodiesterase