Abstract
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.
Publication types
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Historical Article
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Review
MeSH terms
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Animals
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Biomedical Research*
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Carrier Proteins / genetics
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Carrier Proteins / metabolism*
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Cholesterol / metabolism
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Cloning, Molecular
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Disease Models, Animal
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History, 20th Century
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History, 21st Century
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Humans
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International Cooperation
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Intracellular Signaling Peptides and Proteins
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Membrane Glycoproteins / genetics
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Membrane Glycoproteins / metabolism*
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Mice / genetics*
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Niemann-Pick C1 Protein
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Niemann-Pick Diseases / genetics*
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Niemann-Pick Diseases / history
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Niemann-Pick Diseases / metabolism*
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Niemann-Pick Diseases / pathology
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Sphingomyelin Phosphodiesterase / metabolism
Substances
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Carrier Proteins
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Intracellular Signaling Peptides and Proteins
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Membrane Glycoproteins
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NPC1 protein, human
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Niemann-Pick C1 Protein
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Cholesterol
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Sphingomyelin Phosphodiesterase