Journal
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
Volume 1685, Issue 1-3, Pages 3-7Publisher
ELSEVIER
DOI: 10.1016/j.bbalip.2004.08.005
Keywords
cholesterol; cholesteol transport; Niemann-Pick C; positional cloning; sphingomyelinase
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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-Cl 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-Cl protein. (C) 2004 Elsevier B.V All rights reserved.
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