| Literature DB >> 15465420 |
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.Entities:
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Year: 2004 PMID： 15465420 DOI： 10.1016/j.bbalip.2004.08.005
Source DB: PubMed Journal: Biochim Biophys Acta ISSN： 0006-3002