Niemann-Pick C research from mouse to gene |
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| Authors: | Pentchev Peter G |
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| Institution: | NIH, Building 10, Rm. 3D-12 10m Center Drive, Bethesda, MD 20892, USA. pentchev@codon.nih.gov |
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| 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. |
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