The NP-C gene: A key to pathways of intracellular cholesterol transport
The NP-C gene: A key to pathways of intracellular cholesterol transport
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DOI：
10.1016/0962-8924(94)90086-8
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发表时间：
1994-01-01
影响因子：
19
通讯作者：
Dawidowicz, Eliezar A.
中科院分区：
文献类型：
--
作者：
Pentchev, Peter G.;Blanchette-Mackie, E. Joan;Dawidowicz, Eliezar A.
阐明胆固醇的细胞内转运途径是细胞生物学中一个重要但难以实现的目标。对人类疾病尼曼-匹克C（NP-C）中细胞缺陷的分析为这一问题提供了见解。来源于低密度脂蛋白的胆固醇在NP-C细胞的溶酶体中积累，显然是因为这种胆固醇的细胞内运动被阻断。NP-C基因的鉴定将为细胞内胆固醇转运机制提供重要的分子线索。
Elucidation of the pathways for intracellular transport of cholesterol is an important yet elusive goal in cell biology. Analysis of the cellular defects in the human disease Niemann-Pick C (NP-C) is providing insights into this problem. Cholesterol derived from low-density lipoprotein accumulates in lysosomes of NP-C cells, apparently because intracellular movement of such cholesterol is blocked. Identification of the NP-C gene should provide crucial molecular clues to the mechanism of cholesterol transport within cells.