What The Niemann-Pick Type C Gene Has Taught Us about Cholesterol Transport
作者： Edward B. Neufeld
DOI: 10.1007/978-1-4615-5113-3_7
关键词:
摘要: Niemann-Pick Type C disease (NP-C) is characterized by abnormal accumulation of endocytosed cholesterol in lysosomes and the Golgi complex delayed induction cellular homeostatic responses to cholesterol. Positional complementation cloning has recently identified both human NPC1 syntenic mouse Npc1 genes. Complementation analysis shown that a second mutant gene, designated NPC2, produces an identical phenotype. The notable defect NP-C involves impaired trafficking lysosomally-derived plasma membrane endoplasmic reticulum. Defective enrichment regulatory sterol pools reticulum delays responses. Current evidence suggests two NPC proteins may: (i) mediate transport endocytically-derived from (ii) be linked regulation anterograde retrograde transport. In addition disruptions metabolism, glycolipids along protein-mediated pathway may play role neuropathology associated with disease. Future studies genes their products will provide insight into relationship between glycolipid trafficking.
springer.com
sci-hub.st 参考文章(55)
P Pentchev, C Rodriguez-Lafrasse, M T Vanier, S Duthel, E D Carstea, Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. American Journal of Human Genetics. ,vol. 58, pp. 118- 125 ,(1996)
Jun Tohyama, Mitsuhiro Kato, Tatsuya Koeda, Kousaku Ohno, Type C Niemann-Pick disease. Detection and quantification of cholesterol-accumulating cells in bone marrow. Brain & Development. ,vol. 15, pp. 316- 317 ,(1993) , 10.1016/0387-7604(93)90033-5
P G Pentchev, H S Kruth, M E Comly, M Proestel, H Weintroub, S Patel, The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease. Journal of Biological Chemistry. ,vol. 261, pp. 2772- 2777 ,(1986) , 10.1016/S0021-9258(17)35852-0
R Charles Scriver, The Metabolic and Molecular Bases of Inherited Disease ,(1995)
Y. Lange, F. Strebel, T.L. Steck, Role of the plasma membrane in cholesterol esterification in rat hepatoma cells. Journal of Biological Chemistry. ,vol. 268, pp. 13838- 13843 ,(1993) , 10.1016/S0021-9258(19)85179-7
I Tabas, W J Rosoff, G C Boykow, Acyl coenzyme A:cholesterol acyl transferase in macrophages utilizes a cellular pool of cholesterol oxidase-accessible cholesterol as substrate. Journal of Biological Chemistry. ,vol. 263, pp. 1266- 1272 ,(1988) , 10.1016/S0021-9258(19)57295-7
L Liscum, J R Faust, Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts. Journal of Biological Chemistry. ,vol. 262, pp. 17002- 17008 ,(1987) , 10.1016/S0021-9258(18)45483-X
P. G. Pentchev, M. E. Comly, H. S. Kruth, T. Tokoro, J. Butler, J. Sokol, M. Filling‐Katz, J. M. Quirk, D. C. Marshall, S. Patel, M. T. Vanier, R. O. Brady, Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts. The FASEB Journal. ,vol. 1, pp. 40- 45 ,(1987) , 10.1096/FASEBJ.1.1.3609608
J.D. Butler, J Blanchette-Mackie, E Goldin, R.R. O'Neill, G Carstea, C.F. Roff, M.C. Patterson, S Patel, M.E. Comly, A Cooney, Progesterone blocks cholesterol translocation from lysosomes. Journal of Biological Chemistry. ,vol. 267, pp. 23797- 23805 ,(1992) , 10.1016/S0021-9258(18)35908-8
L Urbani, R D Simoni, Cholesterol and vesicular stomatitis virus G protein take separate routes from the endoplasmic reticulum to the plasma membrane. Journal of Biological Chemistry. ,vol. 265, pp. 1919- 1923 ,(1990) , 10.1016/S0021-9258(19)39918-1