Niemann-Pick C disease: cholesterol handling gone awry.
暂无分享,去创建一个
[1] M. Dobson,et al. The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. , 1998, American journal of human genetics.
[2] K. Nakashima,et al. Increased levels of GM2 ganglioside in fibroblasts from a patient with juvenile Niemann–Pick disease type C , 1998, Brain and Development.
[3] T. Katsumoto,et al. Accumulation of cholesterol and GM2 ganglioside in cells cultured in the presence of progesterone: an implication for the basic defect in Niemann-Pick disease type C , 1998, Brain and Development.
[4] R. Brady,et al. Intracellular trafficking of the free cholesterol derived from LDL cholesteryl ester is defective in vivo in Niemann-Pick C disease: insights on normal metabolism of HDL and LDL gained from the NP-C mutation. , 1997, Journal of lipid research.
[5] S. Walkley,et al. GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C , 1997, Acta Neuropathologica.
[6] P. Pentchev,et al. Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann‐Pick disease type C mice , 1997, Journal of neuroscience research.
[7] W. Pavan,et al. Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. , 1997, Science.
[8] K. G. Coleman,et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. , 1997, Science.
[9] J. Goldstein,et al. The SREBP Pathway: Regulation of Cholesterol Metabolism by Proteolysis of a Membrane-Bound Transcription Factor , 1997, Cell.
[10] J. Pitha,et al. Intracellular Trafficking of Cholesterol Monitored with a Cyclodextrin* , 1996, The Journal of Biological Chemistry.
[11] S. Walkley. Pyramidal neurons with ectopic dendrites in storage diseases exhibit increased GM2 ganglioside immunoreactivity , 1995, Neuroscience.
[12] D. Spillane,et al. Translocation of both lysosomal LDL-derived cholesterol and plasma membrane cholesterol to the endoplasmic reticulum for esterification may require common cellular factors involved in cholesterol egress from the acidic compartments (lysosomes/endosomes). , 1995, Biochimica et biophysica acta.
[13] C R Scriver,et al. Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin. , 1994, Pediatric neurology.
[14] S. Steinberg,et al. Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. , 1994, Journal of medical genetics.
[15] J. Vandekerckhove,et al. The residues Leu(Ile)475-Ile(Leu, Val, Ala)476, contained in the extended carboxyl cytoplasmic tail, are critical for targeting of the resident lysosomal membrane protein LIMP II to lysosomes. , 1994, The Journal of biological chemistry.
[16] R. Brady,et al. The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol. , 1994, Biochimica et biophysica acta.
[17] T. Koeda,et al. Type C Niemann-Pick disease Detection and quantification of cholesterol-accumulating cells in bone marrow , 1993, Brain and Development.
[18] P. Pentchev,et al. Differential accumulation of cholesterol in Golgi compartments of normal and Niemann-Pick type C fibroblasts incubated with LDL: a cytochemical freeze-fracture study. , 1993, Journal of lipid research.
[19] R. Schiffmann,et al. The effect of cholesterol‐lowering agents on hepatic and plasma cholesterol in Niemann‐Pick disease type C , 1993, Neurology.
[20] S. Sato,et al. A clinical staging classification for type C Niemann‐Pick disease , 1992, Neurology.
[21] M. Patterson,et al. Progesterone blocks cholesterol translocation from lysosomes. , 1992, The Journal of biological chemistry.
[22] E. Nanba,et al. A cell line derived from sphingomyelinosis mouse shows alterations in intracellular cholesterol metabolism similar to those in type C Niemann-Pick disease. , 1992, Cell structure and function.
[23] M. Morgan,et al. Niemann-Pick type II fibroblasts exhibit impaired cholesterol esterification in response to sphingomyelin hydrolysis. , 1992, Biochimica et biophysica acta.
[24] T. Koeda,et al. [A case of type C Niemann-Pick disease]. , 1990, No to hattatsu = Brain and development.
[25] R. Rousson,et al. Abnormal cholesterol metabolism in imipramine-treated fibroblast cultures. Similarities with Niemann-Pick type C disease. , 1990, Biochimica et biophysica acta.
[26] D. Cogan,et al. Clinical spectrum of Niemann‐Pick disease type C , 1989, Neurology.
[27] L. Liscum,et al. The intracellular transport of low density lipoprotein-derived cholesterol is inhibited in Chinese hamster ovary cells cultured with 3-beta-[2-(diethylamino)ethoxy]androst-5-en-17-one. , 1989, The Journal of biological chemistry.
[28] L. Liscum,et al. The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts , 1989, The Journal of cell biology.
[29] R. Brady,et al. Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[30] R. Brady,et al. Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. , 1988, The Journal of biological chemistry.
[31] R. Brady,et al. Group C Niemann‐Pick disease: faulty regulation of low‐density lipoprotein uptake and cholesterol storage in cultured fibroblasts , 1987, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[32] M. Brown,et al. A receptor-mediated pathway for cholesterol homeostasis. , 1986, Science.
[33] S. Patel,et al. 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. , 1986, The Journal of biological chemistry.
[34] T. Starzl,et al. Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation. , 1986, Pediatrics.
[35] R. Brady,et al. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. , 1985, Proceedings of the National Academy of Sciences of the United States of America.
[36] R. Brady,et al. A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol. , 1984, The Journal of biological chemistry.
[37] H. Shio,et al. Lysosome lipid storage disorder in NCTR-BALB/c mice. II. Morphologic and cytochemical studies. , 1982, The American journal of pathology.
[38] T. Kitagawa,et al. Sphingomyelinosis, a new mutation in the mouse: a model of Niemann-Pick disease in humans. , 1982, The Journal of heredity.
[39] H. Shio,et al. Lysosome lipid storage disorder in NCTR-BALB/c mice. I. Description of the disease and genetics. , 1982, The American journal of pathology.
[40] E. Winsor,et al. Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D). , 1978, American journal of human genetics.
[41] A. Tanaka. [Acid lipase deficiency (Wolman disease and cholesteryl ester storage disease: CESD)]. , 1998, Ryoikibetsu shokogun shirizu.
[42] E. Carstea,et al. Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. , 1996, American journal of human genetics.
[43] R. Brady,et al. Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport. , 1991, Developmental neuroscience.