|2||Inborn errors of cholesterol biosynthesis|| |
Wassif, C. A., et al. "Biochemical, Phenotypic and Neurophysiological Characterization of a Genetic Mouse Model of RSH/Smith-Lemli-Opitz Syndrome." Hum Mol Genet 10 (2001): 555-564.
Cooper, M. K., C. A. Wassif, P. A. Krakowiak, J. Taipale, R. Gong, R. I. Kelley, F. D. Porter, and P. A. Beachy. "A Defective Response to Hedgehog Signaling in Disorders of Cholesterol Biosynthesis." Nat Genet 33 (2003): 508-513.
|3||LDL receptor endocytosis, familial hypercholesterolemia|| |
Brown, M. S., and J. L. Goldstein. "Familial Hypercholesterolemia: Defective Binding of Lipoproteins to Cultured Fibroblasts Associated with Impaired Regulation of 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Activity." PNAS 71 (1974): 788-92.
Ishibashi, S., M. S. Brown, J. L. Goldstein, R. D. Gerard, R. E. Hammer, and J. Herz. "Hypercholesterolemia in Low Density Lipoprotein Receptor Knockout Mice and its Reversal by Adenovirus-mediated Gene Delivery." J Clin Invest 92 (1993): 883-893.
|4||Cholesterol sensing in the cells|| |
Yang, T., P. J. Espenshade, M. E. Wright, D. Yabe, Y. Gong, R. Aebersold, J. L. Goldstein, and M. S. Brown. "Crucial Step in Cholesterol Homeostasis: Sterols Promote Binding of SCAP to INSIG-1, a Membrane Protein that Facilitates Retention of SREBPs in ER." Cell 110 (2002): 489-500.
Takaishi, K., L. Duplomb, M. Y. Wang, J. Li, and R. H. Unger. "Hepatic insig-1 or -2 Overexpression Reduces Lipogenesis in Obese Zucker Diabetic Fatty Rats and in Fasted/Refed Normal Rats." PNAS 101 (2004): 7106-7111.
Skalen, K., M. Gustafsson, E. K. Rydberg, L. M. Hulten, O. Wiklund, T. L. Innerarity, and J. Boren. "Subendothelial Retention of Atherogenic Lipoproteins in Early Atherosclerosis." Nature 417 (2002): 750-754.
Ricci, R., et al. "Requirement of JNK2 for Scavenger Receptor A-mediated Foam Cell Formation in Atherogenesis." Science 306 (2004): 1558-1561.
Endo, A., M. Kuroda, K. and Tanzawa. "Competitive Inhibition of 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase by ML-236A and ML-236B Fungal Metabolites, having Hypocholesterolemic Activity." FEBS Lett 72 (1976): 323-326.
Istvan, E. S., and J. Deisenhofer. "Structural Mechanism for Statin Inhibition of HMG-CoA Reductase." Science 292(2001): 1160-1164.
|7||Cholesterol absorption inhibitors|| |
Van Heek, M., C. F. France, D. S. Compton, R. L. McLeod, N. P. Yumibe, K. B. Alton, E. J. Sybertz, and H. R. Davis Jr. "In vivo Metabolism-based Discovery of a Potent Cholesterol Absorption Inhibitor, SCH58235, in the Rat and Rhesus Monkey through the Identification of the Active Metabolites of SCH48461." J Pharmacol Exp Ther 283 (1997): 157-163.
Altmann, S. W., et al. "Niemann-Pick C1 Like 1 Protein is Critical for Intestinal Cholesterol Absorption." Science 303 (2004): 1201-1204.
|8||Atherosclerosis and heart attack, current treatments||No papers to read. We will be going on a field trip to Beth-Israel Deaconess Medical Center today.|
|9||ABCA1, Tangier disease|| |
Rust, S., M. Rosier, H. Funke, J. Real, Z. Amoura, J. C. Piette, J. F. Deleuze, H. B. Brewer, N. Duverger, P. Denefle, and G. Assmann. "Tangier Disease is Caused by Mutations in the Gene Encoding ATP-binding Cassette Transporter 1." Nat Genet 4 (1999): 352-355.
McNeish, J., et al. "High Density Lipoprotein Deficiency and Foam Cell Accumulation in Mice with Targeted Disruption of ATP-binding Cassette Transporter-1." PNAS 97 (2000): 4245-4250.
|10||Increasing HDL, fibrates, diet|| |
Mardones, P., et al. "Fibrates Down-regulate Hepatic Scavenger Receptor Class B Type I Protein Expression in Mice." J Biol Chem 278 (2003): 7884-7890.
Williams, P. T., P. J. Blanche, R. Rawlings, and R. M. Krauss. "Concordant Lipoprotein and Weight Responses to Dietary Fat Change in Identical Twins." Am J Clin Nutr 82 (2005): 181-187.
|11||Cholesterol in the brain, Alzheimer's disease|| |
Mauch, D. H., K. Nagler, S. Schumacher, C. Goritz, E. C. Muller, A. Otto, and F. W. Pfrieger. "CNS Synaptogenesis Promoted by Glia-derived Cholesterol." Science 294, no. 5545 (2001): 1354-1357.
Howland, D. S., et al. "Modulation of Secreted Beta-amyloid Precursor Protein and Amyloid Beta-peptide in Brain by Cholesterol." J Biol Chem 273 (1998): 16576-16582.
|12||Future of drug therapies|| |
Lum, P. Y., et al. "Discovering Modes of Action for Therapeutic Compounds using a Genome-wide Screen of Yeast Heterozygotes." Cell 116 (2004): 121-137.
Gagne, C., D. Gaudet, and E. Bruckert for the Ezetimibe Study Group. "Efficacy and Safety of Ezetimibe Coadministered with Atorvastatin or Simvastatin in Patients with Homozygous Familial Hypercholesterolemia." Circulation 105 (2002): 2469-2475.
|13||Discussion of assignment 2|