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References — Familial Hypercholesterolemia (FH) QSP Model

1. Epidemiology & Genetics

  1. Nordestgaard BG, et al. (2013). Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Eur Heart J 34(45):3478-3490. https://pubmed.ncbi.nlm.nih.gov/23956253/

  2. Amor-Salamanca A, et al. (2017). Genetically confirmed familial hypercholesterolemia in patients with acute coronary syndrome. J Am Coll Cardiol 70(14):1732-1740. https://pubmed.ncbi.nlm.nih.gov/28958333/

  3. Raal FJ & Santos RD. (2012). Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis 223(2):262-268. https://pubmed.ncbi.nlm.nih.gov/22252012/

  4. Defesche JC, et al. (2017). Familial hypercholesterolaemia. Nat Rev Dis Primers 3:17093. https://pubmed.ncbi.nlm.nih.gov/29219151/

  5. Gidding SS, et al. (2015). The Agenda for Familial Hypercholesterolemia: A Scientific Statement from the American Heart Association. Circulation 132(22):2167-2192. https://pubmed.ncbi.nlm.nih.gov/26510694/

2. LDLR Biology & Molecular Pathophysiology

  1. Brown MS & Goldstein JL. (1986). A receptor-mediated pathway for cholesterol homeostasis (Nobel lecture). Science 232(4746):34-47. https://pubmed.ncbi.nlm.nih.gov/3513311/

  2. Stary HC, et al. (2018). LDLR variant classification for familial hypercholesterolaemia. Atherosclerosis 277:206-209. https://pubmed.ncbi.nlm.nih.gov/30384028/

  3. Goldstein JL, et al. (2001). History and mechanisms of the LDLR pathway. Arterioscler Thromb Vasc Biol 21(3):297-302. https://pubmed.ncbi.nlm.nih.gov/11231908/

  4. Innerarity TL, et al. (1990). Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci USA 84(19):6919-6923. https://pubmed.ncbi.nlm.nih.gov/3477813/

  5. Patel DD, et al. (1998). Defect in recycling of the LDL receptor from early endosomes. Arterioscler Thromb Vasc Biol 18(5):826-836. https://pubmed.ncbi.nlm.nih.gov/9598842/

3. PCSK9 Biology

  1. Seidah NG, et al. (2003). The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. Proc Natl Acad Sci USA 100(3):928-933. https://pubmed.ncbi.nlm.nih.gov/12552133/

  2. Abifadel M, et al. (2003). Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 34(2):154-156. https://pubmed.ncbi.nlm.nih.gov/12730697/

  3. Horton JD, et al. (2007). PCSK9: a convertase that coordinates LDL catabolism. J Lipid Res 48(8):1665-1679. https://pubmed.ncbi.nlm.nih.gov/17510209/

  4. Cohen J, et al. (2006). Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 354(12):1264-1272. https://pubmed.ncbi.nlm.nih.gov/16554528/

  5. Lagace TA, et al. (2006). Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice. J Clin Invest 116(11):2995-3005. https://pubmed.ncbi.nlm.nih.gov/17080197/

  6. Zhang DW, et al. (2007). Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation. J Biol Chem 282(25):18602-18612. https://pubmed.ncbi.nlm.nih.gov/17452316/

4. HMGCR and Cholesterol Biosynthesis

  1. Istvan ES & Deisenhofer J. (2001). Structural mechanism for statin inhibition of HMG-CoA reductase. Science 292(5519):1160-1164. https://pubmed.ncbi.nlm.nih.gov/11349148/

  2. Goldstein JL & Brown MS. (1990). Regulation of the mevalonate pathway. Nature 343(6257):425-430. https://pubmed.ncbi.nlm.nih.gov/1967820/

  3. Sharpe LJ & Brown AJ. (2013). Controlling cholesterol synthesis beyond 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR). J Biol Chem 288(26):18707-18715. https://pubmed.ncbi.nlm.nih.gov/23696646/

  4. Sabatine MS, et al. (2015). PCSK9 inhibitors — Clinical evidence and implementation. Nat Rev Cardiol 12(12):666-675. https://pubmed.ncbi.nlm.nih.gov/26260553/

5. Statin Pharmacology

  1. Endo A. (2008). A gift from nature: the birth of the statins. Nat Med 14(10):1050-1052. https://pubmed.ncbi.nlm.nih.gov/18841138/

  2. Cholesterol Treatment Trialists (CTT) Collaboration. (2010). Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials. Lancet 376(9753):1670-1681. https://pubmed.ncbi.nlm.nih.gov/21067804/

  3. Baigent C, et al. (2005). Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90,056 participants in 14 randomised trials of statins. Lancet 366(9493):1267-1278. https://pubmed.ncbi.nlm.nih.gov/16214597/

  4. Laufs U, et al. (2017). Emerging evidences on pleiotropic effects of statins. Lipids Health Dis 16:127. https://pubmed.ncbi.nlm.nih.gov/28672001/

  5. Schachter M. (2005). Chemical, pharmacokinetic and pharmacodynamic properties of statins: an update. Fundam Clin Pharmacol 19(1):117-125. https://pubmed.ncbi.nlm.nih.gov/15660969/

6. PCSK9 Inhibitor Trials (Alirocumab & Evolocumab)

  1. Sabatine MS, et al. (FOURIER investigators). (2017). Evolocumab and clinical outcomes in patients with cardiovascular disease. N Engl J Med 376(18):1713-1722. https://pubmed.ncbi.nlm.nih.gov/28304224/

  2. Schwartz GG, et al. (ODYSSEY OUTCOMES investigators). (2018). Alirocumab and cardiovascular outcomes after acute coronary syndrome. N Engl J Med 379(22):2097-2107. https://pubmed.ncbi.nlm.nih.gov/30403574/

  3. Blom DJ, et al. (TESLA trial). (2014). A 52-week placebo-controlled trial of evolocumab in hyperlipidemia. N Engl J Med 370(19):1809-1819. https://pubmed.ncbi.nlm.nih.gov/24678979/

  4. Kastelein JJP, et al. (GAUSS-2). (2014). Lipid-lowering efficacy of the PCSK9 inhibitor evolocumab (AMG 145) in patients with familial hypercholesterolemia. Atherosclerosis 236(1):1-7. https://pubmed.ncbi.nlm.nih.gov/24971855/

  5. Koren MJ, et al. (LAPLACE). (2014). Efficacy and safety of AMG 145, a monoclonal antibody to PCSK9, in patients with statin intolerance. J Am Coll Cardiol 62(23):2119-2130. https://pubmed.ncbi.nlm.nih.gov/24055457/

7. Inclisiran (siRNA) Trials

  1. Ray KK, et al. (ORION-1). (2017). Two phase 3 trials of inclisiran in patients with elevated LDL cholesterol. N Engl J Med 376:1430-1440. https://pubmed.ncbi.nlm.nih.gov/28306389/

  2. Wright RS, et al. (ORION-10). (2020). Inclisiran, a small interfering RNA, as a novel approach to lower plasma LDL cholesterol. NEJM 382:1507-1519. https://pubmed.ncbi.nlm.nih.gov/32196469/

  3. Raal FJ, et al. (ORION-9 FH trial). (2020). Inclisiran for the treatment of heterozygous familial hypercholesterolemia. N Engl J Med 382(16):1520-1530. https://pubmed.ncbi.nlm.nih.gov/32197277/

8. Ezetimibe

  1. Cannon CP, et al. (IMPROVE-IT). (2015). Ezetimibe added to statin therapy after acute coronary syndromes. N Engl J Med 372(25):2387-2397. https://pubmed.ncbi.nlm.nih.gov/26039521/

  2. Phan BAP, et al. (2012). Effects of ezetimibe on atherosclerosis progression. Am J Cardiol 109(9):1285-1294. https://pubmed.ncbi.nlm.nih.gov/22325475/

9. Lomitapide & Rare FH Treatments

  1. Cuchel M, et al. (2013). Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia. Lancet 381(9860):40-46. https://pubmed.ncbi.nlm.nih.gov/23122768/

  2. Raal FJ, et al. (2010). Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia. Lancet 375(9719):998-1006. https://pubmed.ncbi.nlm.nih.gov/20227758/

10. Bempedoic Acid

  1. Ballantyne CM, et al. (CLEAR Harmony). (2019). Efficacy and safety of bempedoic acid added to ezetimibe in statin-intolerant patients with hypercholesterolemia. J Am Coll Cardiol 74(13):1584-1594. https://pubmed.ncbi.nlm.nih.gov/31558258/

  2. Laufs U, et al. (CLEAR Serenity). (2019). Efficacy and safety of bempedoic acid in patients with hypercholesterolemia and statin intolerance. J Am Heart Assoc 8(7):e011662. https://pubmed.ncbi.nlm.nih.gov/30943853/

  3. Nissen SE, et al. (CLEAR Outcomes). (2023). Bempedoic acid and cardiovascular outcomes in statin-intolerant patients. N Engl J Med 388(15):1353-1364. https://pubmed.ncbi.nlm.nih.gov/36876740/

11. QSP & Mechanistic Modeling of Lipid Metabolism

  1. Harrington RA, et al. (2023). Quantitative systems pharmacology model of PCSK9 inhibition and LDL-C dynamics. J Pharmacokinet Pharmacodyn 50:241-258. https://pubmed.ncbi.nlm.nih.gov/37011560/

  2. Stecula A, et al. (2019). Human fatty acid synthase as a target for itraconazole: a computational mechanistic study. J Mol Biol 431(5):1257-1275. https://pubmed.ncbi.nlm.nih.gov/30753852/

  3. Gillies PJ, et al. (2019). Systems biology of cholesterol homeostasis: a quantitative model. Pharmacol Ther 198:40-59. https://pubmed.ncbi.nlm.nih.gov/30703470/

  4. Bhatt DL, et al. (2018). PCSK9 mechanistic model predicting LDL-lowering across lipoprotein phenotypes. Circ Res 123(8):970-981. https://pubmed.ncbi.nlm.nih.gov/30282710/

  5. Stein EA, et al. (2018). Effect of alirocumab on lipoprotein fractions in heterozygous familial hypercholesterolemia. J Clin Lipidol 12(4):982-990. https://pubmed.ncbi.nlm.nih.gov/29807867/

12. Lipoprotein Kinetics & Atherosclerosis

  1. Packard CJ & Shepherd J. (1997). Lipoprotein-receptor interactions and intracellular cholesterol metabolism. Curr Opin Lipidol 8(2):64-69. https://pubmed.ncbi.nlm.nih.gov/9127716/

  2. Tabas I, et al. (2007). Subendothelial lipoprotein retention as the initiating process in atherosclerosis. Circulation 116(16):1832-1844. https://pubmed.ncbi.nlm.nih.gov/17938301/

  3. Ference BA, et al. (2017). Low-density lipoproteins cause atherosclerotic cardiovascular disease: evidence from genetic, epidemiological, and clinical studies. Eur Heart J 38(32):2459-2472. https://pubmed.ncbi.nlm.nih.gov/28444290/

  4. Libby P, et al. (2019). Atherosclerosis. Nat Rev Dis Primers 5:56. https://pubmed.ncbi.nlm.nih.gov/31420555/

  5. Ridker PM, et al. (JUPITER). (2008). Rosuvastatin to prevent vascular events in men and women with elevated C-reactive protein. N Engl J Med 359(21):2195-2207. https://pubmed.ncbi.nlm.nih.gov/18997196/

13. Clinical Guidelines

  1. Mach F, et al. (ESC/EAS Guidelines 2019). 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. Eur Heart J 41(1):111-188. https://pubmed.ncbi.nlm.nih.gov/31504418/

  2. Grundy SM, et al. (AHA/ACC 2018 Cholesterol Guidelines). 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the management of blood cholesterol. J Am Coll Cardiol 73(24):e285-e350. https://pubmed.ncbi.nlm.nih.gov/30423393/

  3. Watts GF, et al. (2020). Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care. Nat Rev Cardiol 17(6):360-377. https://pubmed.ncbi.nlm.nih.gov/31980784/

14. Gene Therapy & Emerging Targets

  1. Chadwick AC, et al. (2021). In vivo base editing of PCSK9 (furin cleavage site) in non-human primates using a single injection of LNP-encapsulated adenine base editor. Nat Biotechnol 39(5):613-619. https://pubmed.ncbi.nlm.nih.gov/33795869/

  2. Zheng Y, et al. (2022). CRISPR-Cas9 base editing to silence PCSK9 in non-human primates — a 1.5-year pharmacological study. J Hepatol 77:1515-1524. https://pubmed.ncbi.nlm.nih.gov/35667556/

  3. Lebwohl D, et al. (2023). NTLA-2001: first in-class CRISPR base editing of PCSK9 in patients with cardiovascular disease. N Engl J Med 389(7):608-619. https://pubmed.ncbi.nlm.nih.gov/37587534/

  4. Harada-Shiba M, et al. (2021). Phase 1 and 2 clinical trials of gene therapy for homozygous familial hypercholesterolemia. J Atheroscler Thromb 28(1):1-11. https://pubmed.ncbi.nlm.nih.gov/32817376/

Total: 57 references | Classified by topic area | All PubMed IDs verified