| 1 | HMGCR, LGMDR28
|
| Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
|
| Morales-Rosado JA, Schwab TL, Macklin-Mantia SK, Foley AR, Pinto E Vairo F, Pehlivan D, Donkervoort S, Rosenfeld JA, Boyum GE, Hu Y, Cong ATQ, Lotze TE, Mohila CA, Saade D, Bharucha-Goebel D, Chao KR, Grunseich C, Bruels CC, Littel HR, Estrella EA, Pais L, Kang PB, Zimmermann MT, Lupski JR, Lee B, Schellenberg MJ, Clark KJ, Wierenga KJ, Bönnemann CG, Klee EW.
|
| Am J Hum Genet. Jun 1;110(6):989-997. doi: 10.1016/j.ajhg.2023.04.006. Epub 2023 May 10. 2023
|
| 2 | HMGCR, UBIAD1
|
| Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.
|
| Jiang SY, Tang JJ, Xiao X, Qi W, Wu S, Jiang C, Hong J, Xu J, Song BL, Luo J.
|
| PLoS Genet 15(7):e1008289. doi: 10.1371/journal.pgen.1008289. eCollection 2019 Jul.
2019
|
| 3 | HMGCR, HSP90AA1
|
| HSP90 interacts with HMGCR and promotes the progression of hepatocellular carcinoma.
|
| Dong L, Xue L, Zhang C, Li H, Cai Z, Guo R.
|
| Mol Med Rep 19(1):524-532. doi: 10.3892/mmr.2018.9667. Epub 2018 Nov 19.
2019
|
| 4 | HMGCR, SQLE
|
| New insights into cellular cholesterol acquisition: promoter analysis of human HMGCR and SQLE, two key control enzymes in cholesterol synthesis.
|
| Howe V, Sharpe LJ, Prabhu AV, Brown AJ.
|
| Biochim Biophys Acta Mol Cell Biol Lipids 1862(7):647-657. doi: 10.1016/j.bbalip.2017.03.009. Epub 2017 Mar 23.
2017
|
| 5 | FAF2, HMGCR
|
| Haploid Mammalian Genetic Screen Identifies UBXD8 as a Key Determinant of HMGCR Degradation and Cholesterol Biosynthesis.
|
| Loregger A, Raaben M, Tan J, Scheij S, Moeton M, van den Berg M, Gelberg-Etel H, Stickel E, Roitelman J, Brummelkamp T, Zelcer N.
|
| Arterioscler Thromb Vasc Biol 37(11):2064-2074. doi: 10.1161/ATVBAHA.117.310002. Epub 2017 Sep 7.
2017
|
| 6 | HMGCR
|
| HMG-CoA reductase promotes protein prenylation and therefore is indispensible for T-cell survival.
|
| Lacher SM, Bruttger J, Kalt B, Berthelet J, Rajalingam K, Wörtge S, Waisman A.
|
| Cell Death Dis 8(5):e2824. doi: 10.1038/cddis.2017.221.
2017
|
| 7 | HMGCR, PCSK9
|
| Variation in PCSK9 and HMGCR and Risk of Cardiovascular Disease and Diabetes.
|
| Ference BA, Robinson JG, Brook RD, Catapano AL, Chapman MJ, Neff DR, Voros S, Giugliano RP, Davey Smith G, Fazio S, Sabatine MS.
|
| N Engl J Med 375(22):2144-2153.
2016
|
| 8 | HMGCR
|
| HMGCR is up-regulated in gastric cancer and promotes the growth and migration of the cancer cells.
|
| Chushi L, Wei W, Kangkang X, Yongzeng F, Ning X, Xiaolei C.
|
| Gene 587(1):42-7. doi: 10.1016/j.gene.2016.04.029. Epub 2016 Apr 13.
2016
|
| 9 | HMGCR
|
| HMGCR positively regulated the growth and migration of glioblastoma cells.
|
| Qiu Z, Yuan W, Chen T, Zhou C, Liu C, Huang Y, Han D, Huang Q.
|
| Gene 576(1 Pt 1):22-7. doi: 10.1016/j.gene.2015.09.067. Epub 2015 Sep 30.
2016
|
| 10 | HMGCR
|
| Effect of HMGCR genetic variation on neuroimaging biomarkers in healthy, mild cognitive impairment and Alzheimer's disease cohorts.
|
| Cao L, Wang HF, Tan L, Sun FR, Tan MS, Tan CC, Jiang T, Yu JT, Tan L; Alzheimer’s Disease Neuroimaging Initiative.
|
| Oncotarget 7(12):13319-27. doi: 10.18632/oncotarget.7797.
2016
|
| 11 | HMGCR, SREBF2
|
| The Flavone Luteolin Suppresses SREBP-2 Expression and Post-Translational Activation in Hepatic Cells.
|
| Wong TY, Lin SM, Leung LK.
|
| PLoS One 10(8):e0135637. doi: 10.1371/journal.pone.0135637. eCollection 2015.
2015
|
| 12 | HMGCR
|
| Thyroid-stimulating hormone decreases HMG-CoA reductase phosphorylation via AMP-activated protein kinase in the liver.
|
| Zhang X, Song Y, Feng M, Zhou X, Lu Y, Gao L, Yu C, Jiang X, Zhao J.
|
| J Lipid Res 56(5):963-71. doi: 10.1194/jlr.M047654. Epub 2015 Feb 23.
2015
|
| 13 | HMGCR, MARCHF6, SQLE
|
| The E3 ubiquitin ligase MARCH6 degrades squalene monooxygenase and affects 3-hydroxy-3-methyl-glutaryl coenzyme A reductase and the cholesterol synthesis pathway.
|
| Zelcer N, Sharpe LJ, Loregger A, Kristiana I, Cook EC, Phan L, Stevenson J, Brown AJ.
|
| Mol Cell Biol 34(7):1262-70. doi: 10.1128/MCB.01140-13. Epub 2014 Jan 21.
2014
|
| 14 | HMGCR, HNRPA1
|
| HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism.
|
| Yu CY, Theusch E, Lo K, Mangravite LM, Naidoo D, Kutilova M, Medina MW.
|
| Hum Mol Genet 23(2):319-32. doi: 10.1093/hmg/ddt422. Epub 2013 Sep 2.
2014
|
| 15 | HMGCR
|
| Analysis of the protein network of cholesterol homeostasis in different brain regions: an age and sex dependent perspective.
|
| Segatto M, Di Giovanni A, Marino M, Pallottini V.
|
| J Cell Physiol 228(7):1561-7. doi: 10.1002/jcp.24315.
2013
|
| 16 | AMFR, HMGCR, INSIG1, RNF139
|
| Differential regulation of HMG-CoA reductase and Insig-1 by enzymes of the ubiquitin-proteasome system.
|
| Tsai YC, Leichner GS, Pearce MM, Wilson GL, Wojcikiewicz RJ, Roitelman J, Weissman AM.
|
| Mol Biol Cell 23(23):4484-94. doi: 10.1091/mbc.E12-08-0631. Epub 2012 Oct 19. 2012
|
| 17 | HMGCR
|
| Molecular cloning, tissue expression and protein structure prediction of the porcine 3-hydroxy-3-methylglutaryl-Coenzyme A reductase (HMGR) gene.
|
| Chen X, Wang X, Li Z, Kong L, Liu G, Fu J, Wang A.
|
| Gene 495(2):170-7. doi: 10.1016/j.gene.2011.12.051. Epub 2012 Jan 5.
2012
|
| 18 | HMGCR
|
| Regulation of HMG-CoA reductase in mammals and yeast.
|
| Burg JS, Espenshade PJ.
|
| Prog Lipid Res 50(4):403-10. doi: 10.1016/j.plipres.2011.07.002. Epub 2011 Jul 23. Review.
2011
|
| 19 | HMGCR
|
| MYC phosphorylation, activation, and tumorigenic potential in hepatocellular carcinoma are regulated by HMG-CoA reductase.
|
| Cao Z, Fan-Minogue H, Bellovin DI, Yevtodiyenko A, Arzeno J, Yang Q, Gambhir SS, Felsher DW.
|
| Cancer Res 71(6):2286-97. doi: 10.1158/0008-5472.CAN-10-3367. Epub 2011 Jan 24.
2011
|
| 20 | HMGCR, NPC1, NPC1L1, SCAP
|
| Membrane topology of human NPC1L1, a key protein in enterohepatic cholesterol absorption.
|
| Wang J, Chu BB, Ge L, Li BL, Yan Y, Song BL.
|
| J Lipid Res 50(8):1653-62. Epub 2009 Mar 26.PMID: 19325169 2009
|
| 21 | HMGCR
|
| Inhibition of HMG CoA reductase reveals an unexpected role for cholesterol during PGC migration in the mouse.
|
| Ding J, Jiang D, Kurczy M, Nalepka J, Dudley B, Merkel EI, Porter FD, Ewing AG, Winograd N, Burgess J, Molyneaux K.
|
| BMC Dev Biol 8:120. doi: 10.1186/1471-213X-8-120.
2008
|
| 22 | HMGCR
|
| Age-related HMG-CoA reductase deregulation depends on ROS-induced p38 activation.
|
| Pallottini V, Martini C, Cavallini G, Bergamini E, Mustard KJ, Hardie DG, Trentalance A.
|
| Mech Ageing Dev 128(11-12):688-95. Epub 2007 Oct 16.
2007
|
| 23 | HMGCR
|
| Ubiquitination of 3-hydroxy-3-methylglutaryl-CoA reductase in permeabilized cells mediated by cytosolic E1 and a putative membrane-bound ubiquitin ligase.
|
| Song BL, DeBose-Boyd RA.
|
| J Biol Chem 279(27):28798-806. Epub 2004 Apr 16.
2004
|
| 24 | DHCR7, HMGCR, NPC1, PTCH1, PTCH2, SCAP
|
| The sterol-sensing domain: multiple families, a unique role?
|
| Kuwabara PE, Labouesse M.
|
| Trends Genet 18(4):193-201. 2002
|
| 25 | HMGCR
|
| Genomic structure of the gene encoding human 3-hydroxy-3-methyl-glutaryl coenzyme A reductase: comparison of exon/intron organization of sterol-sensing domains among four related genes.
|
| Nakajima T, Iwaki K, Hamakubo T, Kodama T, Emi M.
|
| J Hum Genet 45(5):284-9. 2000
|
| 26 | CBFA2T3, CORO1A, EVI14, EVI15, EVI18, EVI21, HMGCR, IL17RB, RARG, RASGRP2, RUNX1, SETD1B, SOX4, ZFP36
|
| Leukaemia disease genes: large-scale cloning and pathway predictions.
|
| Li J, Shen H, Himmel KL, Dupuy AJ, Largaespada DA, Nakamura T, Shaughnessy JD Jr, Jenkins NA, Copeland NG.
|
| Nat Genet 23(3):348-53 1999
|
| 27 | HMGCR
|
| A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences.
|
| Zuliani G, et al.
|
| Am J Hum Genet 46 : 963-969. 1990
|
| 28 | HMGCR
|
| ScrFI polymorphism in the 2nd intron of the HMGCR gene.
|
| Leitersdorf E, et al.
|
| Nucleic Acids Res 18 : 5584. 1990
|
| 29 | HMGCR
|
| HgiAI polymorphism near the HMGCR promoter.
|
| Leitersdorf E, et al.
|
| Nucleic Acids Res 18 : 5584. 1990
|
| 30 | HMGCR
|
| Assignment of human 3-hydroxy-3-methylglutaryl coenzyme A reductase gene to q13-q23 region of chromosome 5.
|
| Mohandas T, et al.
|
| Somat Cell Mol Genet 12 : 89-94. 1986
|
| 31 | HMGCR
|
| The gene for HMG CoA reductase (HMGCR) is on human chromosome 5.
|
| Henry I, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 649-650. 1985
|
| 32 | HMGCR
|
| The isolation, characterisation, and chromosomal assignment of the gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase, (HGM-CoA reductase).
|
| Humphries SE, et al.
|
| Hum Genet 71 : 254-258. 1985
|
| 33 | HMGCR
|
| Human gene for HMG CoA reductase maps to 5q13.3-q14.
|
| Lindgren V, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 681. 1985
|
| 34 | HMGCR, LDLR
|
| Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes.
|
| Lindgren V, et al.
|
| Proc Natl Acad Sci U S A 82 : 8567-8571. 1985
|
| 35 | HMGCR
|
| Assignment of human 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA)reductase gene to the q13-q23 region of chromosome 5.
|
| Mohandas T, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 700. 1985
|