1,194
Views
48
CrossRef citations to date
0
Altmetric
Review Article

Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments

, &
Pages 69-90 | Received 13 Oct 2010, Accepted 12 Nov 2010, Published online: 20 Jan 2011

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (1)

Articles from other publishers (47)

Qian Liu, Shengwen Chen, Renyun Tian, Binbin Xue, Huiyi Li, Mengmeng Guo, Shun Liu, Ming Yan, Ruina You, Luoling Wang, Di Yang, Mengyu Wan & Haizhen Zhu. (2023) 3β-hydroxysteroid-Δ24 reductase dampens anti-viral innate immune responses by targeting K27 ubiquitination of MAVS and STING. Journal of Virology.
Crossref
Sameh Obeid, Eloisa Berbel-Manaia, Valérie Nicolas, Indira Dennemont, Julien Barbier, Jean-Christophe Cintrat, Daniel Gillet, Philippe M. Loiseau & Sébastien Pomel. (2023) Deciphering the mechanism of action of VP343, an antileishmanial drug candidate, in Leishmania infantum. iScience 26:11, pages 108144.
Crossref
Jia‐Le Zhang, Meng Lv, Chao‐Fan Yang, Ying‐Xi Zhu & Chao‐Jun Li. (2023) Mevalonate pathway and male reproductive aging. Molecular Reproduction and Development 90:10-11, pages 774-781.
Crossref
Chahat Garg, Heena khan, Amarjot Kaur, Thakur Gurjeet Singh, Vivek Kumar Sharma & Sachin Kumar Singh. (2022) Therapeutic implications of sonic hedgehog pathway in metabolic disorders: Novel target for effective treatment. Pharmacological Research 179, pages 106194.
Crossref
Qingyang Shi, Jiahuan Chen, Xiaodong Zou & Xiaochun Tang. (2022) Intracellular Cholesterol Synthesis and Transport. Frontiers in Cell and Developmental Biology 10.
Crossref
Julie Gamart, Iros Barozzi, Frédéric Laurent, Robert Reinhardt, Laurène Ramos Martins, Thomas Oberholzer, Axel Visel, Rolf Zeller & Aimée Zuniga. (2021) SMAD4 target genes are part of a transcriptional network that integrates the response to BMP and SHH signaling during early limb bud patterning. Development 148:23.
Crossref
Trevor S. Tippetts, William L. Holland & Scott A. Summers. (2021) Cholesterol – the devil you know; ceramide – the devil you don’t. Trends in Pharmacological Sciences 42:12, pages 1082-1095.
Crossref
Ulaş Yavuz, Merve Alaylıoğlu, Büşra Şengül, Spyridon N. Karras, Duygu Gezen-Ak & Erdinç Dursun. (2021) Protein disulfide isomerase A3 might be involved in the regulation of 24-dehydrocholesterol reductase via vitamin D equilibrium in primary cortical neurons. In Vitro Cellular & Developmental Biology - Animal 57:7, pages 704-714.
Crossref
Eva Kočar, Tadeja Režen & Damjana Rozman. (2021) Cholesterol, lipoproteins, and COVID-19: Basic concepts and clinical applications. Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1866:2, pages 158849.
Crossref
Kaja Blagotinšek Cokan, Žiga Urlep, Gregor Lorbek, Madlen Matz-Soja, Cene Skubic, Martina Perše, Jera Jeruc, Peter Juvan, Tadeja Režen & Damjana Rozman. (2020) Chronic Disruption of the Late Cholesterol Synthesis Leads to Female-Prevalent Liver Cancer. Cancers 12:11, pages 3302.
Crossref
Mingcong Li, Rui Jin, Yinliang Qi, Hong Zhou, Tingting Zhu, Li Liu, Yanan Gu, Kang Luan, Xin Luo & Shengquan Zhang. (2020) Cholesterol partially rescues the inhibition effect of pravastatin on keratinocytes proliferation by regulating cell cycle relative proteins through AKT and ERK pathway . Dermatologic Therapy 33:6.
Crossref
Santiago Cerrizuela, Guillermo A. Vega‐Lopez & Manuel J. Aybar. (2020) The role of teratogens in neural crest development. Birth Defects Research 112:8, pages 584-632.
Crossref
Maia Kinnebrew, Ellen J Iverson, Bhaven B Patel, Ganesh V Pusapati, Jennifer H Kong, Kristen A Johnson, Giovanni Luchetti, Kaitlyn M Eckert, Jeffrey G McDonald, Douglas F Covey, Christian Siebold, Arun Radhakrishnan & Rajat Rohatgi. (2019) Cholesterol accessibility at the ciliary membrane controls hedgehog signaling. eLife 8.
Crossref
Fei Han, Qishan Chen, Jia Su, Ancheng Zheng, Kai Chen, Shasha Sun, Hong Wu, Liujun Jiang, Xiaolei Xu, Mei Yang, Feng Yang, Jianhua Zhu & Li Zhang. (2019) MicroRNA-124 regulates cardiomyocyte apoptosis and myocardial infarction through targeting Dhcr24. Journal of Molecular and Cellular Cardiology 132, pages 178-188.
Crossref
Ke-yong Tian, Hui-Min Chang, Jie Wang, Mei-hao Qi, Wei-long Wang, Yang Qiu, Kun Liang, Fu-quan Chen, Ding-jun Zha & Jian-hua Qiu. (2019) Inhibition of DHCR24 increases the cisplatin-induced damage to cochlear hair cells in vitro. Neuroscience Letters 706, pages 99-104.
Crossref
Ursa Kovac, Elizabeth A. Jasper, Caitlin J. Smith, Rebecca J. Baer, Bruce Bedell, Brittney M. Donovan, Nancy Weathers, Ursula Prosenc Zmrzljak, Laura L. Jelliffe-Pawlowski, Damjana Rozman & Kelli K. Ryckman. (2019) The Association of Polymorphisms in Circadian Clock and Lipid Metabolism Genes With 2nd Trimester Lipid Levels and Preterm Birth. Frontiers in Genetics 10.
Crossref
Rui Jin, Xin Luo, Kang Luan, Li Liu, Liang-Dan Sun, Sen Yang, Sheng-Quan Zhang & Xue-Jun Zhang. (2017) Disorder of the mevalonate pathway inhibits calcium-induced differentiation of keratinocytes. Molecular Medicine Reports 16:4, pages 4811-4816.
Crossref
Tadeja Re?en, Iza Ogris, Marko Sever, Franci Merzel, Simona Golic Grdadolnik & Damjana Rozman. (2017) Evaluation of Selected CYP51A1 Polymorphisms in View of Interactions with Substrate and Redox Partner. Frontiers in Pharmacology 8.
Crossref
Paul R. Brezina. (2017) Genetic Screening and Early Recurrent Pregnancy Loss. Current Obstetrics and Gynecology Reports 6:2, pages 163-168.
Crossref
Žiga Urlep, Gregor Lorbek, Martina Perše, Jera Jeruc, Peter Juvan, Madlen Matz-Soja, Rolf Gebhardt, Ingemar Björkhem, Jason A. Hall, Richard Bonneau, Dan R. Littman & Damjana Rozman. (2017) Disrupting Hepatocyte Cyp51 from Cholesterol Synthesis Leads to Progressive Liver Injury in the Developing Mouse and Decreases RORC Signalling. Scientific Reports 7:1.
Crossref
Terenzio Ferrante, Alessandro Barge, Silvia Taramino, Simonetta Oliaro-Bosso & Gianni Balliano. (2016) 4-Methylzymosterone and Other Intermediates of Sterol Biosynthesis from Yeast Mutants Engineered in the ERG27 Gene Encoding 3-Ketosteroid Reductase . Lipids 51:9, pages 1103-1113.
Crossref
Jure Ačimovič, Sandeep Goyal, Rok Košir, Marko Goličnik, Martina Perše, Ales Belič, Žiga Urlep, F. Peter Guengerich & Damjana Rozman. (2016) Cytochrome P450 metabolism of the post-lanosterol intermediates explains enigmas of cholesterol synthesis. Scientific Reports 6:1.
Crossref
L.B. Richards, M. Li, B.C.A.M. van Esch, J. Garssen & G. Folkerts. (2016) The effects of short-chain fatty acids on the cardiovascular system. PharmaNutrition 4:2, pages 68-111.
Crossref
Zeljka Korade, Hye-Young H. Kim, Keri A. Tallman, Wei Liu, Katalin Koczok, Istvan Balogh, Libin Xu, Karoly Mirnics & Ned A. Porter. (2016) The Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human Fibroblasts. Journal of Medicinal Chemistry 59:3, pages 1102-1115.
Crossref
Xiaoping Quan, Xiuqiang Chen, Deliang Sun, Bo Xu, Linlin Zhao, Xiaoqian Shi, Hongsheng Liu, Bing Gao & Xiuli Lu. (2016) The mechanism of the effect of U18666a on blocking the activity of 3?-hydroxysterol ?-24-reductase (DHCR24): molecular dynamics simulation study and free energy analysis. Journal of Molecular Modeling 22:2.
Crossref
Gregor Lorbek, Martina Perše, Jera Jeruc, Peter Juvan, Francisco M. Gutierrez-Mariscal, Monika Lewinska, Rolf Gebhardt, Rok Keber, Simon Horvat, Ingemar Björkhem & Damjana Rozman. (2015) Lessons from Hepatocyte-Specific Cyp51 Knockout Mice: Impaired Cholesterol Synthesis Leads to Oval Cell-Driven Liver Injury. Scientific Reports 5:1.
Crossref
Monika Lewinska, Peter Juvan, Martina Perse, Jera Jeruc, Spela Kos, Gregor Lorbek, Ziga Urlep, Rok Keber, Simon Horvat & Damjana Rozman. (2014) Hidden Disease Susceptibility and Sexual Dimorphism in the Heterozygous Knockout of Cyp51 from Cholesterol Synthesis. PLoS ONE 9:11, pages e112787.
Crossref
Ann Michelle Stanley Morrison, Jared V. Goldstone, David C. Lamb, Akira Kubota, Benjamin Lemaire & John J. Stegeman. (2014) Identification, modeling and ligand affinity of early deuterostome CYP51s, and functional characterization of recombinant zebrafish sterol 14?-demethylase. Biochimica et Biophysica Acta (BBA) - General Subjects 1840:6, pages 1825-1836.
Crossref
Jakob Kljun, Antony James ScottTea Lanišnik Rižner, Jennifer Keiser & Iztok Turel. (2014) Synthesis and Biological Evaluation of Organoruthenium Complexes with Azole Antifungal Agents. First Crystal Structure of a Tioconazole Metal Complex. Organometallics 33:7, pages 1594-1601.
Crossref
Matthaeus Stoehr, Christian Mozet, Andreas Boehm, Achim Aigner, Andreas Dietz & Gunnar Wichmann. (2014) Simvastatin suppresses head and neck squamous cell carcinoma ex vivo and enhances the cytostatic effects of chemotherapeutics. Cancer Chemotherapy and Pharmacology 73:4, pages 827-837.
Crossref
Winnie Luu, Eser J. Zerenturk, Ika Kristiana, Martin P. Bucknall, Laura J. Sharpe & Andrew J. Brown. (2014) Signaling regulates activity of DHCR24, the final enzyme in cholesterol synthesis. Journal of Lipid Research 55:3, pages 410-420.
Crossref
Montserrat Cofan Pujol. (2014) Mecanismos básicos. Absorción y excreción de colesterol y otros esteroles. Clínica e Investigación en Arteriosclerosis 26:1, pages 41-47.
Crossref
Monika Lewińska, Urska Zelenko, Franci Merzel, Simona Golic Grdadolnik, Jeffrey C. Murray & Damjana Rozman. (2013) Polymorphisms of CYP51A1 from Cholesterol Synthesis: Associations with Birth Weight and Maternal Lipid Levels and Impact on CYP51 Protein Structure. PLoS ONE 8:12, pages e82554.
Crossref
Satya P. Panda, Anyonya R. Guntur, Srikanth R. Polusani, Roberto J. Fajardo, Peter T. Gakunga, Linda J. Roman & Bettie Sue Masters. (2013) Conditional Deletion of Cytochrome P450 Reductase in Osteoprogenitor Cells Affects Long Bone and Skull Development in Mice Recapitulating Antley-Bixler Syndrome: Role of a Redox Enzyme in Development. PLoS ONE 8:9, pages e75638.
Crossref
Adviti Naik, Rok Košir & Damjana Rozman. (2013) Genomic aspects of NAFLD pathogenesis. Genomics 102:2, pages 84-95.
Crossref
Jure Ačimovič & Damjana Rozman. (2013) Steroidal Triterpenes of Cholesterol Synthesis. Molecules 18:4, pages 4002-4017.
Crossref
Mariëtte Y.M. van der Wulp, Henkjan J. Verkade & Albert K. Groen. (2013) Regulation of cholesterol homeostasis. Molecular and Cellular Endocrinology 368:1-2, pages 1-16.
Crossref
Stacey D. Gilk, Diane C. Cockrell, Courtney Luterbach, Bryan Hansen, Leigh A. Knodler, J. Antonio Ibarra, Olivia Steele-Mortimer & Robert A. Heinzen. (2013) Bacterial Colonization of Host Cells in the Absence of Cholesterol. PLoS Pathogens 9:1, pages e1003107.
Crossref
Gail E. Herman & Lisa Kratz. (2012) Disorders of sterol synthesis: Beyond Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 160C:4, pages 301-321.
Crossref
Aimée Zuniga, Rolf Zeller & Simone Probst. (2012) The molecular basis of human congenital limb malformations. Wiley Interdisciplinary Reviews: Developmental Biology 1:6, pages 803-822.
Crossref
Erminio Giavini & Elena Menegola. (2012) Biomarkers of teratogenesis: Suggestions from animal studies. Reproductive Toxicology 34:2, pages 180-185.
Crossref
Gregor Lorbek, Monika Lewinska & Damjana Rozman. (2012) Cytochrome P450s in the synthesis of cholesterol and bile acids - from mouse models to human diseases. FEBS Journal 279:9, pages 1516-1533.
Crossref
Katja Kristan & Tea Lani?nik Ri?ner. (2012) Steroid-transforming enzymes in fungi. The Journal of Steroid Biochemistry and Molecular Biology 129:1-2, pages 79-91.
Crossref
Daniel Wüstner, Frederik W. Lund & Lukasz M. Solanko. 2013. Fluorescent Methods to Study Biological Membranes. Fluorescent Methods to Study Biological Membranes 185 213 .
Mateja Hafner, Peter Juvan, Tadeja Rezen, Katalin Monostory, Jean-Marc Pascussi & Damjana Rozman. (2011) The human primary hepatocyte transcriptome reveals novel insights into atorvastatin and rosuvastatin action. Pharmacogenetics and Genomics 21:11, pages 741-750.
Crossref
Rok Keber, Helena Motaln, Kay D. Wagner, Nataša Debeljak, Minoo Rassoulzadegan, Jure Ačimovič, Damjana Rozman & Simon Horvat. (2011) Mouse Knockout of the Cholesterogenic Cytochrome P450 Lanosterol 14α-Demethylase (Cyp51) Resembles Antley-Bixler Syndrome. Journal of Biological Chemistry 286:33, pages 29086-29097.
Crossref
Klementina Fon Tacer & Damjana Rozman. (2011) Nonalcoholic Fatty Liver Disease: Focus on Lipoprotein and Lipid Deregulation. Journal of Lipids 2011, pages 1-14.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.