Publications

• A comprehensive machine-readable view of the mammalian cholesterol biosynthesis pathway.

  Mazein A., Watterson S., Hsieh W.Y., Griffiths W.J., Ghazal P.

  Cholesterol biosynthesis serves as a central metabolic hub for numerous biological processes in health and disease. A detailed, integrative single-view description of how the cholesterol pathway is structured and how it interacts with other pathway systems is lacking in the existing literature. He ... >> More

  Cholesterol biosynthesis serves as a central metabolic hub for numerous biological processes in health and disease. A detailed, integrative single-view description of how the cholesterol pathway is structured and how it interacts with other pathway systems is lacking in the existing literature. Here we provide a systematic review of the existing literature and present a detailed pathway diagram that describes the cholesterol biosynthesis pathway (the mevalonate, the Kandutch-Russell and the Bloch pathway) and shunt pathway that leads to 24(S),25-epoxycholesterol synthesis. The diagram has been produced using the Systems Biology Graphical Notation (SBGN) and is available in the SBGN-ML format, a human readable and machine semantically parsable open community file format. << Less

  Biochem. Pharmacol. 86:56-66(2013) [PubMed] [EuropePMC]

  This publication is cited by 30 other entries.

• Interactions of the ergosterol biosynthetic pathway with other lipid pathways.

  Veen M., Lang C.

  Micro-organisms have recently received broad attention as sources of novel lipids. An increased understanding of the effects of fats and oils and their composition on the metabolism and on health has shifted the focus towards the use of lipids for disease treatment and prevention and for the promo ... >> More

  Micro-organisms have recently received broad attention as sources of novel lipids. An increased understanding of the effects of fats and oils and their composition on the metabolism and on health has shifted the focus towards the use of lipids for disease treatment and prevention and for the promotion of good health. A large range of lipidic products produced by yeast is known today. Ergosterol and its metabolic precursors are major lipidic components of industrial and commercial interest. Having in mind the aim to increase the productivity of ergosterol and its precursor metabolites, both the knowledge of regulatory mechanisms of the biosynthetic pathway and its interactions with other lipid pathways like those of sphingolipids, phospholipids and fatty acids are crucial. << Less

  Biochem Soc Trans 33:1178-1181(2005) [PubMed] [EuropePMC]

  This publication is cited by 9 other entries.

• Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

  He M., Kratz L.E., Michel J.J., Vallejo A.N., Ferris L., Kelley R.I., Hoover J.J., Jukic D., Gibson K.M., Wolfe L.A., Ramachandran D., Zwick M.E., Vockley J.

  Defects in cholesterol synthesis result in a wide variety of symptoms, from neonatal lethality to the relatively mild dysmorphic features and developmental delay found in individuals with Smith-Lemli-Opitz syndrome. We report here the identification of mutations in sterol-C4-methyl oxidase–like ge ... >> More

  Defects in cholesterol synthesis result in a wide variety of symptoms, from neonatal lethality to the relatively mild dysmorphic features and developmental delay found in individuals with Smith-Lemli-Opitz syndrome. We report here the identification of mutations in sterol-C4-methyl oxidase–like gene (SC4MOL) as the cause of an autosomal recessive syndrome in a human patient with psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. This gene encodes a sterol-C4-methyl oxidase (SMO), which catalyzes demethylation of C4-methylsterols in the cholesterol synthesis pathway. C4-Methylsterols are meiosis-activating sterols (MASs). They exist at high concentrations in the testis and ovary and play roles in meiosis activation. In this study, we found that an accumulation of MASs in the patient led to cell overproliferation in both skin and blood. SMO deficiency also substantially altered immunocyte phenotype and in vitro function. MASs serve as ligands for liver X receptors α and β(LXRα and LXRβ), which are important in regulating not only lipid transport in the epidermis, but also innate and adaptive immunity. Deficiency of SMO represents a biochemical defect in the cholesterol synthesis pathway, the clinical spectrum of which remains to be defined. << Less

  J. Clin. Invest. 121:976-984(2011) [PubMed] [EuropePMC]

  This publication is cited by 7 other entries.