Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation
暂无分享,去创建一个
[1] N. Philip,et al. Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin? , 2001, Journal of Inherited Metabolic Disease.
[2] E. Mayatepek,et al. Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes , 1997, Journal of Inherited Metabolic Disease.
[3] Á. Haraldsson,et al. Immunological studies in the hyper-immunoglobulin D syndrome , 1992, Journal of Clinical Immunology.
[4] Sebastian Maurer-Stroh,et al. Protein prenyltransferases , 2003, Genome Biology.
[5] H. Waterham,et al. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands , 2003, European Journal of Human Genetics.
[6] H. Waterham,et al. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. , 2002, Human molecular genetics.
[7] H. Waterham,et al. Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. , 2002, Arthritis and rheumatism.
[8] G. Weitz-Schmidt,et al. Statins as anti-inflammatory agents. , 2002, Trends in pharmacological sciences.
[9] J. Auer,et al. Clinical significance of pleiotropic effects of statins: lipid reduction and beyond. , 2002, Current medicinal chemistry.
[10] A. Thatayatikom,et al. Mutation of a New Gene Encoding a Putative Pyrin-Like Protein Causes Familial Cold Autoinflammatory Syndrome and Muckle-Wells Syndrome , 2002, Pediatrics.
[11] F. Martinon,et al. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. , 2002, Molecular cell.
[12] J. Liao. Isoprenoids as mediators of the biological effects of statins. , 2002, The Journal of clinical investigation.
[13] A. Fischer,et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. , 2002, American journal of human genetics.
[14] M. Schaller,et al. Fire and ICE: the role of pyrin domain-containing proteins in inflammation and apoptosis. , 2002, Clinical and experimental rheumatology.
[15] Rivka L. Glaser,et al. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. , 2002, American journal of medical genetics.
[16] S. Srinivasula,et al. The PYRIN-CARD Protein ASC Is an Activating Adaptor for Caspase-1* , 2002, The Journal of Biological Chemistry.
[17] D. Scott,et al. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. , 2002, American journal of human genetics.
[18] B. Guillois,et al. An intestinal obstruction in an eight‐month‐old child suffering from mevalonic aciduria , 2002, Acta paediatrica.
[19] Joseph L Goldstein,et al. SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver. , 2002, The Journal of clinical investigation.
[20] Dong Yang,et al. Structure of the Methanococcus jannaschii Mevalonate Kinase, a Member of the GHMP Kinase Superfamily* , 2002, The Journal of Biological Chemistry.
[21] U. Laufs,et al. Pleiotropic effects of HMG-CoA reductase inhibitors , 2002, Basic Research in Cardiology.
[22] J. Meer,et al. Hereditary periodic fever - Reply , 2002 .
[23] A. Ballabio,et al. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. , 2002, American journal of human genetics.
[24] G. Herman,et al. Inborn errors of sterol biosynthesis. , 2003, Annual review of genomics and human genetics.
[25] D. Kastner,et al. A fever gene comes in from the cold , 2001, Nature Genetics.
[26] L. Cuisset,et al. Molecular Analysis of the Mevalonate Kinase Gene in a Cohort of Patients with the Hyper-IgD and Periodic Fever Syndrome: Its Application as a Diagnostic Tool , 2001, Annals of Internal Medicine.
[27] V. Dixit,et al. The PYRIN domain: A member of the death domain‐fold superfamily , 2001, Protein science : a publication of the Protein Society.
[28] J. Meer,et al. Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial. , 2001, The Journal of pharmacology and experimental therapeutics.
[29] H. Sone,et al. Sterol regulatory element-binding proteins induce an entire pathway of cholesterol synthesis. , 2001, Biochemical and biophysical research communications.
[30] E. Mayatepek,et al. Increased urinary leukotriene E4 during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome , 2001, Archives of disease in childhood.
[31] N. Ridgway,et al. Uncoupling Farnesol-induced Apoptosis from Its Inhibition of Phosphatidylcholine Synthesis* , 2001, The Journal of Biological Chemistry.
[32] J. Pereira-Leal,et al. Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease , 2001, FEBS letters.
[33] R. Kelley,et al. Inherited disorders of cholesterol biosynthesis. , 2001, Neuropediatrics.
[34] H. Waterham,et al. Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. , 2001, Rheumatology.
[35] Y. Cho,et al. Characterization of mevalonate kinase V377I, a mutant implicated in defective isoprenoid biosynthesis and HIDS/periodic fever syndrome. , 2001, Biochimica et biophysica acta.
[36] H. Miziorko,et al. Investigation of Invariant Serine/Threonine Residues in Mevalonate Kinase , 2001, The Journal of Biological Chemistry.
[37] J. Meer,et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome , 2001, European Journal of Human Genetics.
[38] H. Waterham,et al. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome , 2001, European Journal of Human Genetics.
[39] F. Martinon,et al. The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation , 2001, Current Biology.
[40] J C Reed,et al. PAAD - a new protein domain associated with apoptosis, cancer and autoimmune diseases. , 2001, Trends in biochemical sciences.
[41] J. van der Meer,et al. Hyper-Immunoglobulin A in the Hyperimmunoglobulinemia D Syndrome , 2001, Clinical Diagnostic Laboratory Immunology.
[42] P. M. Davis,et al. Stimulation of inflammatory responses in vitro and in vivo by lipophilic HMG-CoA reductase inhibitors. , 2001, International immunopharmacology.
[43] P. Beachy,et al. Cholesterol modification of proteins. , 2000, Biochimica et biophysica acta.
[44] D Tabor,et al. Regulation of gene expression by SREBP and SCAP. , 2000, Biochimica et biophysica acta.
[45] J. Auwerx,et al. Sterols and gene expression: control of affluence. , 2000, Biochimica et biophysica acta.
[46] T. Tansey,et al. Structure and regulation of mammalian squalene synthase. , 2000, Biochimica et biophysica acta.
[47] R. Wanders,et al. Biochemical and genetic aspects of mevalonate kinase and its deficiency. , 2000, Biochimica et biophysica acta.
[48] J. Bertin,et al. The PYRIN domain: a novel motif found in apoptosis and inflammation proteins , 2000, Cell Death and Differentiation.
[49] D. Harats,et al. The Ubiquitin-Proteasome Pathway Mediates the Regulated Degradation of Mammalian 3-Hydroxy-3-methylglutaryl-coenzyme A Reductase* , 2000, The Journal of Biological Chemistry.
[50] T. Osborne,et al. Sterol Regulatory Element-binding Proteins (SREBPs): Key Regulators of Nutritional Homeostasis and Insulin Action* , 2000, The Journal of Biological Chemistry.
[51] R. Pardi,et al. Simvastatin Modulates Cytokine-Mediated Endothelial Cell Adhesion Molecule Induction: Involvement of an Inhibitory G Protein1 , 2000, The Journal of Immunology.
[52] D. Kastner,et al. TNFRSF1A mutations and autoinflammatory syndromes. , 2000, Current opinion in immunology.
[53] A. Munnich,et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency , 2000, The Lancet.
[54] H. Waterham,et al. Mevalonate kinase deficiency and Dutch type periodic fever. , 2000, Clinical and experimental rheumatology.
[55] A. Munnich,et al. A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. , 2000, Human molecular genetics.
[56] G. Prendergast,et al. Farnesyltransferase inhibitors: antineoplastic mechanism and clinical prospects. , 2000, Current opinion in cell biology.
[57] A. Vladutiu. Immunoglobulin D: Properties, Measurement, and Clinical Relevance , 2000, Clinical Diagnostic Laboratory Immunology.
[58] K. Grzeschik,et al. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. , 2000, American journal of medical genetics.
[59] N. Braverman,et al. CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. , 2000, American journal of medical genetics.
[60] R. Kelley,et al. Inborn errors of cholesterol biosynthesis. , 2003 .
[61] J. Maul,et al. Farnesol is utilized for isoprenoid biosynthesis in plant cells via farnesyl pyrophosphate formed by successive monophosphorylation reactions. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[62] M. Brown,et al. A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[63] M. Rolland,et al. Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. , 1999, American journal of human genetics.
[64] H. Waterham,et al. Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. , 1999, Human molecular genetics.
[65] U. Laufs,et al. 3-Hydroxy-3-methylglutaryl-CoA Reductase Inhibitors Attenuate Vascular Smooth Muscle Proliferation by Preventing Rho GTPase-induced Down-regulation of p27 Kip1 * , 1999, The Journal of Biological Chemistry.
[66] H. Waterham,et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome , 1999, Nature Genetics.
[67] Joost P.H. Drenth,et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome , 1999, Nature Genetics.
[68] Ian Todd,et al. Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes , 1999, Cell.
[69] K. Gibson,et al. Characterization of phosphomevalonate kinase: chromosomal localization, regulation, and subcellular targeting. , 1999, Journal of lipid research.
[70] A. Moser,et al. Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. , 1999, American journal of medical genetics.
[71] J. Derry,et al. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com. , 1999, Nature genetics.
[72] A. Moser,et al. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. , 1999, Nature genetics.
[73] E. Lelièvre,et al. T(h)2 cytokine dependence of IgD production by normal human B cells. , 1999, International immunology.
[74] G. Favre,et al. Competitive Inhibition of Choline Phosphotransferase by Geranylgeraniol and Farnesol Inhibits Phosphatidylcholine Synthesis and Induces Apoptosis in Human Lung Adenocarcinoma A549 Cells* , 1998, The Journal of Biological Chemistry.
[75] K. Gibson,et al. Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. , 1998, American journal of medical genetics.
[76] E. Swiezewska,et al. Phosphorylation of farnesol in rat liver microsomes: properties of farnesol kinase and farnesyl phosphate kinase. , 1998, Archives of biochemistry and biophysics.
[77] K. Gibson,et al. Characterization of the mevalonate kinase 5'-untranslated region provides evidence for coordinate regulation of cholesterol biosynthesis. , 1998, Biochemical and biophysical research communications.
[78] R. Winter,et al. Clinical phenotype of desmosterolosis. , 1998, American journal of medical genetics.
[79] K. Gibson,et al. Post-translational regulation of mevalonate kinase by intermediates of the cholesterol and nonsterol isoprene biosynthetic pathways. , 1997, Journal of lipid research.
[80] B. Levy,et al. Polyisoprenyl phosphates in intracellular signalling , 1997, Nature.
[81] K. Gibson,et al. Identification of an Active Site Alanine in Mevalonate Kinase through Characterization of a Novel Mutation in Mevalonate Kinase Deficiency* , 1997, The Journal of Biological Chemistry.
[82] H. Miziorko,et al. Identification of Catalytic Residues in Human Mevalonate Kinase* , 1997, The Journal of Biological Chemistry.
[83] R. D. Simoni,et al. Farnesol as a regulator of HMG-CoA reductase degradation: characterization and role of farnesyl pyrophosphatase. , 1997, Archives of biochemistry and biophysics.
[84] F. Collins,et al. Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever , 1997, Cell.
[85] K. Feingold,et al. Endotoxin, tumor necrosis factor, and interleukin-1 decrease hepatic squalene synthase activity, protein, and mRNA levels in Syrian hamsters. , 1997, Journal of lipid research.
[86] S. Krisans,et al. Cloning and Subcellular Localization of Hamster and Rat Isopentenyl Diphosphate Dimethylallyl Diphosphate Isomerase , 1997, The Journal of Biological Chemistry.
[87] J. Goldstein,et al. The SREBP Pathway: Regulation of Cholesterol Metabolism by Proteolysis of a Membrane-Bound Transcription Factor , 1997, Cell.
[88] J. D. Karkas,et al. Farnesol-derived Dicarboxylic Acids in the Urine of Animals Treated with Zaragozic Acid A or with Farnesol* , 1997, The Journal of Biological Chemistry.
[89] K. Gibson,et al. Regulatory Adaptation of Isoprenoid Biosynthesis and the LDL Receptor Pathway in Fibroblasts from Patients with Mevalonate Kinase Deficiency , 1997, Pediatric Research.
[90] H. Miziorko,et al. Identification and Functional Characterization of an Active-site Lysine in Mevalonate Kinase* , 1997, The Journal of Biological Chemistry.
[91] N. Aboushadi,et al. Metabolism of farnesol: phosphorylation of farnesol by rat liver microsomal and peroxisomal fractions. , 1997, Biochemical and biophysical research communications.
[92] B. Buckley,et al. Statins do more than just lower cholesterol , 1996, The Lancet.
[93] M. Schwemmle,et al. Prenylation of an interferon‐γ‐induced GTP‐binding protein: the human guanylate binding protein, huGBP1 , 1996, Journal of leukocyte biology.
[94] G. Favre,et al. Farnesol and geranylgeraniol induce actin cytoskeleton disorganization and apoptosis in A549 lung adenocarcinoma cells. , 1996, Biochemical and biophysical research communications.
[95] M. Daha,et al. Immunoglobulin D enhances the release of tumour necrosis factor‐α, and interleukin‐1β as well as interleukin‐1 receptor antagonist from human mononuclear cells , 1996, Immunology.
[96] J. V. D. van der Meer,et al. Unstimulated peripheral blood mononuclear cells from patients with the hyper-IgD syndrome produce cytokines capable of potent induction of C-reactive protein and serum amyloid A in Hep3B cells. , 1996, Journal of immunology.
[97] G. Ness,et al. Farnesol is not the nonsterol regulator mediating degradation of HMG-CoA reductase in rat liver. , 1996, Archives of biochemistry and biophysics.
[98] R. D. Simoni,et al. Regulation of 3-Hydroxy-3-methylglutaryl-Coenzyme A Reductase Degradation by the Nonsterol Mevalonate Metabolite Farnesol in Vivo(*) , 1996, The Journal of Biological Chemistry.
[99] B. Kasiske,et al. Inhibition of the mevalonate pathway: benefits beyond cholesterol reduction? , 1996, The Lancet.
[100] J. Meer,et al. Interferon‐γ and urine neopterin in attacks of the hyperimmunoglobulinaemia D and periodic fever syndrome , 1995, European journal of clinical investigation.
[101] J. V. D. van der Meer,et al. Elevated serum level and altered glycosylation of alpha 1-acid glycoprotein in hyperimmunoglobulinemia D and periodic fever syndrome: evidence for persistent inflammation. , 1995, Clinical immunology and immunopathology.
[102] K. Feingold,et al. Discordant regulation of proteins of cholesterol metabolism during the acute phase response. , 1995, Journal of lipid research.
[103] D. Andres,et al. Farnesol is utilized for protein isoprenylation and the biosynthesis of cholesterol in mammalian cells. , 1995, Biochemical and biophysical research communications.
[104] C. Schalkwijk,et al. Cytokine activation during attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. , 1995, Blood.
[105] D. Andres,et al. Utilization of geranylgeraniol for protein isoprenylation in C6 glial cells. , 1994, Biochemical and biophysical research communications.
[106] P. Edwards,et al. Identification of farnesol as the non-sterol derivative of mevalonic acid required for the accelerated degradation of 3-hydroxy-3-methylglutaryl-coenzyme A reductase. , 1994, The Journal of biological chemistry.
[107] J. V. D. van der Meer,et al. Hyperimmunoglobulinemia D and Periodic Fever Syndrome: The Clinical Spectrum in a Series of 50 Patients , 1994, Medicine.
[108] R. D. Simoni,et al. Non-sterol compounds that regulate cholesterogenesis. Analogues of farnesyl pyrophosphate reduce 3-hydroxy-3-methylglutaryl-coenzyme A reductase levels. , 1994, The Journal of biological chemistry.
[109] P. Edwards,et al. Mevalonic acid-dependent degradation of 3-hydroxy-3-methylglutaryl-coenzyme A reductase in vivo and in vitro. , 1994, The Journal of biological chemistry.
[110] V. Bansal,et al. Characterization of two distinct allyl pyrophosphatase activities from rat liver microsomes. , 1994, Archives of biochemistry and biophysics.
[111] J. Taylor,et al. Effect of endotoxin on cholesterol biosynthesis and distribution in serum lipoproteins in Syrian hamsters. , 1993, Journal of lipid research.
[112] K. Gibson,et al. Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency. , 1993, Clinica chimica acta; international journal of clinical chemistry.
[113] H. Lehr,et al. Decreased Plasma Ubiquinone-10 Concentration in Patients with Mevalonate Kinase Deficiency , 1993, Pediatric Research.
[114] H. Bremer,et al. Enhanced urinary excretion of leukotriene E4 in patients with mevalonate kinase deficiency. , 1993, The Journal of pediatrics.
[115] G. Tint,et al. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome , 1993, The Lancet.
[116] R. Parker,et al. Tocotrienols regulate cholesterol production in mammalian cells by post-transcriptional suppression of 3-hydroxy-3-methylglutaryl-coenzyme A reductase. , 1993, The Journal of biological chemistry.
[117] J. D. Karkas,et al. Zaragozic acids: a family of fungal metabolites that are picomolar competitive inhibitors of squalene synthase. , 1993, Proceedings of the National Academy of Sciences of the United States of America.
[118] K. Gibson,et al. Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. , 1992, The Journal of biological chemistry.
[119] R. Evans,et al. Differential inhibitory effects of lovastatin on protein isoprenylation and sterol synthesis. , 1990, The Journal of biological chemistry.
[120] K. Gibson,et al. 3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium. , 1990, Journal of lipid research.
[121] R. Tanaka,et al. Purification and regulation of mevalonate kinase from rat liver. , 1990, The Journal of biological chemistry.
[122] M. Nakanishi,et al. Multivalent control of 3-hydroxy-3-methylglutaryl coenzyme A reductase. Mevalonate-derived product inhibits translation of mRNA and accelerates degradation of enzyme. , 1988, The Journal of biological chemistry.
[123] W. S. Simonet,et al. Near normal levels of isoprenoid lipids in severe mevalonic aciduria. , 1988, Biochemical and biophysical research communications.
[124] G. Hoffman. Mevalonic aciduria. , 1988, Hepatology.
[125] H. Schierbeek,et al. Mevalonic aciduria: an inborn error of cholesterol biosynthesis? , 1985, Clinica chimica acta; international journal of clinical chemistry.
[126] R. Furth,et al. HYPERIMMUNOGLOBULINAEMIA D AND PERIODIC FEVER: A NEW SYNDROME , 1984, The Lancet.
[127] C. Griscelli,et al. [Nosologic aspects of systemic forms of very-early-onset juvenile arthritis. Apropos of 17 cases]. , 1983, La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris.
[128] C. Griscelli,et al. [Nosologic aspects of systemic forms of very early onset juvenile arthritis. Apropos of 17 cases]. , 1983, Annales de pediatrie.
[129] P. Edwards,et al. Properties of purified rat hepatic 3-hydroxy-3-methylglutaryl coenzyme A reductase and regulation of enzyme activity. , 1980, The Journal of biological chemistry.
[130] P. Voûte,et al. A description of two brothers with permanently raised non-esterified aetiocholanolone blood level. , 1968, Acta endocrinologica.
[131] A. E. Russell,et al. Preputial gland tumor sterols. 3. A metabolic pathway from lanosterol to cholesterol. , 1960, The Journal of biological chemistry.