메뉴 건너뛰기




Volumn 54, Issue 7, 2006, Pages 2306-2313

Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; ISOPRENOID; LIPOPROTEIN; MESSENGER RNA; MEVALONATE KINASE; SIMVASTATIN; SQUALENE SYNTHASE INHIBITOR; ZARAGOZIC ACID A;

EID: 33745880106     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.21960     Document Type: Article
Times cited : (33)

References (30)
  • 1
    • 0028026953 scopus 로고
    • Hyperimmunoglobulinemia D and periodic fever syndrome: The clinical spectrum in a series of 50 patients
    • Drenth JP, Haagsma CJ, van der Meer JW, and the International Hyper-IgD Study Group. Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. Medicine (Baltimore) 1994;73:133-44.
    • (1994) Medicine (Baltimore) , vol.73 , pp. 133-144
    • Drenth, J.P.1    Haagsma, C.J.2    Van Der Meer, J.W.3
  • 4
    • 0035063676 scopus 로고    scopus 로고
    • Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
    • Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, et al. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Eur J Hum Genet 2001;9:253-9.
    • (2001) Eur J Hum Genet , vol.9 , pp. 253-259
    • Houten, S.M.1    Koster, J.2    Romeijn, G.J.3    Frenkel, J.4    Di Rocco, M.5    Caruso, U.6
  • 6
    • 0032987982 scopus 로고    scopus 로고
    • Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
    • Houten SM, Kuis W, Duran M, de Koning TJ, Royen-Kerkhof A, Romeijn GJ, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999;22:175-7.
    • (1999) Nat Genet , vol.22 , pp. 175-177
    • Houten, S.M.1    Kuis, W.2    Duran, M.3    De Koning, T.J.4    Royen-Kerkhof, A.5    Romeijn, G.J.6
  • 7
    • 0033039501 scopus 로고    scopus 로고
    • Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome
    • Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, et al, and the International Hyper-IgD Study Group. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet 1999;22:178-81.
    • (1999) Nat Genet , vol.22 , pp. 178-181
    • Drenth, J.P.1    Cuisset, L.2    Grateau, G.3    Vasseur, C.4    Van De Velde-Visser, S.D.5    De Jong, J.G.6
  • 8
    • 0025120211 scopus 로고
    • Regulation of the mevalonate pathway
    • Goldstein JL, Brown MS. Regulation of the mevalonate pathway. Nature 1990;343:425-30.
    • (1990) Nature , vol.343 , pp. 425-430
    • Goldstein, J.L.1    Brown, M.S.2
  • 9
    • 0030941803 scopus 로고    scopus 로고
    • The SREBP pathway: Regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor
    • Brown MS, Goldstein JL. The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor. Cell 1997;89:331-40.
    • (1997) Cell , vol.89 , pp. 331-340
    • Brown, M.S.1    Goldstein, J.L.2
  • 10
    • 0036251153 scopus 로고    scopus 로고
    • SREBPs: Activators of the complete program of cholesterol and fatty acid synthesis in the liver
    • Horton JD, Goldstein JL, Brown MS. SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver. J Clin Invest 2002;109:1125-31.
    • (2002) J Clin Invest , vol.109 , pp. 1125-1131
    • Horton, J.D.1    Goldstein, J.L.2    Brown, M.S.3
  • 12
    • 1842869873 scopus 로고    scopus 로고
    • Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome
    • Houten SM, Frenkel J, Rijkers GT, Wanders RJ, Kuis W, Waterham HR. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum Mol Genet 2002;11:3115-24.
    • (2002) Hum Mol Genet , vol.11 , pp. 3115-3124
    • Houten, S.M.1    Frenkel, J.2    Rijkers, G.T.3    Wanders, R.J.4    Kuis, W.5    Waterham, H.R.6
  • 13
    • 0037458669 scopus 로고    scopus 로고
    • Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients
    • Houten SM, Schneiders MS, Wanders RJ, Waterham HR. Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients. J Biol Chem 2003;278:5736-43.
    • (2003) J Biol Chem , vol.278 , pp. 5736-5743
    • Houten, S.M.1    Schneiders, M.S.2    Wanders, R.J.3    Waterham, H.R.4
  • 14
    • 0036822810 scopus 로고    scopus 로고
    • Lack of isoprenoid products raises ex vivo interleukin-1β secretion in hyperimmunoglobulinemia D and periodic fever syndrome
    • Frenkel J, Rijkers GT, Mandey SH, Buurman SW, Houten SM, Wanders RJ, et al. Lack of isoprenoid products raises ex vivo interleukin-1β secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2002;46:2794-803.
    • (2002) Arthritis Rheum , vol.46 , pp. 2794-2803
    • Frenkel, J.1    Rijkers, G.T.2    Mandey, S.H.3    Buurman, S.W.4    Houten, S.M.5    Wanders, R.J.6
  • 15
    • 0026736845 scopus 로고
    • Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria
    • Hoffmann GF, Brendel SU, Scharfschwerdt SR, Shin YS, Speidel IM, Gibson KM. Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. J Inherit Metab Dis 1992;15:738-46.
    • (1992) J Inherit Metab Dis , vol.15 , pp. 738-746
    • Hoffmann, G.F.1    Brendel, S.U.2    Scharfschwerdt, S.R.3    Shin, Y.S.4    Speidel, I.M.5    Gibson, K.M.6
  • 16
    • 0036158980 scopus 로고    scopus 로고
    • Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis
    • Hogenboom S, Romeijn GJ, Houten SM, Baes M, Wanders RJ, Waterham HR. Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis. J Lipid Res 2002;43:90-8.
    • (2002) J Lipid Res , vol.43 , pp. 90-98
    • Hogenboom, S.1    Romeijn, G.J.2    Houten, S.M.3    Baes, M.4    Wanders, R.J.5    Waterham, H.R.6
  • 17
    • 0037435395 scopus 로고    scopus 로고
    • Assumption-free analysis of quantitative real-time polymerase chain reaction (PCR) data
    • Ramakers C, Ruijter JM, Deprez RH, Moorman AF. Assumption-free analysis of quantitative real-time polymerase chain reaction (PCR) data. Neurosci Lett 2003;339:62-6.
    • (2003) Neurosci Lett , vol.339 , pp. 62-66
    • Ramakers, C.1    Ruijter, J.M.2    Deprez, R.H.3    Moorman, A.F.4
  • 18
    • 0038724543 scopus 로고    scopus 로고
    • Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation
    • Houten SM, Frenkel J, Waterham HR. Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation. Cell Mol Life Sci 2003;60:1118-34.
    • (2003) Cell Mol Life Sci , vol.60 , pp. 1118-1134
    • Houten, S.M.1    Frenkel, J.2    Waterham, H.R.3
  • 20
  • 21
    • 0032127143 scopus 로고    scopus 로고
    • Massive production of farnesol-derived dicarboxylic acids in mice treated with the squalene synthase inhibitor zaragozic acid a
    • Vaidya S, Bostedor R, Kurtz MM, Bergstrom JD, Bansal VS. Massive production of farnesol-derived dicarboxylic acids in mice treated with the squalene synthase inhibitor zaragozic acid A. Arch Biochem Biophys 1998;355:84-92.
    • (1998) Arch Biochem Biophys , vol.355 , pp. 84-92
    • Vaidya, S.1    Bostedor, R.2    Kurtz, M.M.3    Bergstrom, J.D.4    Bansal, V.S.5
  • 22
    • 0030903764 scopus 로고    scopus 로고
    • Farnesol-derived dicarboxylic acids in the urine of animals treated with zaragozic acid a or with farnesol
    • Bostedor RG, Karkas JD, Arison BH, Bansal VS, Vaidya S, Germershausen JI, et al. Farnesol-derived dicarboxylic acids in the urine of animals treated with zaragozic acid A or with farnesol. J Biol Chem 1997;272:9197-203.
    • (1997) J Biol Chem , vol.272 , pp. 9197-9203
    • Bostedor, R.G.1    Karkas, J.D.2    Arison, B.H.3    Bansal, V.S.4    Vaidya, S.5    Germershausen, J.I.6
  • 23
    • 0030592525 scopus 로고    scopus 로고
    • Squalene synthase inhibition alters metabolism of nonsterols in rat liver
    • Keller RK. Squalene synthase inhibition alters metabolism of nonsterols in rat liver. Biochim Biophys Acta 1996;1303:169-79.
    • (1996) Biochim Biophys Acta , vol.1303 , pp. 169-179
    • Keller, R.K.1
  • 25
    • 0026635536 scopus 로고
    • Squalestatin 1, a potent inhibitor of squalene synthase, which lowers serum cholesterol in vivo
    • Baxter A, Fitzgerald BJ, Hutson JL, McCarthy AD, Motteram JM, Ross BC, et al. Squalestatin 1, a potent inhibitor of squalene synthase, which lowers serum cholesterol in vivo. J Biol Chem 1992;267:11705-8.
    • (1992) J Biol Chem , vol.267 , pp. 11705-11708
    • Baxter, A.1    Fitzgerald, B.J.2    Hutson, J.L.3    McCarthy, A.D.4    Motteram, J.M.5    Ross, B.C.6
  • 26
    • 0032437512 scopus 로고    scopus 로고
    • Clinical pharmacokinetics and pharmacodynamics of a new squalene synthase inhibitor, BMS-188494, in healthy volunteers
    • Sharma A, Slugg PH, Hammett JL, Jusko WJ. Clinical pharmacokinetics and pharmacodynamics of a new squalene synthase inhibitor, BMS-188494, in healthy volunteers. J Clin Pharmacol 1998;38:1116-21.
    • (1998) J Clin Pharmacol , vol.38 , pp. 1116-1121
    • Sharma, A.1    Slugg, P.H.2    Hammett, J.L.3    Jusko, W.J.4
  • 27
    • 0031758830 scopus 로고    scopus 로고
    • Estimation of oral bioavailability of a long half-life drug in healthy subjects
    • Sharma A, Slugg PH, Hammett JL, Jusko WJ. Estimation of oral bioavailability of a long half-life drug in healthy subjects. Pharm Res 1998;15:1782-6.
    • (1998) Pharm Res , vol.15 , pp. 1782-1786
    • Sharma, A.1    Slugg, P.H.2    Hammett, J.L.3    Jusko, W.J.4
  • 28
    • 0034884697 scopus 로고    scopus 로고
    • Inherited disorders of cholesterol biosynthesis
    • Haas D, Kelley RI, Hoffmann GF. Inherited disorders of cholesterol biosynthesis. Neuropediatrics 2001;32:113-22.
    • (2001) Neuropediatrics , vol.32 , pp. 113-122
    • Haas, D.1    Kelley, R.I.2    Hoffmann, G.F.3
  • 29
    • 0141453408 scopus 로고    scopus 로고
    • Favorable preliminary experience with etanercept in 2 patients with the hyperimmunoglobulinemia D and periodic fever syndrome
    • Takada K, Aksentijevich I, Mahadevan V, Dean JA, Kelley RI, Kastner DL. Favorable preliminary experience with etanercept in 2 patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2003;48:2645-51.
    • (2003) Arthritis Rheum , vol.48 , pp. 2645-2651
    • Takada, K.1    Aksentijevich, I.2    Mahadevan, V.3    Dean, J.A.4    Kelley, R.I.5    Kastner, D.L.6
  • 30
    • 0036444250 scopus 로고    scopus 로고
    • Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept
    • Arkwright PD, McDermott MF, Houten SM, Frenkel J, Waterham HR, Aganna E, et al. Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept. Clin Exp Immunol 2002;130:484-8.
    • (2002) Clin Exp Immunol , vol.130 , pp. 484-488
    • Arkwright, P.D.1    McDermott, M.F.2    Houten, S.M.3    Frenkel, J.4    Waterham, H.R.5    Aganna, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.