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Volumn 94, Issue 10, 2016, Pages 994-999

Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXY 2 PHOSPHONO 3 (3 PYRIDINYL)PROPANOIC ACID; FATOSTATIN; INTERLEUKIN 1BETA; ISOPRENOID; MEVALONATE KINASE; PROTEIN INHIBITOR; RAB PROTEIN; RAB14 PROTEIN; RAB1A PROTEIN; RAB7A PROTEIN; RAC PROTEIN; RAP PROTEIN; RHO FACTOR; STEROL REGULATORY ELEMENT BINDING PROTEIN; UNCLASSIFIED DRUG; PYRIDINE DERIVATIVE; STEROL REGULATORY ELEMENT BINDING PROTEIN 1; THIAZOLE DERIVATIVE;

EID: 84977160657     PISSN: 08189641     EISSN: 14401711     Source Type: Journal    
DOI: 10.1038/icb.2016.58     Document Type: Article
Times cited : (29)

References (30)
  • 1
    • 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, van Royen-Kerkhof A, Romeijn GJ, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999; 22: 175-177.
    • (1999) Nat Genet , vol.22 , pp. 175-177
    • Houten, S.M.1    Kuis, W.2    Duran, M.3    De Koning, T.J.4    Van Royen-Kerkhof, A.5    Romeijn, G.J.6
  • 2
    • 0033039501 scopus 로고    scopus 로고
    • Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group
    • Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 1999; 22: 178-181.
    • (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
  • 4
    • 84882261864 scopus 로고    scopus 로고
    • Mevalonate kinase deficiency, a metabolic autoinflammatory disease
    • van der Burgh R, Ter Haar NM, Boes ML, Frenkel J. Mevalonate kinase deficiency, a metabolic autoinflammatory disease. Clin Immunol 2012; 147: 197-206.
    • (2012) Clin Immunol , vol.147 , pp. 197-206
    • Van Der Burgh, R.1    Ter Haar, N.M.2    Boes, M.L.3    Frenkel, J.4
  • 5
    • 33746998472 scopus 로고    scopus 로고
    • Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency
    • Mandey SH, Schneiders MS, Koster J, Waterham HR. Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat 2006; 27: 796-802.
    • (2006) Hum Mutat , vol.27 , pp. 796-802
    • Mandey, S.H.1    Schneiders, M.S.2    Koster, J.3    Waterham, H.R.4
  • 6
    • 0030888606 scopus 로고    scopus 로고
    • Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiency
    • Hoffmann GF, Wiesmann UN, Brendel S, Keller RK, Gibson KM. Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiency. Pediatr Res 1997; 41: 541-546.
    • (1997) Pediatr Res , vol.41 , pp. 541-546
    • Hoffmann, G.F.1    Wiesmann, U.N.2    Brendel, S.3    Keller, R.K.4    Gibson, K.M.5
  • 7
    • 0036822810 scopus 로고    scopus 로고
    • Lack of isoprenoid products raises ex vivo interleukin-1beta 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-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2002; 46: 2794-2803.
    • (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
  • 8
    • 33745880106 scopus 로고    scopus 로고
    • Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency
    • Schneiders MS, Houten SM, Turkenburg M, Wanders RJ, Waterham HR. Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency. Arthritis Rheum 2006; 54: 2306-2313.
    • (2006) Arthritis Rheum , vol.54 , pp. 2306-2313
    • Schneiders, M.S.1    Houten, S.M.2    Turkenburg, M.3    Wanders, R.J.4    Waterham, H.R.5
  • 9
    • 52649173797 scopus 로고    scopus 로고
    • Natural isoprenoids are able to reduce inflammation in a mouse model of mevalonate kinase deficiency
    • Marcuzzi A, Pontillo A, De Leo L, Tommasini A, Decorti G, Not T, et al. Natural isoprenoids are able to reduce inflammation in a mouse model of mevalonate kinase deficiency. Pediatr Res 2008; 64: 177-182.
    • (2008) Pediatr Res , vol.64 , pp. 177-182
    • Marcuzzi, A.1    Pontillo, A.2    De Leo, L.3    Tommasini, A.4    Decorti, G.5    Not, T.6
  • 10
    • 0035146537 scopus 로고    scopus 로고
    • Structure-Activity relationships for inhibition of farnesyl diphosphate synthase in vitro and inhibition of bone resorption in vivo by nitrogen-containing bisphosphonates
    • Dunford JE, Thompson K, Coxon FP, Luckman SP, Hahn FM, Poulter CD, et al. Structure-Activity relationships for inhibition of farnesyl diphosphate synthase in vitro and inhibition of bone resorption in vivo by nitrogen-containing bisphosphonates. J Pharmacol Exp Ther 2001; 296: 235-242.
    • (2001) J Pharmacol Exp Ther , vol.296 , pp. 235-242
    • Dunford, J.E.1    Thompson, K.2    Coxon, F.P.3    Luckman, S.P.4    Hahn, F.M.5    Poulter, C.D.6
  • 11
    • 0033930168 scopus 로고    scopus 로고
    • Protein geranylgeranylation is required for osteoclast formation, function, and survival: Inhibition by bisphosphonates and GGTI-298
    • Coxon FP, Helfrich MH, van 't Hof RJ, Sebti SM, Ralston SH, Hamilton AD, et al. Protein geranylgeranylation is required for osteoclast formation, function, and survival: inhibition by bisphosphonates and GGTI-298. J Bone Miner Res 2000; 15: 1467-1476.
    • (2000) J Bone Miner Res , vol.15 , pp. 1467-1476
    • Coxon, F.P.1
  • 12
    • 0034515454 scopus 로고    scopus 로고
    • Hydroxymethylglutaryl-coenzyme A reductase inhibition stimulates caspase-1 activity and Th1-cytokine release in peripheral blood mononuclear cells
    • Montero MT, Hernandez O, Suarez Y, Matilla J, Ferruelo AJ, Martinez-Botas J, et al. Hydroxymethylglutaryl-coenzyme A reductase inhibition stimulates caspase-1 activity and Th1-cytokine release in peripheral blood mononuclear cells. Atherosclerosis 2000; 153: 303-313.
    • (2000) Atherosclerosis , vol.153 , pp. 303-313
    • Montero, M.T.1    Hernandez, O.2    Suarez, Y.3    Matilla, J.4    Ferruelo, A.J.5    Martinez-Botas, J.6
  • 13
    • 55749113358 scopus 로고    scopus 로고
    • HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation
    • Kuijk LM, Beekman JM, Koster J, Waterham HR, Frenkel J, Coffer PJ. HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood 2008; 112: 3563-3573.
    • (2008) Blood , vol.112 , pp. 3563-3573
    • Kuijk, L.M.1    Beekman, J.M.2    Koster, J.3    Waterham, H.R.4    Frenkel, J.5    Coffer, P.J.6
  • 14
    • 40349108709 scopus 로고    scopus 로고
    • Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1
    • Kuijk LM, Mandey SH, Schellens I, Waterham HR, Rijkers GT, Coffer PJ, et al. Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1. Mol Immunol 2008; 45: 2158-2165.
    • (2008) Mol Immunol , vol.45 , pp. 2158-2165
    • Kuijk, L.M.1    Mandey, S.H.2    Schellens, I.3    Waterham, H.R.4    Rijkers, G.T.5    Coffer, P.J.6
  • 15
    • 70849085205 scopus 로고    scopus 로고
    • Pharmacological inhibitors of the mevalonate pathway activate pro-IL-1 processing and IL-1 release by human monocytes
    • Massonnet B, Normand S, Moschitz R, Delwail A, Favot L, Garcia M, et al. Pharmacological inhibitors of the mevalonate pathway activate pro-IL-1 processing and IL-1 release by human monocytes. Eur Cytokine Netw 2009; 20: 112-120.
    • (2009) Eur Cytokine Netw , vol.20 , pp. 112-120
    • Massonnet, B.1    Normand, S.2    Moschitz, R.3    Delwail, A.4    Favot, L.5    Garcia, M.6
  • 16
    • 84859377311 scopus 로고    scopus 로고
    • Cutting edge: Nitrogen bisphosphonate-induced inflammation is dependent upon mast cells and IL-1
    • Norton JT, Hayashi T, Crain B, Cho JS, Miller LS, Corr M, et al. Cutting edge: nitrogen bisphosphonate-induced inflammation is dependent upon mast cells and IL-1. J Immunol 2012; 188: 2977-2980.
    • (2012) J Immunol , vol.188 , pp. 2977-2980
    • Norton, J.T.1    Hayashi, T.2    Crain, B.3    Cho, J.S.4    Miller, L.S.5    Corr, M.6
  • 17
    • 79960593396 scopus 로고    scopus 로고
    • Role of IL-1 receptor-Associated kinase-M (IRAK-M) in priming of immune and inflammatory responses by nitrogen bisphosphonates
    • Norton JT, Hayashi T, Crain B, Corr M, Carson DA. Role of IL-1 receptor-Associated kinase-M (IRAK-M) in priming of immune and inflammatory responses by nitrogen bisphosphonates. Proc Natl Acad Sci 2011; 108: 11163-11168.
    • (2011) Proc Natl Acad Sci , vol.108 , pp. 11163-11168
    • Norton, J.T.1    Hayashi, T.2    Crain, B.3    Corr, M.4    Carson, D.A.5
  • 18
    • 33750965780 scopus 로고    scopus 로고
    • A role for geranylgeranylation in interleukin-1beta secretion
    • Mandey SH, Kuijk LM, Frenkel J, Waterham HR. A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum 2006; 54: 3690-3695.
    • (2006) Arthritis Rheum , vol.54 , pp. 3690-3695
    • Mandey, S.H.1    Kuijk, L.M.2    Frenkel, J.3    Waterham, H.R.4
  • 19
    • 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: 3115-3124.
    • (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
  • 21
    • 84907487955 scopus 로고    scopus 로고
    • Unprenylated RhoA contributes to IL-1beta hypersecretion in mevalonate kinase deficiency model through stimulation of Rac1 activity
    • van der Burgh R, Pervolaraki K, Turkenburg M, Waterham HR, Frenkel J, Boes M. Unprenylated RhoA contributes to IL-1beta hypersecretion in mevalonate kinase deficiency model through stimulation of Rac1 activity. J Biol Chem 2014; 289: 27757-27765.
    • (2014) J Biol Chem , vol.289 , pp. 27757-27765
    • Van Der Burgh, R.1    Pervolaraki, K.2    Turkenburg, M.3    Waterham, H.R.4    Frenkel, J.5    Boes, M.6
  • 22
    • 84893823338 scopus 로고    scopus 로고
    • Regulation of autophagy by the Rab GTPase network
    • Ao X, Zou L, Wu Y. Regulation of autophagy by the Rab GTPase network. Cell Death Diff 2014; 21: 348-358.
    • (2014) Cell Death Diff , vol.21 , pp. 348-358
    • Ao, X.1    Zou, L.2    Wu, Y.3
  • 23
    • 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: 5736-5743.
    • (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
  • 24
    • 84961564487 scopus 로고    scopus 로고
    • A highly sensitive prenylation assay reveals in vivo effects of bisphosphonate drug on the Rab prenylome of macrophages outside the skeleton
    • Ali N, Jurczyluk J, Shay G, Tnimov Z, Alexandrov K, Munoz MA, et al. A highly sensitive prenylation assay reveals in vivo effects of bisphosphonate drug on the Rab prenylome of macrophages outside the skeleton. Small GTPases 2015; 6: 202-211.
    • (2015) Small GTPases , vol.6 , pp. 202-211
    • Ali, N.1    Jurczyluk, J.2    Shay, G.3    Tnimov, Z.4    Alexandrov, K.5    Munoz, M.A.6
  • 25
    • 0035930612 scopus 로고    scopus 로고
    • Identification of a novel phosphonocarboxylate inhibitor of Rab geranylgeranyl transferase that specifically prevents Rab prenylation in osteoclasts and macrophages
    • Coxon FP, Helfrich MH, Larijani B, Muzylak M, Dunford JE, Marshall D, et al. Identification of a novel phosphonocarboxylate inhibitor of Rab geranylgeranyl transferase that specifically prevents Rab prenylation in osteoclasts and macrophages. J Biol Chem 2001; 276: 48213-48222.
    • (2001) J Biol Chem , vol.276 , pp. 48213-48222
    • Coxon, F.P.1    Helfrich, M.H.2    Larijani, B.3    Muzylak, M.4    Dunford, J.E.5    Marshall, D.6
  • 26
    • 23844443254 scopus 로고    scopus 로고
    • Phosphonocarboxylate inhibitors of Rab geranylgeranyl transferase disrupt the prenylation and membrane localization of Rab proteins in osteoclasts in vitro and in vivo
    • Coxon FP, Ebetino FH, Mules EH, Seabra MC, McKenna CE, Rogers MJ. Phosphonocarboxylate inhibitors of Rab geranylgeranyl transferase disrupt the prenylation and membrane localization of Rab proteins in osteoclasts in vitro and in vivo. Bone 2005; 37: 349-358.
    • (2005) Bone , vol.37 , pp. 349-358
    • Coxon, F.P.1    Ebetino, F.H.2    Mules, E.H.3    Seabra, M.C.4    McKenna, C.E.5    Rogers, M.J.6
  • 27
  • 28
    • 0025220132 scopus 로고
    • 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
    • Gibson KM, Hoffmann G, Schwall A, Broock RL, Aramaki S, Sweetman L, 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. J Lipid Res 1990; 31: 515-521.
    • (1990) J Lipid Res , vol.31 , pp. 515-521
    • Gibson, K.M.1    Hoffmann, G.2    Schwall, A.3    Broock, R.L.4    Aramaki, S.5    Sweetman, L.6
  • 29
    • 69049116165 scopus 로고    scopus 로고
    • A small molecule that blocks fat synthesis by inhibiting the activation of SREBP
    • Kamisuki S, Mao Q, Abu-Elheiga L, Gu Z, Kugimiya A, Kwon Y, et al. A small molecule that blocks fat synthesis by inhibiting the activation of SREBP. Chem Biol 2009; 16: 882-892.
    • (2009) Chem Biol , vol.16 , pp. 882-892
    • Kamisuki, S.1    Mao, Q.2    Abu-Elheiga, L.3    Gu, Z.4    Kugimiya, A.5    Kwon, Y.6
  • 30
    • 84925581849 scopus 로고    scopus 로고
    • TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome
    • Stoffels M, Jongekrijg J, Remijn T, Kok N, van der Meer JW, Simon A. TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome. Rheumatology 2015; 54: 363-368.
    • (2015) Rheumatology , vol.54 , pp. 363-368
    • Stoffels, M.1    Jongekrijg, J.2    Remijn, T.3    Kok, N.4    Van Der Meer, J.W.5    Simon, A.6


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