메뉴 건너뛰기




Volumn 92, Issue 6, 2007, Pages 2248-2255

Peroxisome proliferator-activated receptor-γ C190S mutation causes partial lipodystrophy

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; ROSIGLITAZONE;

EID: 34347224036     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-2624     Document Type: Article
Times cited : (33)

References (46)
  • 1
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    • Cao H, Hegele RA 2000 Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 9:109-112
    • (2000) Hum Mol Genet , vol.9 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 3
    • 0033912260 scopus 로고    scopus 로고
    • Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
    • Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM 2000 Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Am J Hum Genet 66:1192-1198
    • (2000) Am J Hum Genet , vol.66 , pp. 1192-1198
    • Speckman, R.A.1    Garg, A.2    Du, F.3    Bennett, L.4    Veile, R.5    Arioglu, E.6    Taylor, S.I.7    Lovett, M.8    Bowcock, A.M.9
  • 4
    • 1542510700 scopus 로고    scopus 로고
    • Acquired and inherited lipodystrophies
    • Garg A 2004 Acquired and inherited lipodystrophies. N Engl J Med 350:1220-1234
    • (2004) N Engl J Med , vol.350 , pp. 1220-1234
    • Garg, A.1
  • 8
    • 0036894397 scopus 로고    scopus 로고
    • PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy
    • Hegele RA, Cao H, Frankowski C, Mathews ST, Leff T 2002 PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes 51:3586-3590
    • (2002) Diabetes , vol.51 , pp. 3586-3590
    • Hegele, R.A.1    Cao, H.2    Frankowski, C.3    Mathews, S.T.4    Leff, T.5
  • 9
    • 0036146384 scopus 로고    scopus 로고
    • A novel heterozygous mutation in peroxisome proliferator-activated receptor-γ gene in a patient with familial partial lipodystrophy
    • Argawal AK, Garg A 2002 A novel heterozygous mutation in peroxisome proliferator-activated receptor-γ gene in a patient with familial partial lipodystrophy. J Clin Endocrinol Metab 87:408-411
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 408-411
    • Argawal, A.K.1    Garg, A.2
  • 10
    • 8744247436 scopus 로고    scopus 로고
    • A single-base mutation in the peroxisome proliferator-activated receptor γ4 promoter associated with altered in vitro expression and partial lipodystrophy
    • Al-Shali K, Cao H, Knoers N, Hermus AR, Tack CJ, Hegele RA 2004 A single-base mutation in the peroxisome proliferator-activated receptor γ4 promoter associated with altered in vitro expression and partial lipodystrophy. J Clin Endocrinol Metab 89:5655-5660
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 5655-5660
    • Al-Shali, K.1    Cao, H.2    Knoers, N.3    Hermus, A.R.4    Tack, C.J.5    Hegele, R.A.6
  • 11
    • 33144478823 scopus 로고    scopus 로고
    • Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
    • Francis GA, Li G, Casey R, Wang J, Cao H, Leff T, Hegele RA 2006 Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). BMC Med Genet 7:3
    • (2006) BMC Med Genet , vol.7 , pp. 3
    • Francis, G.A.1    Li, G.2    Casey, R.3    Wang, J.4    Cao, H.5    Leff, T.6    Hegele, R.A.7
  • 12
    • 33748318070 scopus 로고    scopus 로고
    • A frameshift mutation in peroxisome-proliferator-activated receptor-γ in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367)
    • Hegele RA, Ur E, Ransom TP, Cao H 2006 A frameshift mutation in peroxisome-proliferator-activated receptor-γ in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367). Clin Genet 70:360-362
    • (2006) Clin Genet , vol.70 , pp. 360-362
    • Hegele, R.A.1    Ur, E.2    Ransom, T.P.3    Cao, H.4
  • 13
    • 0026517010 scopus 로고
    • Control of the peroxisomal -oxidation pathway by a novel family of nuclear hormone receptors
    • Dreyer C, Krey G, Keller H, Givel F, Helftenbein G, Wahli W 1992 Control of the peroxisomal -oxidation pathway by a novel family of nuclear hormone receptors. Cell 68:879-887
    • (1992) Cell , vol.68 , pp. 879-887
    • Dreyer, C.1    Krey, G.2    Keller, H.3    Givel, F.4    Helftenbein, G.5    Wahli, W.6
  • 15
    • 0034939632 scopus 로고    scopus 로고
    • Peroxisomal β-oxidation and peroxisome proliferator-activated receptor α: An adaptive metabolic system
    • Reddy JK, Hashimoto T 2001 Peroxisomal β-oxidation and peroxisome proliferator-activated receptor α: an adaptive metabolic system. Annu Rev Nutr 21:193-230
    • (2001) Annu Rev Nutr , vol.21 , pp. 193-230
    • Reddy, J.K.1    Hashimoto, T.2
  • 16
    • 0037453718 scopus 로고    scopus 로고
    • Peroxisome-proliferator-activated receptor δ activates fat metabolism to prevent obesity
    • Wang YX, Lee CH, Tiep S, Yu RT, Ham J, Kang H, Evans RM 2003 Peroxisome-proliferator-activated receptor δ activates fat metabolism to prevent obesity. Cell 113:159-170
    • (2003) Cell , vol.113 , pp. 159-170
    • Wang, Y.X.1    Lee, C.H.2    Tiep, S.3    Yu, R.T.4    Ham, J.5    Kang, H.6    Evans, R.M.7
  • 19
    • 0026705751 scopus 로고
    • Convergence of 9-cis retinoic acid and peroxisome proliferator signalling pathways through heterodimer formation of their receptors
    • Kliewer SA, Umesono K, Noonan DJ, Heyman RA, Evans RM 1992 Convergence of 9-cis retinoic acid and peroxisome proliferator signalling pathways through heterodimer formation of their receptors. Nature 358:771-774
    • (1992) Nature , vol.358 , pp. 771-774
    • Kliewer, S.A.1    Umesono, K.2    Noonan, D.J.3    Heyman, R.A.4    Evans, R.M.5
  • 20
    • 0026541591 scopus 로고
    • The mouse peroxisome proliferator activated receptor recognizes a response element in the 5′ flanking sequence of the rat acyl CoA oxidase gene
    • Tugwood JD, Issemann I, Anderson RG, Bundell KR, McPheat WL, Green S 1992 The mouse peroxisome proliferator activated receptor recognizes a response element in the 5′ flanking sequence of the rat acyl CoA oxidase gene. EMBO J 11:433-439
    • (1992) EMBO J , vol.11 , pp. 433-439
    • Tugwood, J.D.1    Issemann, I.2    Anderson, R.G.3    Bundell, K.R.4    McPheat, W.L.5    Green, S.6
  • 21
    • 0023769378 scopus 로고
    • The function and structure of the metal coordination sites within the glucocorticoid receptor DNA binding domain
    • Freedman LP, Luisi BF, Korszun ZR, Basavappa R, Sigler PB, Yamamoto KR 1988 The function and structure of the metal coordination sites within the glucocorticoid receptor DNA binding domain. Nature 334:543-546
    • (1988) Nature , vol.334 , pp. 543-546
    • Freedman, L.P.1    Luisi, B.F.2    Korszun, Z.R.3    Basavappa, R.4    Sigler, P.B.5    Yamamoto, K.R.6
  • 22
    • 13544249591 scopus 로고    scopus 로고
    • An intact DNA-binding domain is not required for peroxisome proliferator-activated receptor γ (PPARγ) binding and activation on some PPAR response elements
    • Temple KA, Cohen RN, Wondisford SR, Yu C, Deplewski D, Wondisford FE 2005 An intact DNA-binding domain is not required for peroxisome proliferator-activated receptor γ (PPARγ) binding and activation on some PPAR response elements. J Biol Chem 280:3529-3540
    • (2005) J Biol Chem , vol.280 , pp. 3529-3540
    • Temple, K.A.1    Cohen, R.N.2    Wondisford, S.R.3    Yu, C.4    Deplewski, D.5    Wondisford, F.E.6
  • 24
    • 0032582349 scopus 로고    scopus 로고
    • PPARγ3 mRNA: A distinct PPARγ mRNA subtype transcribed from an independent promoter
    • Fajas L, Fruchart JC, Auwerx J 1998 PPARγ3 mRNA: a distinct PPARγ mRNA subtype transcribed from an independent promoter. FEBS Lett 438:55-60
    • (1998) FEBS Lett , vol.438 , pp. 55-60
    • Fajas, L.1    Fruchart, J.C.2    Auwerx, J.3
  • 25
    • 0035929259 scopus 로고    scopus 로고
    • Identification of a novel peroxisome proliferatoractivated receptor (PPAR) γ promoter in man and transactivation by the nuclear receptor RORα1
    • Sundvold H, Lien S 2001 Identification of a novel peroxisome proliferatoractivated receptor (PPAR) γ promoter in man and transactivation by the nuclear receptor RORα1. Biochem Biophys Res Commun 287:383-390
    • (2001) Biochem Biophys Res Commun , vol.287 , pp. 383-390
    • Sundvold, H.1    Lien, S.2
  • 29
    • 85030522539 scopus 로고    scopus 로고
    • San Carlos, CA: DeLano Scientific LLC
    • DeLano WL 2002 The PyMOL Molecular Graphics System. San Carlos, CA: DeLano Scientific LLC (http://www.pymol.org)
    • (2002)
    • DeLano, W.L.1
  • 30
    • 0027978768 scopus 로고
    • Spectrum of transcriptional dimerization and dominant negative properties of twenty different mutant thyroid hormone β receptors in thyroid hormone resistance syndrome
    • Collingwood TN, Adams M, Tone Y, Chatterjee VKK 1994 Spectrum of transcriptional dimerization and dominant negative properties of twenty different mutant thyroid hormone β receptors in thyroid hormone resistance syndrome. Mol Endocrinol 8:1262-1277
    • (1994) Mol Endocrinol , vol.8 , pp. 1262-1277
    • Collingwood, T.N.1    Adams, M.2    Tone, Y.3    Chatterjee, V.K.K.4
  • 31
    • 0031057517 scopus 로고    scopus 로고
    • Transcriptional activation by peroxisome proliferator-activated receptor γ is inhibited by phosphorylation at a consensus mitogen-activated protein kinase site
    • Adams M, Reginato MJ, Shao D, Lazar MA, Chatterjee VK 1997 Transcriptional activation by peroxisome proliferator-activated receptor γ is inhibited by phosphorylation at a consensus mitogen-activated protein kinase site. J Biol Chem 272:5128-5132
    • (1997) J Biol Chem , vol.272 , pp. 5128-5132
    • Adams, M.1    Reginato, M.J.2    Shao, D.3    Lazar, M.A.4    Chatterjee, V.K.5
  • 32
    • 0033532158 scopus 로고    scopus 로고
    • Adipose expression of the phosphoenolpyruvate carboxykinase promoter requires peroxisome proliferator-activated receptor γ and 9-cis-retinoic acid receptor binding to an adipocyte-specific enhancer in vivo
    • Devine JH, Eubank DW, Clouthier DE, Tontonoz P, Spiegelman BM, Hammer RE, Beale EG 1999 Adipose expression of the phosphoenolpyruvate carboxykinase promoter requires peroxisome proliferator-activated receptor γ and 9-cis-retinoic acid receptor binding to an adipocyte-specific enhancer in vivo. J Biol Chem 274:13604-13612
    • (1999) J Biol Chem , vol.274 , pp. 13604-13612
    • Devine, J.H.1    Eubank, D.W.2    Clouthier, D.E.3    Tontonoz, P.4    Spiegelman, B.M.5    Hammer, R.E.6    Beale, E.G.7
  • 33
    • 0026693222 scopus 로고
    • Identification of a fat cell enhancer: Analysis of requirements for adipose tissue-specific gene expression
    • Graves RA, Tontonoz P, Platt KA, Ross SR, Spiegelman BM 1992 Identification of a fat cell enhancer: analysis of requirements for adipose tissue-specific gene expression. J Cell Biochem 49:219-224
    • (1992) J Cell Biochem , vol.49 , pp. 219-224
    • Graves, R.A.1    Tontonoz, P.2    Platt, K.A.3    Ross, S.R.4    Spiegelman, B.M.5
  • 34
    • 0037677767 scopus 로고    scopus 로고
    • Induction of adiponectin, a fat-derived antidiabetic and antiatherogenic factor, by nuclear receptors
    • Iwaki M, Matsuda M, Maeda N, Funahashi T, Matsuzawa Y, Makishima M, Shimomura I 2003 Induction of adiponectin, a fat-derived antidiabetic and antiatherogenic factor, by nuclear receptors. Diabetes 52:1655-1663
    • (2003) Diabetes , vol.52 , pp. 1655-1663
    • Iwaki, M.1    Matsuda, M.2    Maeda, N.3    Funahashi, T.4    Matsuzawa, Y.5    Makishima, M.6    Shimomura, I.7
  • 35
    • 0029994543 scopus 로고    scopus 로고
    • Role of the peroxisome proliferator-activated receptor (PPAR) in mediating the effects of fibrates and fatty acids on gene expression
    • Schoonjans K, Staels B, Auwerx J 1996 Role of the peroxisome proliferator-activated receptor (PPAR) in mediating the effects of fibrates and fatty acids on gene expression. J Lipid Res 37:907-925
    • (1996) J Lipid Res , vol.37 , pp. 907-925
    • Schoonjans, K.1    Staels, B.2    Auwerx, J.3
  • 38
    • 0019842076 scopus 로고
    • New norms of upper limb fat and muscle areas for assessment of nutritional status
    • Frisancho AR 1981 New norms of upper limb fat and muscle areas for assessment of nutritional status. Am J Clin Nutr 34:2540-2545
    • (1981) Am J Clin Nutr , vol.34 , pp. 2540-2545
    • Frisancho, A.R.1
  • 39
    • 0030818756 scopus 로고    scopus 로고
    • Polarity and specific sequence requirements of peroxisome proliferator-activated receptor (PPAR)/retinoid X receptor heterodimer binding to DNA. A functional analysis of the malic enzyme gene PPAR response element
    • Ijpenberg A, Jeannin E, Wahli W, Desvergne B 1997 Polarity and specific sequence requirements of peroxisome proliferator-activated receptor (PPAR)/retinoid X receptor heterodimer binding to DNA. A functional analysis of the malic enzyme gene PPAR response element. J Biol Chem 272:20108-20117
    • (1997) J Biol Chem , vol.272 , pp. 20108-20117
    • Ijpenberg, A.1    Jeannin, E.2    Wahli, W.3    Desvergne, B.4
  • 40
    • 0025223160 scopus 로고
    • Solution structure of the DNA-binding domain of the oestrogen receptor
    • Schwabe JW, Neuhaus D, Rhodes D 1990 Solution structure of the DNA-binding domain of the oestrogen receptor. Nature 348:458-461
    • (1990) Nature , vol.348 , pp. 458-461
    • Schwabe, J.W.1    Neuhaus, D.2    Rhodes, D.3
  • 43
    • 0034074434 scopus 로고    scopus 로고
    • Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes
    • Hegele RA, Anderson CM, Wang J, Jones DC, Cao H 2000 Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. Genome Res 10:652-658
    • (2000) Genome Res , vol.10 , pp. 652-658
    • Hegele, R.A.1    Anderson, C.M.2    Wang, J.3    Jones, D.C.4    Cao, H.5
  • 44
    • 0037235933 scopus 로고    scopus 로고
    • Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A/C (LMNA) with partial lipodystrophy
    • Hegele RA, Kraw ME, Ban MR, Miskie BA, Huff MW, Cao H 2003 Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A/C (LMNA) with partial lipodystrophy. Arterioscler Thromb Vasc Biol 23:111-116
    • (2003) Arterioscler Thromb Vasc Biol , vol.23 , pp. 111-116
    • Hegele, R.A.1    Kraw, M.E.2    Ban, M.R.3    Miskie, B.A.4    Huff, M.W.5    Cao, H.6
  • 46
    • 34249852935 scopus 로고    scopus 로고
    • Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor γ
    • Monajemi H, Zhang L, Li G, Jeninga EH, Cao H, Maas M, Brouwer CB, Kalkhoven E, Stroes E, Hegele RA, Leff T 2007 Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor γ. J Clin Endocrinol Metab 92:1606-1612
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 1606-1612
    • Monajemi, H.1    Zhang, L.2    Li, G.3    Jeninga, E.H.4    Cao, H.5    Maas, M.6    Brouwer, C.B.7    Kalkhoven, E.8    Stroes, E.9    Hegele, R.A.10    Leff, T.11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.