메뉴 건너뛰기




Volumn 23, Issue 20, 2014, Pages 5570-5578

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOKINASE; GLUCOKINASE REGULATORY PROTEIN; PROTEIN VARIANT; REGULATOR PROTEIN; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; GCKR PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

EID: 84911861463     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu269     Document Type: Article
Times cited : (19)

References (31)
  • 1
    • 84878107677 scopus 로고    scopus 로고
    • From genetic discovery to future personalized health research
    • Palotie, A., Widen, E. and Ripatti, S. (2013) From genetic discovery to future personalized health research. Nat. Biotechnol., 30, 291-295.
    • (2013) Nat. Biotechnol. , vol.30 , pp. 291-295
    • Palotie, A.1    Widen, E.2    Ripatti, S.3
  • 3
    • 84855425880 scopus 로고    scopus 로고
    • Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes
    • Rees, M.G., Ng, D., Ruppert, S., Turner, C., Beer, N.L., Swift, A.J., Morken, M.A., Below, J.E., Blech, I., Mullikin, J.C. et al. (2012) Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. J. Clin. Invest., 122, 205-217.
    • (2012) J. Clin. Invest. , vol.122 , pp. 205-217
    • Rees, M.G.1    Ng, D.2    Ruppert, S.3    Turner, C.4    Beer, N.L.5    Swift, A.J.6    Morken, M.A.7    Below, J.E.8    Blech, I.9    Mullikin, J.C.10
  • 5
    • 77955868835 scopus 로고    scopus 로고
    • Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations
    • Flanagan, S.E., Patch, A.M. and Ellard, S. (2010) Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet. Test. Mol. Biomarkers, 14, 533-537.
    • (2010) Genet. Test. Mol. Biomarkers , vol.14 , pp. 533-537
    • Flanagan, S.E.1    Patch, A.M.2    Ellard, S.3
  • 6
    • 0024556170 scopus 로고
    • Genetic heritability and common environmental components of resting and stressed blood pressures, lipids, and body mass index in Utah pedigrees and twins
    • Hunt, S.C., Hasstedt, S.J., Kuida, H., Stults, B.M., Hopkins, P.N. and Williams, R.R. (1989) Genetic heritability and common environmental components of resting and stressed blood pressures, lipids, and body mass index in Utah pedigrees and twins. Am. J. Epidemiol., 129, 625-638.
    • (1989) Am. J. Epidemiol. , vol.129 , pp. 625-638
    • Hunt, S.C.1    Hasstedt, S.J.2    Kuida, H.3    Stults, B.M.4    Hopkins, P.N.5    Williams, R.R.6
  • 9
    • 70349980881 scopus 로고    scopus 로고
    • The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver
    • Beer, N.L., Tribble, N.D., McCulloch, L.J., Roos, C., Johnson, P.R., Orho-Melander, M. and Gloyn, A.L. (2009) The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver. Hum. Mol. Genet., 18, 4081-4088.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 4081-4088
    • Beer, N.L.1    Tribble, N.D.2    McCulloch, L.J.3    Roos, C.4    Johnson, P.R.5    Orho-Melander, M.6    Gloyn, A.L.7
  • 12
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • Ng, P.C. and Henikoff, S. (2001) Predicting deleterious amino acid substitutions. Genome Res., 11, 863-874.
    • (2001) Genome Res. , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 14
    • 79953715693 scopus 로고    scopus 로고
    • Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
    • Gonzalez-Perez, A. and Lopez-Bigas, N. (2011) Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am. J. Hum. Genet., 88, 440-449.
    • (2011) Am. J. Hum. Genet. , vol.88 , pp. 440-449
    • Gonzalez-Perez, A.1    Lopez-Bigas, N.2
  • 17
    • 54249088172 scopus 로고    scopus 로고
    • Commonmissense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations
    • Orho-Melander, M., Melander, O., Guiducci, C., Perez-Martinez, P., Corella, D., Roos, C., Tewhey, R., Rieder, M.J., Hall, J., Abecasis, G. et al. (2008)Commonmissense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes, 57, 3112-3121.
    • (2008) Diabetes , vol.57 , pp. 3112-3121
    • Orho-Melander, M.1    Melander, O.2    Guiducci, C.3    Perez-Martinez, P.4    Corella, D.5    Roos, C.6    Tewhey, R.7    Rieder, M.J.8    Hall, J.9    Abecasis, G.10
  • 18
    • 67349139275 scopus 로고    scopus 로고
    • Assessing the potential of glucokinase activators in diabetes therapy
    • Matschinsky, F.M. (2009) Assessing the potential of glucokinase activators in diabetes therapy. Nat. Rev. Drug Discov., 8, 399-416.
    • (2009) Nat. Rev. Drug Discov. , vol.8 , pp. 399-416
    • Matschinsky, F.M.1
  • 19
    • 84862215515 scopus 로고    scopus 로고
    • Effects of a glucokinase activator on hepatic intermediary metabolism: study with (13)C-isotopomer-based metabolomics
    • Nissim, I., Horyn, O., Daikhin, Y., Wehrli, S.L., Yudkoff, M. and Matschinsky, F.M. (2012) Effects of a glucokinase activator on hepatic intermediary metabolism: study with (13)C-isotopomer-based metabolomics. Biochem. J., 444, 537-551.
    • (2012) Biochem. J. , vol.444 , pp. 537-551
    • Nissim, I.1    Horyn, O.2    Daikhin, Y.3    Wehrli, S.L.4    Yudkoff, M.5    Matschinsky, F.M.6
  • 20
    • 84871586858 scopus 로고    scopus 로고
    • Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?
    • Rees, M.G. and Gloyn, A.L. (2013) Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour? Br. J. Pharmacol., 168, 335-338.
    • (2013) Br. J. Pharmacol. , vol.168 , pp. 335-338
    • Rees, M.G.1    Gloyn, A.L.2
  • 21
    • 84871604441 scopus 로고    scopus 로고
    • Small molecule glucokinase activators disturb lipid homeostasis and induce fatty liver in rodents: a warning for therapeutic applications in humans
    • De Ceuninck, F., Kargar, C., Ilic, C., Caliez, A., Rolin, J.O., Umbdenstock, T., Vinson, C., Combettes, M., de Fanti, B., Harley, E. et al. (2013) Small molecule glucokinase activators disturb lipid homeostasis and induce fatty liver in rodents: a warning for therapeutic applications in humans. Br. J. Pharmacol., 168, 339-353.
    • (2013) Br. J. Pharmacol. , vol.168 , pp. 339-353
    • De Ceuninck, F.1    Kargar, C.2    Ilic, C.3    Caliez, A.4    Rolin, J.O.5    Umbdenstock, T.6    Vinson, C.7    Combettes, M.8    de Fanti, B.9    Harley, E.10
  • 22
    • 81555210580 scopus 로고    scopus 로고
    • Effects of MK-0941,a novel glucokinase activator, on glycemic control in insulin-treated patients with type 2 diabetes
    • Meininger, G.E., Scott, R., Alba, M., Shentu, Y., Luo, E., Amin, H., Davies, M.J., Kaufman, K.D. and Goldstein, B.J. (2011) Effects of MK-0941,a novel glucokinase activator, on glycemic control in insulin-treated patients with type 2 diabetes. Diabetes Care, 34, 2560-2566.
    • (2011) Diabetes Care , vol.34 , pp. 2560-2566
    • Meininger, G.E.1    Scott, R.2    Alba, M.3    Shentu, Y.4    Luo, E.5    Amin, H.6    Davies, M.J.7    Kaufman, K.D.8    Goldstein, B.J.9
  • 26
    • 84891719457 scopus 로고    scopus 로고
    • Glucose-induced dissociation of glucokinase from its regulatory protein in the nucleus of hepatocytes prior to nuclear export
    • Kaminski, M.T., Schultz, J., Waterstradt, R., Tiedge, M., Lenzen, S. and Baltrusch, S. (2013) Glucose-induced dissociation of glucokinase from its regulatory protein in the nucleus of hepatocytes prior to nuclear export. Biochim. Biophys. Acta, 1843, 554-564.
    • (2013) Biochim. Biophys. Acta , vol.1843 , pp. 554-564
    • Kaminski, M.T.1    Schultz, J.2    Waterstradt, R.3    Tiedge, M.4    Lenzen, S.5    Baltrusch, S.6
  • 27
    • 84895887627 scopus 로고    scopus 로고
    • A Panel of Diverse Assays to Interrogate the Interaction between Glucokinase and Glucokinase Regulatory Protein, Two Vital Proteins in Human Disease
    • Rees, M.G., Davis, M.I., Shen, M., Titus, S., Raimondo, A., Barrett, A., Gloyn, A.L., Collins, F.S. and Simeonov, A. (2014) A Panel of Diverse Assays to Interrogate the Interaction between Glucokinase and Glucokinase Regulatory Protein, Two Vital Proteins in Human Disease. PLoS One, 9, e89335.
    • (2014) PLoS One , vol.9
    • Rees, M.G.1    Davis, M.I.2    Shen, M.3    Titus, S.4    Raimondo, A.5    Barrett, A.6    Gloyn, A.L.7    Collins, F.S.8    Simeonov, A.9
  • 28
    • 25844494498 scopus 로고    scopus 로고
    • Interaction of glucokinase with the liver regulatory protein is conferred by leucine- asparagine motifs of the enzyme
    • Baltrusch, S., Francini, F., Lenzen, S. and Tiedge, M. (2005) Interaction of glucokinase with the liver regulatory protein is conferred by leucine- asparagine motifs of the enzyme. Diabetes, 54, 2829-2837.
    • (2005) Diabetes , vol.54 , pp. 2829-2837
    • Baltrusch, S.1    Francini, F.2    Lenzen, S.3    Tiedge, M.4
  • 29
    • 0029034723 scopus 로고
    • Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme
    • Liang, Y., Kesavan, P., Wang, L.Q., Niswender, K., Tanizawa, Y., Permutt, M.A., Magnuson, M.A. and Matschinsky, F.M. (1995) Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme. Biochem. J., 309(Pt 1), 167-173.
    • (1995) Biochem. J. , vol.309 , pp. 167-173
    • Liang, Y.1    Kesavan, P.2    Wang, L.Q.3    Niswender, K.4    Tanizawa, Y.5    Permutt, M.A.6    Magnuson, M.A.7    Matschinsky, F.M.8
  • 30
    • 20544439816 scopus 로고    scopus 로고
    • Piezo- and solenoid valve-based liquid dispensing for miniaturized assays
    • Niles, W.D. and Coassin, P.J. (2005) Piezo- and solenoid valve-based liquid dispensing for miniaturized assays. Assay Drug Dev. Technol., 3, 189-202.
    • (2005) Assay Drug Dev. Technol. , vol.3 , pp. 189-202
    • Niles, W.D.1    Coassin, P.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.