메뉴 건너뛰기




Volumn 129, Issue 3, 2011, Pages 231-238

Insight into the biochemical characteristics of a novel glucokinase gene mutation

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOKINASE; GLUTAMINE; GLUTATHIONE TRANSFERASE; LYSINE; RECOMBINANT PROTEIN;

EID: 79953749884     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0914-4     Document Type: Article
Times cited : (11)

References (41)
  • 3
    • 0032875616 scopus 로고    scopus 로고
    • Mutants of glucokinase cause hypoglycaemia- And hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis
    • DOI 10.1007/s001250051289
    • Davis EA, Cuesta-Muñoz A, Raoul M, Buettger C, Sweet I, Moates M, Magnuson MA, Matschinsky FM (1999) Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis. Diabetologia 42:1175-1186 (Pubitemid 29459813)
    • (1999) Diabetologia , vol.42 , Issue.10 , pp. 1175-1186
    • Davis, E.A.1    Cuesta-Munoz, A.2    Raoul, M.3    Buettger, C.4    Sweet, I.5    Moates, M.6    Magnuson, M.A.7    Matschinsky, F.M.8
  • 4
    • 73549090116 scopus 로고    scopus 로고
    • Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation
    • Ding S, Tribble ND, Kraft CA, Markwardt M, Gloyn AL, Rizzo MA (2010) Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation. Mol Endocrinol 24:171-177
    • (2010) Mol Endocrinol , vol.24 , pp. 171-177
    • Ding, S.1    Tribble, N.D.2    Kraft, C.A.3    Markwardt, M.4    Gloyn, A.L.5    Rizzo, M.A.6
  • 5
    • 43449100654 scopus 로고    scopus 로고
    • Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients
    • Estalella I, Garcia-Gimeno MA, Marina A, Castaño L, Sanz P (2008) Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients. J Hum Genet 53:460-466
    • (2008) J Hum Genet , vol.53 , pp. 460-466
    • Estalella, I.1    Garcia-Gimeno, M.A.2    Marina, A.3    Castaño, L.4    Sanz, P.5
  • 11
    • 21444456328 scopus 로고    scopus 로고
    • Genetic and clinical characteristics of maturity-onset diabetes of the young
    • DOI 10.1111/j.1463-1326.2004.00399.x
    • Giuffrida FMA, Reis AF (2005) Genetic and clinical characteristics of maturity-onset diabetes of the young. Diabetes Obes Metab 7:318-326 (Pubitemid 40916573)
    • (2005) Diabetes, Obesity and Metabolism , vol.7 , Issue.4 , pp. 318-326
    • Giuffrida, F.M.A.1    Reis, A.F.2
  • 15
    • 33751322380 scopus 로고    scopus 로고
    • Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients
    • DOI 10.1016/j.diabres.2006.03.002, PII S016882270600074X
    • Hwang JS, Shin CH, Yang SW, Jung SY, Huh N (2006) Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients. Diabetes Res Clin Pract 74:75-81 (Pubitemid 44810194)
    • (2006) Diabetes Research and Clinical Practice , vol.74 , Issue.1 , pp. 75-81
    • Hwang, J.S.1    Shin, C.H.2    Yang, S.W.3    Jung, S.Y.4    Huh, N.5
  • 16
    • 0031050536 scopus 로고    scopus 로고
    • Structural instability of mutant β-cell glucokinase: Implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2)
    • Kesavan P, Wang L, Davis E, Cuesta A, Sweet I, Niswender K, Magnuson MA, Matschinsky FM (1997) Structural instability of mutant β-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2). Biochem J 322:57-63 (Pubitemid 27095522)
    • (1997) Biochemical Journal , vol.322 , Issue.1 , pp. 57-63
    • Kesavan, P.1    Wang, L.2    Davis, E.3    Cuesta, A.4    Sweet, I.5    Niswender, K.6    Magnuson, M.A.7    Matschinsky, F.M.8
  • 17
    • 0029034723 scopus 로고
    • Variable effects of maturity-onset diabetes of the young (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme
    • Liang Y, Kesavan P, Wang LQ, Niswender K, Tanizawa Y, Permutt MA, Magnuson MA, Matschinsky FM (1995) Variable effects of maturity-onset diabetes of the young (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme. Biochem J 309:167-173
    • (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
  • 18
    • 70349658847 scopus 로고    scopus 로고
    • Maturity-onset diabetes of the young in children with incidental hyperglycemia: A multicenter Italian study of 172 families
    • the Italian Society of Pediatric Endocrinology, Diabetiology (ISPED) Study Group
    • Lorini R, Klersy C, d'Annunzio G, Massa O, Minuto N, Iafusco D, Bellannè-Chantelot C, Frongia AP, Toni S, Meschi F, Cerutti F, Barbetti F, the Italian Society of Pediatric Endocrinology, Diabetiology (ISPED) Study Group (2009) Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. Diabetes Care 32:1864-1866
    • (2009) Diabetes Care , vol.32 , pp. 1864-1866
    • Lorini, R.1    Klersy, C.2    D'Annunzio, G.3    Massa, O.4    Minuto, N.5    Iafusco, D.6    Bellannè-Chantelot, C.7    Frongia, A.P.8    Toni, S.9    Meschi, F.10    Cerutti, F.11    Barbetti, F.12
  • 19
    • 0032880513 scopus 로고    scopus 로고
    • Structural model of human glucokinase in complex with glucose and ATP: Implications for the mutants that cause hypo- And hyperglycemia
    • DOI 10.2337/diabetes.48.9.1698
    • Mahalingam B, Cuesta-Munoz A, Davis EA, Matschinsky FM, Harrison RW, Weber IT (1999) Structural model of human glucokinase in complex with glucose and ATP: implications for the mutants that cause hypo- and hyperglycaemia. Diabetes 48:1698-1705 (Pubitemid 29415186)
    • (1999) Diabetes , vol.48 , Issue.9 , pp. 1698-1705
    • Mahalingam, B.1    Cuesta-Munoz, A.2    Davis, E.A.3    Matschinsky, F.M.4    Harrison, R.W.5    Weber, I.T.6
  • 21
    • 0025334163 scopus 로고
    • Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes
    • Matschinsky FM (1990) Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes. Diabetes 39:647-652
    • (1990) Diabetes , vol.39 , pp. 647-652
    • Matschinsky, F.M.1
  • 22
    • 0030067124 scopus 로고    scopus 로고
    • Banting Lecture 1995: A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm
    • Matschinsky FM (1996) Banting Lecture 1995: a lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm. Diabetes 45:223-241
    • (1996) Diabetes , vol.45 , pp. 223-241
    • Matschinsky, F.M.1
  • 23
    • 23844433186 scopus 로고    scopus 로고
    • Glucokinase, glucose homeostasis, and diabetes mellitus
    • Matschinsky FM (2005) Glucokinase, glucose homeostasis, and diabetes mellitus. Curr Diab Rep 5:171-176
    • (2005) Curr Diab Rep , vol.5 , pp. 171-176
    • Matschinsky, F.M.1
  • 24
    • 0032792499 scopus 로고    scopus 로고
    • Characterization of glucokinase mutations associated with maturity- Onset diabetes of the young type 2 (MODY-2): Different glucokinase defects lead to a common phenotype
    • DOI 10.2337/diabetes.48.8.1645
    • Miller SP, Anand GR, Karschnia EJ, Bell GI, LaPorte DC, Lange AJ (1999) Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype. Diabetes 48:1645-1651 (Pubitemid 29356875)
    • (1999) Diabetes , vol.48 , Issue.8 , pp. 1645-1651
    • Miller, S.P.1    Anand, G.R.2    Karschnia, E.J.3    Bell, G.I.4    LaPorte, D.C.5    Lange, A.J.6
  • 26
    • 70350741368 scopus 로고    scopus 로고
    • Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
    • Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL (2009) Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mut 30:1512-1526
    • (2009) Hum Mut , vol.30 , pp. 1512-1526
    • Osbak, K.K.1    Colclough, K.2    Saint-Martin, C.3    Beer, N.L.4    Bellanné- Chantelot, C.5    Ellard, S.6    Gloyn, A.L.7
  • 27
    • 21344455074 scopus 로고    scopus 로고
    • Dual role of phosphofructokinase-2/fructose bisphosphatase-2 in regulating the compartmentation and expression of glucokinase in hepatocytes
    • DOI 10.2337/diabetes.54.7.1949
    • Payne VA, Arden C, Wu C, Lange AJ, Agius L (2005) Dual role of phosphofructokinase-2/fructose bisphosphatase-2 in regulating the compartmentation and expression of glucokinase in hepatocytes. Diabetes 54:1949-1957 (Pubitemid 40911256)
    • (2005) Diabetes , vol.54 , Issue.7 , pp. 1949-1957
    • Payne, V.A.1    Arden, C.2    Wu, C.3    Lange, A.J.4    Agius, L.5
  • 29
    • 0033791170 scopus 로고    scopus 로고
    • MODY 2 presenting as neonatal hyperglycaemia: A need to reshape the definition of ''neonatal diabetes''?
    • Prisso F, Iafusco D, Franzese A, Sulli N, Barbetti F (2000) MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of ''neonatal diabetes''? Diabetologia 43:1331-1332
    • (2000) Diabetologia , vol.43 , pp. 1331-1332
    • Prisso, F.1    Iafusco, D.2    Franzese, A.3    Sulli, N.4    Barbetti, F.5
  • 30
    • 64849102053 scopus 로고    scopus 로고
    • Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type
    • Ralph EC, Sun S (2009) Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type. Biochemistry 48:2514-2521
    • (2009) Biochemistry , vol.48 , pp. 2514-2521
    • Ralph, E.C.1    Sun, S.2
  • 32
    • 65549131516 scopus 로고    scopus 로고
    • Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with type 2 diabetes mellitus (T2DM) in Children and adolescents: Experience from a large multicentre database
    • on behalf of the DPV-Wiss Initiative of the German Working Group for Paediatric Diabetology and the German Competence Network Diabetes Mellitus
    • Schober E, Rami B, Grabert M, Thont A, Kapellen T, Reinehr T, Holl RW on behalf of the DPV-Wiss Initiative of the German Working Group for Paediatric Diabetology and the German Competence Network Diabetes Mellitus (2009) Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with type 2 diabetes mellitus (T2DM) in Children and adolescents: experience from a large multicentre database. Diabet Med 26:466-473
    • (2009) Diabet Med , vol.26 , pp. 466-473
    • Schober, E.1    Rami, B.2    Grabert, M.3    Thont, A.4    Kapellen, T.5    Reinehr, T.6    Holl, R.W.7
  • 33
    • 0031253820 scopus 로고    scopus 로고
    • Early-onset type 2 diabetes mellitus (MODY4) linked to IPF1
    • Staffers DA, Ferrer J, Clarke WL, Habener JF (1997) Early-onset type 2 diabetes mellitus (MODY4) linked to IPF1. Nat Genet 17:138-139
    • (1997) Nat Genet , vol.17 , pp. 138-139
    • Staffers, D.A.1    Ferrer, J.2    Clarke, W.L.3    Habener, J.F.4
  • 34
    • 0026639928 scopus 로고
    • Human glucokinase gene: Isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus
    • Stoffel M, Froguel P, Takeda J, Zouali H, Vionnet N, Nishi S, Weber IT, Harrison RW, Pilkis SJ, Lesage S (1992) Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. Proc Natl Acad Sci USA 89:7698-7702
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 7698-7702
    • Stoffel, M.1    Froguel, P.2    Takeda, J.3    Zouali, H.4    Vionnet, N.5    Nishi, S.6    Weber, I.T.7    Harrison, R.W.8    Pilkis, S.J.9    Lesage, S.10
  • 36
    • 43549084587 scopus 로고    scopus 로고
    • Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes
    • DOI 10.1210/er.2007-0024
    • Vaxillaire M, Froguel P (2008) Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. Endocr Rev 29:254-264 (Pubitemid 351679698)
    • (2008) Endocrine Reviews , vol.29 , Issue.3 , pp. 254-264
    • Vaxillaire, M.1    Froguel, P.2
  • 41
    • 0021751323 scopus 로고
    • Effect of amino acid residues on conformational stability in eight mutant proteins variously substituted at a unique position of the tryptophan synthase a-subunit
    • Yutani K, Ogasahara K, Aoki K, Kakuno T, Sugino Y (1984) Effect of amino acid residues on conformational stability in eight mutant proteins variously substituted at a unique position of the tryptophan synthase a-subunit. J Biol Chem 259:14076-14081 (Pubitemid 15222848)
    • (1984) Journal of Biological Chemistry , vol.259 , Issue.22 , pp. 14076-14081
    • Yutani, K.1    Ogasahara, K.2    Aoki, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.