Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients
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[1] J. Bilbao,et al. Mutations in GCK and HNF‐1α explain the majority of cases with clinical diagnosis of MODY in Spain , 2007, Clinical endocrinology.
[2] A. Marina,et al. Structure—function analysis of the α5 and the α13 helices of human glucokinase: Description of two novel activating mutations , 2005 .
[3] Giuseppe d'Annunzio,et al. Insights into the Structure and Regulation of Glucokinase from a Novel Mutation (V62M), Which Causes Maturity-onset Diabetes of the Young* , 2005, Journal of Biological Chemistry.
[4] H. Najafi,et al. Glucokinase and glucose homeostasis: proven concepts and new ideas. , 2005, Biochemical Society transactions.
[5] A. Gloyn,et al. Glucokinase and the Regulation of Blood Sugar , 2004 .
[6] A. Hattersley,et al. Maturity Onset Diabetes of the Young Type 2 , 2004 .
[7] Teruyuki Nishimura,et al. Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase. , 2004, Structure.
[8] A. Molven,et al. Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. , 2003, Diabetes.
[9] A. Gloyn. Glucokinase (GCK) mutations in hyper‐ and hypoglycemia: Maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy , 2003, Human mutation.
[10] F. Matschinsky. Regulation of Pancreatic β-Cell Glucokinase: From Basics to Therapeutics , 2002 .
[11] T. Hansen,et al. The genetic abnormality in the beta cell determines the response to an oral glucose load , 2002, Diabetologia.
[12] P. Sanz,et al. Human pancreatic glucokinase (GlkB) complements the glucose signalling defect of Saccharomyces cerevisiae hxk2 mutants , 2001, Yeast.
[13] R. Lorini,et al. High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI , 2001, Diabetologia.
[14] P. Froguel,et al. Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families. , 2000, European journal of endocrinology.
[15] Stephen P. Miller,et al. Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype. , 1999, Diabetes.
[16] P. Njølstad,et al. A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity‐onset diabetes of the young , 1998, Acta paediatrica.
[17] B. Glaser,et al. Pancreatic beta-cell glucokinase: closing the gap between theoretical concepts and experimental realities. , 1998, Diabetes.
[18] P. Froguel,et al. Maturity-onset diabetes of the young (MODY), MODY genes and non-insulin-dependent diabetes mellitus. , 1997, Diabetes & metabolism.
[19] F M Matschinsky,et al. A Lesson in Metabolic Regulation Inspired by the Glucokinase Glucose Sensor Paradigm , 1996, Diabetes.
[20] M. Permutt,et al. Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme. , 1995, The Biochemical journal.
[21] M. Permutt,et al. Glucokinase as pancreatic beta cell glucose sensor and diabetes gene. , 1993, The Journal of clinical investigation.
[22] M. Browner,et al. Expression of the catalytic subunit of phosphorylase phosphatase (protein phosphatase-1) in Escherichia coli. , 1992, The Journal of biological chemistry.
[23] P. Kraulis. A program to produce both detailed and schematic plots of protein structures , 1991 .
[24] E. Blázquez,et al. Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability. , 2006, The Biochemical journal.
[25] A. Marina,et al. Structure-function analysis of the alpha5 and the alpha13 helices of human glucokinase: description of two novel activating mutations. , 2005, Protein science : a publication of the Protein Society.
[26] F. Matschinsky. Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics. , 2002, Diabetes.
[27] T A Jones,et al. Electron-density map interpretation. , 1997, Methods in enzymology.
[28] E A Merritt,et al. Raster3D: photorealistic molecular graphics. , 1997, Methods in enzymology.