Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

Human Mutation

Volumn 30, Issue 11, 2009, Pages 1512-1526

  Osbak, Kara K ^a   Colclough, Kevin ^b   Saint Martin, Cecile ^c   Beer, Nicola L ^a   Bellanné Chantelot, Christine ^c   Ellard, Sian ^b,d   Gloyn, Anna L ^a,e  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d PENINSULA MEDICAL SCHOOL   (United Kingdom)

^e CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

GCK; Glucokinase; Hyperinsulinemic hypoglycemia; MODY; Permanent neonatal diabetes; PNDM

Indexed keywords

ADENOSINE TRIPHOSPHATE; CPG OLIGODEOXYNUCLEOTIDE; DIAZOXIDE; DNA FORMAMIDOPYRIMIDINE GLYCOSYLASE; GLIBENCLAMIDE; GLUCOKINASE; INSULIN; SULFONYLUREA;

CLINICAL ASSESSMENT; CRYSTAL STRUCTURE; DIABETES MELLITUS; ENZYME BINDING; ENZYME REGULATION; ENZYME STRUCTURE; GENE IDENTIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERINSULINEMIC HYPOGLYCEMIA; HYPOGLYCEMIA; INSULIN BLOOD LEVEL; INSULIN RELEASE; INSULIN TREATMENT; MATHEMATICAL MODEL; MATURITY ONSET DIABETES MELLITUS; METABOLIC DISORDER; MISSENSE MUTATION; NONHUMAN; ONSET AGE; ORAL GLUCOSE TOLERANCE TEST; PANCREAS ISLET BETA CELL; PANCREAS RESECTION; PERMANENT NEONATAL DIABETES MELLITUS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROCESSING; REGULATORY MECHANISM; REVIEW; TRANSGENIC RAT;

ANIMALS; DIABETES MELLITUS, TYPE 2; DISEASE MODELS, ANIMAL; GENETIC PREDISPOSITION TO DISEASE; GLUCOKINASE; HUMANS; MICE; MUTATION; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY;

EID: 70350741368     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21110     Document Type: Review

References (185)

1. Aigner B, Rathkolb B, Herbach N, Hrabe de Angelis M, Wanke R, Wolf E. 2008. Diabetes models by screen for hyperglycaemia in phenotype-driven ENU mouse mutagenesis projects. Am J Physiol Endocrinol Metab 294:E232-E240. (Pubitemid 351231449)
2. Alvarez E, Roncero I, Chowen JA, Vazquez P, Blazquez E. 2002. Evidence that glucokinase regulatory protein is expressed and interacts with glucokinase in rat brain. J Neurochem 80:45-53. (Pubitemid 34614576)
3. Arden C, Trainer A, de la Iglesia N, Scougall KT, Gloyn AL, Lange AJ, Shaw JA, Matschinsky FM, Agius L. 2007. Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity. Diabetes 56:1773-1782. (Pubitemid 47025445)
4. Babenko AP, Polak M, Cave H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P. 2006. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 355:456-466. (Pubitemid 44162273)
5. Bali D, Svetlanov A, Lee HW, Fusco-DeMane D, Leiser M, Li B, Barzilai N, Surana M, Hou H, Fleischer N, DePinho R, Rossetti L, Efrat S. 1995. Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene. J Biol Chem 270:21464-21467.
6. Baltrusch S, Lenzen S, Okar DA, Lange AJ, Tiedge M. 2001. Characterization of glucokinase-binding protein epitopes by a phage-displayed peptide library. Identification of 6-phosphofructo-2-kinase/fructose-2,6- bisphosphatase as a novel interaction partner. J Biol Chem 276:43915-43923. (Pubitemid 37383960)
7. Barrio R, Bellanne-Chantelot C, Moreno JC, Morel V, Calle H, Alonso M, Mustieles C. 2002. Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. J Clin Endocrinol Metab 87:2532-2539. (Pubitemid 34655310)
8. Bell G, Cuesta-Munoz A, Matschinsky F. 2002. Glucokinase. In: Wiley encyclopedia of molecular medicine. New York: John Wiley & Sons, p 1437-1441.
9. Bellanne-Chantelot C, Iafusco D, Blanche H, Puca MR, Clauin S, Morel V, Le Gall I, Thomas G, Prisco F. 1998. Screening for mutations in the glucokinase (MODY2/ GCK) and hepatocyte nuclear factor 1-a (MODY3/HNF-1a) genes in south Italian families (Abstract). Diabetologia 41(Suppl. 1A 109):423.
10. Berger M, Monks D, Schmidt H, Krane V, Wanner C, Walter U, Lindner TH. 2005. Are glucokinase mutations associated with low triglycerides? Clin Chem 51:791-793.
11. Bertini C, Maioli M, Fresu P, Tonolo G, Pirastu M. 1996. A new missense mutation in the glucokinase gene in an Italian Mody family. Diabetologia 39:1413-1414. (Pubitemid 26356081)
12. Bertram LS, Black D, Briner PH, Chatfield R, Cooke A, Fyfe MC, Murray PJ, Naud F, Nawano M, Procter MJ, Rakipovski G, Rasamison CM, Reynet C, Schofield KL, Shah VK, Spindler F, Taylor A, Turton R, Williams GM, Wong-Kai-In P, Yasuda K. 2008. SAR, pharmacokinetics, safety, and efficacy of glucokinase activating 2-(4-sulfonylphenyl)-N-thiazol-2-ylacetamides: discovery of PSNGK1. J Med Chem 51:4340-4345. (Pubitemid 352032459)
13. Bjorkhaug L, Molnes J, Sovik O, Njolstad PR, Flatmark T. 2007. Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation. J Biol Chem 282:22757-22764. (Pubitemid 47267331)
14. Boutin P, Vasseur F, Samson C, Wahl C, Froguel P. 2001. Routine mutation screening of HNF-1alpha and GCK genes in MODY diagnosis: how effective are the techniques of DHPLC and direct sequencing used in combination? Diabetologia 44:775-778.
15. Burke CV, Buettger CW, Davis EA, McClane SJ, Matschinsky FM, Raper SE. 1999. Cell-biological assessment of human glucokinase mutants causing maturityonset diabetes of the young type 2 (MODY-2) or glucokinase-linked hyperinsulinaemia (GK-HI). Biochem J 342(Pt 2):345-352.
16. Cao H, Shorey S, Robinson J, Metzger DL, Stewart L, Cummings E, Hegele RA. 2002. GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). Hum Mutat 20:478-479.
17. Cappelli A, Tumini S, Consoli A, Carinci S, Piersanti C, Ruggiero G, Simonella G, Soletti F, Staffolani P, Pianese L. 2009. Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. Diabetes Res Clin Pract 83:e72-e74.
18. Chiu KC, Tanizawa Y, Permutt MA. 1993. Glucokinase gene variants in the common form of NIDDM. Diabetes 42:579-582. (Pubitemid 23097190)
19. Christesen HB, Jacobsen BB, Odili S, Buettger C, Cuesta-Munoz A, Hansen T, Brusgaard K, Massa O, Magnuson MA, Shiota C, Matschinsky FM, Barbetti F. 2002. The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. Diabetes 51:1240-1246. (Pubitemid 34438375)
20. Christesen HB, Tribble ND, Molven A, Siddiqui J, Sandal T, Brusgaard K, Ellard S, Njolstad PR, Alm J, Brock Jacobsen B, Hussain K, Gloyn AL. 2008. Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. Eur J Endocrinol 159:27-34. (Pubitemid 351969127)
21. Codner E, Deng L, Perez-Bravo F, Roman R, Lanzano P, Cassorla F, Chung WK. 2006. Glucokinase mutations in young children with hyperglycaemia. Diabetes Metab Res Rev 22:348-355. (Pubitemid 44446429)
22. Codner E, Rocha A, Deng L, Martinez-Aguayo A, Godoy C, Mericq V, Chung WK. 2009. Mild fasting hyperglycaemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus. Pediatr Diabetes.
23. Cooper D, Krawczak M, Antonarakis S. 1995. The nature and mechanism of human gene mutations. In: Scriver CR, editor. The metabolic and molecular basis of inherited disease. New York: McGraw-Hill.
24. Costa A, Bescos M, Velho G, Chevre JC, Vidal J, Sesmilo G, Bellanne-Chantelot C, Froguel P, Casamitjana R, Fivera-Fillat F, Gomis R, Cognet I. 2000. Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families. Eur J Endocrinol 142:380-386. (Pubitemid 30230764)
25. Cuesta-Munoz AL, Huopio H, Otonkoski T, Gomez-Zumaquero JM, Nanto- Salonen K, Rahier J, Lopez-Enriquez S, Garcia-Gimeno MA, Sanz P, Soriguer FC, Laakso M. 2004. Severe persistent hyperinsulinaemic hypoglycaemia due to a de novo glucokinase mutation. Diabetes 53:2164-2168. (Pubitemid 38970771)
26. Danial NN, Gramm CF, Scorrano L, Zhang CY, Krauss S, Ranger AM, Datta SR, Greenberg ME, Licklider LJ, Lowell BB, Gygi SP, Korsmeyer SJ. 2003. BAD and glucokinase reside in a mitochondrial complex that integrates glycolysis and apoptosis. Nature 424:952-956. (Pubitemid 37051687)
27. Danial NN, Walensky LD, Zhang CY, Choi CS, Fisher JK, Molina AJ, Datta SR, Pitter KL, Bird GH, Wikstrom JD, Deeney JT, Robertson K, Morash J, Kulkarni A, Neschen S, Kim S, Greenberg ME, Corkey BE, Shirihai OS, Shulman GI, Lowell BB, Korsmeyer SJ. 2008. Dual role of proapoptotic BAD in insulin secretion and beta cell survival. Nat Med 14:144-153. (Pubitemid 351214557)
28. Davis EA, Cuesta-Munoz 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)
29. Dullaart RP, Hoogenberg K, Rouwe CW, Stulp BK. 2004. Family with autosomal dominant hyperinsulinism associated with A456V mutation in the glucokinase gene. J Intern Med 255:143-145. (Pubitemid 38121934)
30. Dussoix P, Vaxillaire M, Iynedjian PB, Tiercy JM, Ruiz J, Spinas GA, Berger W, Zahnd G, Froguel P, Philippe J. 1997. Diagnostic heterogeneity of diabetes in lean young adults: classification based on immunological and genetic parameters. Diabetes 46:622-631. (Pubitemid 27143378)
31. Edghill EL, Dix RJ, Flanagan SE, Bingley PJ, Hattersley AT, Ellard S, Gillespie KM. 2006. HLA genotyping supports a nonautoimmune aetiology in patients diagnosed with diabetes under the age of 6 months. Diabetes 55:1895-1898. (Pubitemid 44324150)
32. Efanov AM, Barrett DG, Brenner MB, Briggs SL, Delaunois A, Durbin JD, Giese U, Guo H, Radloff M, Gil GS, Sewing S, Wang Y, Weichert A, Zaliani A, Gromada J. 2005. A novel glucokinase activator modulates pancreatic islet and hepatocyte function. Endocrinology 146:3696-3701. (Pubitemid 41175734)
33. Ellard S, Beards F, Allen LIS, Shepherd M, Ballantyne E, Harvey R, Hattersley AT. 2000. A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia 43:250-253. (Pubitemid 30126833)
34. Ellard S, Bellanne-Chantelot C, Hattersley AT. 2008. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 51:546-553.
35. Ellard S, Shields B, Tysoe C, Treacy R, Yau S, Mattocks C, Wallace A. 2009. Semiautomated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting. Genetic Test Mol Biomarkers 13:1-6.
36. Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, Cropper J, Little J, Strachan M, Stride A, Ersoy B, Eiberg H, Pedersen O, Shepherd MH, Hansen T, Harries LW, Hattersley AT. 2007. Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia 50:2313-2317. (Pubitemid 47512403)
37. Estalella I, Garcia-Gimeno MA, Marina A, Castano L, Sanz P. 2008. Biochemical characterization of novel glucokinase mutations isolated from Spanish maturityonset diabetes of the young (MODY2) patients. J Hum Genet 53:460-466.
38. Estalella I, Rica I, Perez de Nanclares G, Bilbao JR, Vazquez JA, San Pedro JI, Busturia MA, Castano L. 2007. Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. Clin Endocrinol (Oxf) 67:538-546. (Pubitemid 47416311)
39. Feigerlova E, Pruhova S, Dittertova L, Lebl J, Pinterova D, Kolostova K, Cerna M, Pedersen O, Hansen T. 2006. Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. Eur J Pediatr 165:446-452. (Pubitemid 43800524)
40. Ferre T, Riu E, Franckhauser S, Agudo J, Bosch F. 2003. Long-term over expression of glucokinase in the liver of transgenic mice leads to insulin resistance. Diabetologia 46:1662-1668. (Pubitemid 38005328)
41. Frechtel GD, Lopez AP, Rodriguez M, Cerrone GE, Targovnik HM. 2003. A novel mutation in exon 5 of the glucokinase gene in an Argentinean family with maturity onset diabetes of the young. Mol Diagn 7:129-131. (Pubitemid 37414062)
42. Froguel P, Vaxillaire M, Sun F, Velho G, Zouali H, Butel MO, Lesage S, Vionnet N, Clement K, Fougerousse F, Tanizawa Y, Weissenbach J, Beckmann JS, Lathrop GM, Passa Ph, Permutt MA, Cohen D. 1992. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 356:162-164.
43. Froguel P, Velho G, Cohen D, Passa P. 1991. Strategies for the collection of siblingpair data for genetic studies in type 2 (non-insulin-dependent) diabetes mellitus [letter]. Diabetologia 34:685.
44. Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F, Lesage S, Stoffel M, Takeda J, Passa P, Permutt MA, Beckmann JS, Bell Gi, Cohen D. 1993. Familial hyperglycaemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. New Engl Jf Med 328:697-702.
45. Furuzawa GK, Giuffrida FM, Oliveira CS, Chacra AR, Dib SA, Reis AF. 2008. Low prevalence of MODY2 and MODY3 mutations in Brazilian individuals with clinical MODY phenotype. Diabetes Res Clin Pract 81:e12-e14.
46. Galan M, Vincent O, Roncero I, Azriel S, Boix-Pallares P, Delgado-Alvarez E, Diaz-Cadorniga F, Blazquez E, Navas MA. 2006. Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability. Biochem J 393(Pt 1):389-396. (Pubitemid 43049336)
47. Garcia-Herrero CM, Galan M, Vincent O, Flandez B, Gargallo M, Delgado-Alvarez E, Blazquez E, Navas MA. 2007. Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity. Diabetologia 50:325-333.
48. Garin I, Rica I, Estalella I, Oyarzabal M, Rodriguez-Rigual M, San Pedro JI, Perez-Nanclares G, Fernandez-Rebollo E, Busturia MA, Castano L, Pérez de Nanclares G, Spanish MODY Group. 2008. Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients. Clin Endocrinol (Oxf) 68:873-878. (Pubitemid 351703959)
49. Gasperikova D, Tribble N, Stanik J, Huckova M, Misovicova N, van de Bunt M, Valentinova L, Barrow B, Barak L, Dobransky R, Bereczková , E, Michálek J, Wicks K, Colclough K, Knight JC, Ellard S, Klimes I, Gloyn AL. 2009. Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) which modulates GCK gene expression through loss of allele specific Sp1 binding causing mild fasting hyperglycaemia. Diabetes. Published online 1 May 2009.
50. Gidh-Jain M, Takeda J, Xu LZ. 1993. Glucokinase mutations associated with noninsulin dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships. Proc Nat Acad Sci USA 90:1932-1936. (Pubitemid 23069971)
51. Gill Carey OJSB, Colclough K, Ellard S, Hattersley AT. 2007. Finding a glucokinase mutation alters treatment. Diabet Med 24(Suppl 1):6-7.
52. Glaser B, Kesavan P, Haymen M, Davies E, Cuesta A, Buchs A, Stanley CA, Thornton PS, Permutt MA, Matschinsky FM, and others. 1998. Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 338:226-230.
53. Glaser B, Thornton PS, Otonkoski T, Junien C. 2000. The genetics of neonatal hyperinsulinism. Arch Dis Childhood 82:79-86.
54. Gloyn AL, Odili S, Buettger C, Njolstad PR, Shiota C, Magnuson M, Matschinsky F. 2004. Glucokinase and the regulation of blood sugar: a mathematical model predicts the threshold for glucose stimulated insulin release for GCK gene mutations that cause hyper- and hypoglycaemia. In: Magnuson M, Matschinsky F, editors. Glucokinase and glycemic diseases: from the basics to novel therapeutics: Basel: Karger. p 92-109.
55. Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT. 2004b. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 350:1838-1849. (Pubitemid 38917250)
56. Gloyn AL, Ellard S. 2006. Defining the genetic aetiology of monogenic diabetes can improve treatment. Expert Opin Pharmacother 7:1759-1767.
57. Gloyn AL, Ellard S, Shield JP, Temple IK, Mackay DJ, Polak M, Barrett T, Hattersley AT. 2002. Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. Diabetologia 45:290.
58. Gloyn AL, Noordam K, Willemsen MA, Ellard S, Lam WW, Campbell IW, Midgley P, Shiota C, Buettger C, Magnuson MA, Matschinsky FM, Hattersley AT. 2003. Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycaemia mutations. Diabetes 52:2433-2440. (Pubitemid 37059517)
59. Gloyn AL, Odili S, Zelent D, Buettger C, Castleden HA, Steele AM, Stride A, Shiota C, Magnuson MA, Lorini R, d'Annunzio G, Stanley CA, Kwagh J, van Schaftingen E, Veiga-da-Cunha M, Barbetti F, Dunten P, Han Y, Grimsby J, Taub R, Ellard S, Hattersley AT, Matschinsky FM. 2005. Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young. J Biol Chem 280:14105-14113.
60. Gloyn AL, Tribble ND, van de Bunt M, Barrett A, Johnson PR. 2008. Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach. Biochem Soc Trans 36(Pt 3):306-311. (Pubitemid 351839321)
61. Gloyn AL, van de Bunt M, Stratton IM, Lonie L, Tucker L, Ellard S, Holman RR. 2009. Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia. Diabetologia 52:172-174.
62. Gorman T, Hope DC, Brownlie R, Yu A, Gill D, Lofvenmark J, Wedin M, Mayers RM, Snaith MR, Smith DM. 2008. Effect of high-fat diet on glucose homeostasis and gene expression in glucokinase knockout mice. Diabetes Obes Metab 10:885-897.
63. Gragnoli C, Cockburn BN, Chiaramonte F, Gorini A, Marietti G, Marozzi G, Signorini AM. 2001. Early-onset Type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor 1 alpha and glucokinase. Diabetologia 44:1326-1329. (Pubitemid 33010510)
64. Grimsby J, Berthel SJ, Sarabu R. 2008. Glucokinase activators for the potential treatment of type 2 diabetes. Curr Top Med Chem 8:1524-1532.
65. Grimsby J, Sarabu R, Corbett WL, Haynes NE, Bizzarro FT, Coffey JW, Guertin KR, Hilliard DW, Kester RF, Mahaney PE, Marcus L, Qi L, Spence CL, Tengi J, Magnuson MA, Chu CA, Dvorozniak MT, Matschinsky FM, Grippo JF. 2003. Allosteric activators of glucokinase: potential role in diabetes therapy. Science 301:370-373. (Pubitemid 36877072)
66. Grupe A, Hultgren B, Ryan A, Ma YH, Bauer M, Stewart TA. 1995. Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis. Cell 83:69-78.
67. Guazzarotti L, Fumelli P, Testa I, Pecora R, Panicari F, Bellanne-Chantelot C, Bartolotta E. 2001. Diagnosis of MODY in the offspring of parents with insulindependent and non-insulin-dependent diabetes mellitus. J Pediatr Endocrinol Metab 14(Suppl 1):611-617. (Pubitemid 32479510)
68. Guazzini B, Gaffi D, Mainieri D, Multari G, Cordera R, Bertolini S, Pozza G, Meschi F, Barbetti F. 1998. Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online. Hum Mutat 12:136.
69. Guenat E, Seematter G, Philippe J, Temler E, Jequier E, Tappy L. 2000. Counter regulatory responses to hypoglycaemia in patients with glucokinase gene mutations. Diabetes Metab 26:377-384.
70. Guertin KR, Grimsby J. 2006. Small molecule glucokinase activators as glucose lowering agents: a new paradigm for diabetes therapy. Curr Med Chem 13:1839-1843. (Pubitemid 43871760)
71. Hager J, Blanche H, Sun F, Vaxillaire NV, Poller W, Cohen D, Czernichow P, Velho G, Robert JJ, Cohen N, Frougel P. 1994. Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique. Diabetes 43:730-733. (Pubitemid 24138789)
72. Han XY, Ji LN. 2005. [Contribution of MODY2 gene to the pathogenesis of Chinese early onset familial type 2 diabetes]. Beijing Da Xue Xue Bao 37:591-594.
73. Hattersley AT, Beards F, Ballantyne E, Appleton M, Harvey R, Ellard S. 1998. Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet 19:268-270. (Pubitemid 28309340)
74. Hattersley AT, Turner RC, Permutt MA, Patel P, Tanizawa Y, Chiu KC, O'Rahilly S, Watkins PJ, Wainscoat JS. 1992. Linkage of type 2 diabetes to the glucokinase gene. Lancet 339:1307-1310.
75. Henderson M, Levy E, Delvin E, Losekoot M, Lambert M. 2007. Prevalence and clinical phenotype of the p.Val226Met glucokinase gene mutation in French Canadians in Quebec, Canada. Mol Genet Metab 90:87-92. (Pubitemid 44856296)
76. Heredia VV, Carlson TJ, Garcia E, Sun S. 2006a. Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations. J Biol Chem 281:40201-40207. (Pubitemid 46041825)
77. Heredia VV, Thomson J, Nettleton D, Sun S. 2006b. Glucose-induced conformational changes in glucokinase mediate allosteric regulation: transient kinetic analysis. Biochemistry 45:7553-7562. (Pubitemid 43894948)
78. Holmkvist J, Almgren P, Lyssenko V, Lindgren CM, Eriksson KF, Isomaa B, Tuomi T, Nilsson P, Groop L. 2008. Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes. Diabetes 57:1738-1744.
79. Huopio H, Otonkoski T, Vauhkonen I, Reimann F, Ashcroft F, Laakso M. 2003. A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for the sulphonylurea receptor 1. Lancet 361:301-307. (Pubitemid 36126191)
80. 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)
81. Iino T, Tsukahara D, Kamata K, Sasaki K, Ohyama S, Hosaka H, Hasegawa T, Chiba M, Nagata Y, Eiki J, Nishimura T. 2009. Discovery of potent and orally active 3-alkoxy-5-phenoxy-N-thiazolyl benzamides as novel allosteric glucokinase activators. Bioorg Med Chem 17:2733-2743.
82. Inoue M, Sakuraba Y, Motegi H, Kubota N, Toki H, Matsui J, Toyoda Y, Miwa I, Terauchi Y, Kadowaki T, Shigeyama Y, Kasuga M, Adachi T, Fujimoto N, Matsumoto R, Tsuchihashi K, Kagami T, Inoue A, Kaneda H, Ishijima J, Masuya H, Suzuki T, Wakana S, Gondo Y, Minowa O, Shiroishi T, Noda T. 2004. A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program. Hum Mol Genet 13:1147-1157. (Pubitemid 38786997)
83. Jackerott M, Baudry A, Bucchini D, Jami J, Joshi RL. 2002. Improved metabolic disorders of insulin receptor-deficient mice by transgenic over expression of glucokinase in the liver. Diabetologia 45:1292-1297.
84. Jetton TL, Liang Y, Pettepher CC, Zimmerman EC, Cox FG, Horvath K, Matschinsky FM, Magnuson MA. 1994. Analysis of upstream glucokinase promoter activity in transgenic mice and identification of glucokinase in rare neuroendocrine cells in the brain and gut. J Biol Chem 269:3641-3654. (Pubitemid 24237691)
85. Johansen A, Ek J, Mortensen HB, Pedersen O, Hansen T. 2005. Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1. J Clin Endocrinol Metab 90:4607-4614. (Pubitemid 41159350)
86. Kamata K, Mitsuya M, Nishimura T, Eiki J, Nagata Y. 2004. Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase. Structure 12:429-438. (Pubitemid 38353064)
87. Katagiri H, Asano T, Ishihara H, Inukai K, Anai M, Miyazaki J, Tsukuda K, Kikuchi M, Yazaki Y, Oka Y. 1992. Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus. Lancet 340:1316-1317.
88. Kesavan P, Wang L, Davis E, Cuesta A, Sweet I, Niswender K, Magnuson MA, Matschinsky FM. 1997. Structural instability of mutant beta-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2). Biochem J 322(Pt 1):57-63. (Pubitemid 27095522)
89. Kjos SL, Schaefer-Graf U, Sardesi S, Peters RK, Buley A, Xiang AH, Bryne JD, Sutherland C, Montoro MN, Buchanan TA. 2001. A randomized controlled trial using glycemic plus fetal ultrasound parameters versus glycemic parameters to determine insulin therapy in gestational diabetes with fasting hyperglycemia. Diabetes Care 24:1904-1910. (Pubitemid 33716499)
90. Knebel B, Jacob S, Boxberg CV, Muller-Wieland D, Kotzka J. 2004. A novel nonsense mutation in GCK exon 9 co-segregates with diabetes phenotype. Exp Clin Endocrinol Diabetes 112:298-301. (Pubitemid 38849839)
91. Kousta E, Ellard S, Allen LI, Saker PJ, Huxtable SJ, Hattersley AT, McCarthyMI. 2001. Glucokinase mutations in a phenotypically selected multiethnic group of women with a history of gestational diabetes. Diabet Med 18:683-684.
92. Lehto M, Wipemo C, Ivarsson S-A, Lindgren C, Lipsanen-Nyman M, Weng J, Wibell L, Widen E, Tuomi T, Groop L. 1999. High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial earlyonset diabetes. Diabetologia 42:1131-1137. (Pubitemid 29408812)
93. Liang Y, Najafi H, Smith RM, Zimmerman EC,MagnusonMA, TalM, Matschinsky FM. 1992. Concordant glucose induction of glucokinase, glucose usage, and glucosestimulated insulin release in pancreatic islets maintained in organ culture. Diabetes 41:792-806.
94. Lopez AP, Foscaldi SA, Perez MS, Krochik G, Rodriguez M, Traversa M, Puchulu FM, Hirschler V, Bergada I, Frechtel GD. 2009. Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients. Exp Clin Endocrinol Diabetes.
95. Lorini R, Klersy C, d'Annunzio G, Massa O, Minuto N, Iafusco D, Bellanne- Chantelot C, Frongia AP, Toni S, Meschi F, Cerutti F, Barbetti F, Study Group of Italian Society of Pediatric Endocrinologyand Diabetology (ISPED). 2009. Maturity-onset diabetes of the young (MODY) in children with incidental hyperglycemia A multicenter Italian Study on 172 families. Diabetes Care.
96. Losekoot M, Broekman AJ, Breuning MH, de Koning EJ, Romijn JA, Maassen JA. 2005. [Molecular diagnosis on indication of maturity onset diabetes of the young; results from 184 patients]. Ned Tijdschr Geneeskd 149:139-143.
97. Lukasova P, Vcelak J, Vankova M, Vejrazkova D, Andelova K, Bendlova B. 2008. Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations. Physiol Res 57(Suppl 1):S99-S108.
98. Lynedjian P. 1993. Mammalian glucokinase and its gene. Biochem J 293:1-13.
99. Magnuson M. 1990. Glucokinase gene structure: functional implications of molecular genetic studies. Diabetes 39:523-527. (Pubitemid 20223775)
100. 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)
101. Mantovani V, Salardi S, Cerreta V, Bastia D, Cenci M, Ragni L, Zucchini S, Parente R, Cicognani A. 2003. Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. Hum Mutat 22:338.
102. Maraschin JdeF, Kannengiesser C, Murussi N, Campagnolo N, Canani LH, Gross JL, Velho G, Grandchamp B, Silveiro SP. 2008. HNF1alpha mutations are present in half of clinically defined MODY patients in South-Brazilian individuals. Arq Bras Endocrinol Metabol 52:1326-1331.
103. Marotta DE, Anand GR, Anderson TA, Miller SP, Okar DA, Levitt DG, Lange AJ. 2005. Identification and characterization of the ATP-binding site in human pancreatic glucokinase. Arch Biochem Biophys 436:23-31.
104. Massa L, Baltrusch S, Okar DA, Lange AJ, Lenzen S, Tiedge M. 2004. Interaction of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFK-2/FBPase-2) with glucokinase activates glucose phosphorylation and glucose metabolism in insulin-producing cells. Diabetes 53:1020-1029.
105. Massa O, Meschi F, Cuesta-Munoz A, Caumo A, Cerutti F, Toni S, Cherubini V, Guazzarotti L, Sulli N, Matschinsky FM, and others. 2001. High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP). Diabetologia 44:898-905.
106. Matschinsky FM. 2002. Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics. Diabetes 51(Suppl 3):S394-S404.
107. Matschinsky FM. 2009. Assessing the potential of glucokinase activators in diabetes therapy. Nat Rev Drug Discov.
108. McKerrecher D, Allen JV, Caulkett PW, Donald CS, Fenwick ML, Grange E, Johnson KM, Johnstone C, Jones CD, Pike KG, Rayner JW, Walker RP. 2006. Design of a potent, soluble glucokinase activator with excellent in vivo efficacy. Bioorg Med Chem Lett 16:2705-2709.
109. McKinney JL, Cao H, Robinson JF, Metzger DL, Cummings E, Riddell DC, Sanderson SR, Pacaud D, Ho J, Hegele RA. 2004. Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). Clin Invest Med 27:135-141. (Pubitemid 39233774)
110. Meissner T, Marquard J, Cobo-Vuilleumier N, Maringa M, Rodriguez-Bada P, Garcia-Gimeno MA, Baixeras E, Weber J, Olek K, Sanz P, Mayatepek E, Cuesta-Muñoz AL. 2009. Diagnostic difficulties in glucokinase hyperinsulinism. Horm Metab Res 41:320-326.
111. Milenkovic T, Zdravkovic D, Mitrovic K. 2008. [Novel glucokinase mutation in a boy with maturity-onset diabetes of the young]. Srp Arh Celok Lek 136:542-544.
112. 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.
113. Moises RS, Reis AF, Morel V, Chacra AR, Dib SA, Bellanne-Chantelot C, Velho G. 2001. Prevalence of maturity-onset diabetes of the young mutations in Brazilian families with autosomal-dominant early-onset type 2 diabetes. Diabetes Care 24:786-788. (Pubitemid 32888869)
114. Murphy R, Tura A, Clark PM, Holst JJ, Mari A, Hattersley AT. 2009. Glucokinase, the pancreatic glucose sensor, is not the gut glucose sensor. Diabetologia 52:154-159.
115. Nakamura A, Terauchi Y, Ohyama S, Kubota J, Shimazaki H, Nambu T, Takamoto I, Kubota N, Eiki J, Yoshioka N, Kadowaki T, Koike T. 2009. Impact of small-molecule glucokinase activator on glucose metabolism and beta-cell mass. Endocrinology 150:1147-1154.
116. Nakamura M, House DV, Winter WE. 1996. Novel mutations in the glucokinase (GCK) genes of a patient with atypical diabetes mellitus (ADM) of African Americans. Diabetes 45(Suppl 2):77A.
117. Nam JH, Lee HC, Kim YH, Cha BS, Song YD, Lim SK, Kim KR, Huh KB. 2000. Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus. Diabetes Res Clin Pract 50:169-176.
118. Ng MC, Cockburn BN, Lindner TH, Yeung VT, Chow CC, So WY, Li JK, Lo YM, Lee ZS, Cockram CS, Critchley JA, Bell GI, Chan JC. 1999. Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY. Diabetic Med 16:956-963.
119. Ng MC, Lee SC, Ko GT, Li JK, So WY, Hashim Y, Barnett AH, Mackay IR, Critchley JA, Cockram CS, Chan JC. 2001. Familial early-onset type 2 diabetes in Chinese patients: obesity and genetics have more significant roles than autoimmunity. Diabetes Care 24:663-671. (Pubitemid 32888846)
120. Niswender KD, Shiota M, Postic C, Cherrington AD, Magnuson MA. 1997. Effects of increased glucokinase gene copy number on glucose homeostasis and hepatic glucose metabolism. J Biol Chem 272:22570-22575. (Pubitemid 27386069)
121. Njolstad PR, Cockburn BN, Bell GI, Sovik O. 1998. A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young. Acta Paediatr 87:853-856. (Pubitemid 28409062)
122. Njolstad PR, Sagen JV, Bjorkhaug L, Odili S, Shehadeh N, Bakry D, Sarici SU, Alpay F, Molnes J, Molven A, Søvik O, Matschinsky FM. 2003. Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signalling pathway. Diabetes 52:2854-2860. (Pubitemid 37339717)
123. Njolstad PR, Sovik O, Cuesta-Munoz A, Bjorkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI. 2001. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 344:1588-1592. (Pubitemid 32479911)
124. O'Doherty RM, Lehman DL, Telemaque-Potts S, Newgard CB. 1999. Metabolic impact of glucokinase over expression in liver: lowering of blood glucose in fed rats is accompanied by hyperlipidemia. Diabetes 48:2022-2027. (Pubitemid 29458366)
125. Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J, Hattersley AT. 2007. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med 4:e118. (Pubitemid 46658777)
126. Pearson ER, Flechtner I, Njolstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT, Neonatal Diabetes International Collaborative Group. 2006. Switching from insulin to oral sulphonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 355:467-477.
127. Pedelini L, Garcia-Gimeno MA, Marina A, Gomez-Zumaquero JM, Rodriguez-Bada P, Lopez-Enriquez S, Soriguer FC, Cuesta-Munoz AL, Sanz P. 2005. Structure-function analysis of the alpha5 and the alpha13 helices of human glucokinase: description of two novel activating mutations. Protein Sci 14:2080-2086. (Pubitemid 41132373)
128. Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA. 2008. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest 118:2877-2886.
129. Pino MF, Kim KA, Shelton KD, Lindner J, Odili S, Li C, Collins HW, Shiota M, Matschinsky FM, Magnuson MA. 2007. Glucokinase thermolability and hepatic regulatory protein binding are essential factors for predicting the blood glucose phenotype of missense mutations. J Biol Chem 282:13906-13916. (Pubitemid 47100526)
130. Pinterova D, Ek J, Kolostova K, Pruhova S, Novota P, Romzova M, Feigerlova E, Cerna M, Lebl J, Pedersen O, Pedersen O, Hansen T. 2007. Six novel mutations in the GCK gene in MODY patients. Clin Genet 71:95-96. (Pubitemid 44921629)
131. Plengvidhya N, Boonyasrisawat W, Chongjaroen N, Jungtrakoon P, Sriussadaporn S, Vannaseang S, Banchuin N, Yenchitsomanus PT. 2008. Mutations of maturityonset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. Clin Endocrinol (Oxf).
132. Porter JR, Shaw NJ, Barrett TG, Hattersley AT, Ellard S, Gloyn AL. 2005. Permanent neonatal diabetes in an Asian infant. J Pediatr 146:131-133. (Pubitemid 40091744)
133. Postic C, Shiota M, Niswender KD, Jetton TL, Chen Y, Moates JM, Shelton KD, Lindner J, Cherrington AD, Magnuson MA. 1999. Dual roles for glucokinase in glucose homeostasis as determined by liver and pancreatic beta cell-specific gene knock-outs using Cre recombinase. J Biol Chem 274:305-315. (Pubitemid 29035064)
134. Prokopenko I, Langenberg C, Florez JC, Saxena R, Soranzo N, Thorleifsson G, Loos RJ, Manning AK, Jackson AU, Aulchenko Y, Potter SC, Erdos MR, Sanna S, Hottenga JJ, Wheeler E, Kaakinen M, Lyssenko V, Chen WM, Ahmadi K, Beckmann JS, Bergman RN, Bochud M, Bonnycastle LL, Buchanan TA, Cao A, Cervino A, Coin L, Collins FS, Crisponi L, de Geus EJ, Dehghan A, Deloukas P, Doney AS, Elliott P, Freimer N, Gateva V, Herder C, Hofman A, Hughes TE, Hunt S, Illig T, Inouye M, Isomaa B, Johnson T, Kong A, Krestyaninova M, Kuusisto J, Laakso M, Lim N, Lindblad U, Lindgren CM, McCann OT, Mohlke KL, Morris AD, Naitza S, Orrù M, Palmer CN, Pouta A, Randall J, Rathmann W, Saramies J, Scheet P, Scott LJ, Scuteri A, Sharp S, Sijbrands E, Smit JH, Song K, Steinthorsdottir V, Stringham HM, Tuomi T, Tuomilehto J, Uitterlinden AG, Voight BF, Waterworth D, Wichmann HE, Willemsen G, Witteman JC, Yuan X, Zhao JH, Zeggini E, Schlessinger D, Sandhu M, Boomsma DI, Uda M, Spector TD, Penninx BW, Altshuler D, Vollenweider P, Jarvelin MR, Lakatta E, Waeber G, Fox CS, Peltonen L, Groop LC, Mooser V, Cupples LA, Thorsteinsdottir U, Boehnke M, Barroso I, Van Duijn C, Dupuis J, Watanabe RM, Stefansson K, McCarthy MI, Wareham NJ, Meigs JB, Abecasis GR. 2009. Variants in MTNR1B influence fasting glucose levels. Nat Genet 41:77-81.
135. Pruhova S, Ek J, Lebl J, Sumnik Z, Saudek F, Andel M, Pedersen O, Hansen T. 2003. Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. Diabetologia 46:291-295. (Pubitemid 36343895)
136. Rafiq M, Flanagan SE, Patch AM, Shields BM, Ellard S, Hattersley AT. 2008. Effective treatment with oral sulphonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care 31:204-209. (Pubitemid 351213320)
137. Rose CS, Ek J, Urhammer SA, Glumer C, Borch-Johnsen K, Jorgensen T, Pedersen O, Hansen T. 2005. A -30G>A polymorphism of the beta-cell-specific glucokinase promoter associates with hyperglycaemia in the general population of whites. Diabetes 54:3026-3031. (Pubitemid 41401103)
138. Rubio-Cabezas O, Diaz Gonzalez F, Aragones A, Argente J, Campos-Barros A. 2008. Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene. Pediatr Diabetes 9(3 Pt 1):245-249. (Pubitemid 351785012)
139. Sagen JV, Bjorkhaug L, Molnes J, Raeder H, Grevle L, Sovik O, Molven A, Njolstad PR. 2008. Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. Pediatr Diabetes 9:442-449.
140. Sagen JV, Odili S, Bjorkhaug L, Zelent D, Buettger C, Kwagh J, Stanley C, Dahl-Jorgensen K, de Beaufort C, Bell GI, Han Y, Grimsby J, Taub R, Molven A, Søvik O, Njølstad PR, Matschinsky FM. 2006. From clinicogenetic studies of maturity-onset diabetes of the young to unravelling complex mechanisms of glucokinase regulation. Diabetes 55:1713-1722. (Pubitemid 44324124)
141. Saker PJ, Hattersley AT, Barrow B, Hammersley MS, McLellan J-A, Lo Y-MD, Olds RJ, Gillmer MD, Holman RR, Turner RC. 1996. High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population. Diabetologia 39:1325-1328. (Pubitemid 26356061)
142. Sayed S, Langdon DR, Odili S, Chen P, Buettger C, Schiffman AB, Suchi M, Taub R, Grimsby J, Matschinsky FM, Stanley CA. 2009. Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism due to glucokinase activating mutations. Diabetes 58:1419-1427.
143. Sellner LN, Taylor GR. 2004. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 23:413-419.
144. Shaat N, Karlsson E, Lernmark A, Ivarsson S, Lynch K, Parikh H, Almgren P, Berntorp K, Groop L. 2006. Common variants in MODY genes increase the risk of gestational diabetes mellitus. Diabetologia 49:1545-1551. (Pubitemid 43848090)
145. Shehadeh N, Bakri D, Njolstad PR, Gershoni-Baruch R. 2005. Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). Diabet Med 22:994-998. (Pubitemid 41025994)
146. Shields BM, Spyer G, Slingerland AS, Knight BA, Ellard S, Clark PM, Hauguel-de Mouzon S, Hattersley AT. 2008. Mutations in the glucokinase gene of the fetus result in reduced placental weight. Diabetes Care 31:753-757.
147. Shimada F, Makino H, Hashimoto N, Taira M, Seino S, Bell GI, Kanatsuka A, Yoshida S. 1993. Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family. Diabetologia 36:433-437. (Pubitemid 23124048)
148. Shiota C, Coffey J, Grimsby J, Grippo JF, Magnuson MA. 1999. Nuclear import of hepatic glucokinase depends upon glucokinase regulatory protein, whereas export is due to a nuclear export signal sequence in glucokinase. J Biol Chem 274:37125-37130. (Pubitemid 30016787)
149. Singh R, Pearson ER, Clark PM, Hattersley AT. 2007. The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations. Diabetologia 50:620-624. (Pubitemid 46215506)
150. Slingerland AS, Shields BM, Flanagan SE, Bruining GJ, Noordam K, Gach A, Mlynarski W, Malecki MT, Hattersley AT, Ellard S. 2009. Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia.
151. Solera J, Arias P, Aminoso C, Gonzalez-Casado I, Garre P, Herranz L, Villarroel A, Cruz M, Janez M, Pallardo LF, Gracia R. 2009. Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population. Diabetes Res Clin Pract. DOI: 10.1016/j.diabres.2009.04.002.
152. Sorenson RL, Stout LE, Brelje TC, Jetton TL, Matschinsky FM. 2007. Immunohistochemical evidence for the presence of glucokinase in the gonadotropes and thyrotropes of the anterior pituitary gland of rat and monkey. J Histochem Cytochem 55:555-566.
153. Spyer G, Hattersley AT, Mitchell K, Ayres S, Amiel S, Macleod K. 2000. Is glucokinase the hypothalamic glucose sensor? Diabet Med 17(Suppl 1):A77.
154. Spyer G, Macleod KM, Shepherd M, Ellard S, Hattersley AT. 2009. Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation. Diabet Med 26:14-18.
155. Stoffel M, Bell K, Blackburn C. 1993. Identification of glucokinase mutations in subjects with gestational diabetes mellitus. Diabetes 42:937-940. (Pubitemid 23151590)
156. Stoffel M, Froguel P, Takeda J, Zouali H, Vionnet N, Nishi S, Weber IT, Harrison RW, Pilkis SJ, Lesage S, Vaxillaire M, Velho G, Sun F, Iris F, Passa P, Cohen D, Bell GI. 1992a. Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent. Proc Natl Acad Sci USA 89:7698-7702.
157. Stoffel M, Patel P, Lo YM, Hattersley AT, Lucassen AM, Page R, Bell JI, Bell GI, Turner RC, Wainscoat JS. 1992b. Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nature Genetics 2:153-156.
158. Stoy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI. Neonatal Diabetes International Collaborative Group. 2007. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci USA 104:15040-15044.
159. Stride A, Vaxillaire M, Tuomi T, Barbetti F, Njolstad PR, Hansen T, Costa A, Conget I, Pedersen O, Søvik O, Lorini R, Groop L, Froguel P, Hattersley AT. 2002. The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia 45:427-435. (Pubitemid 34267366)
160. Takeda J, Gidh-Jain M, Zhong Xu L, Froguel P, Velho G, Vaxillaire M, Cohen D, Shimada F, Makino H, Nishi S. 1993. Structure/function studies of human betacell glucokinase. J Biol Chem 20:15200-15204.
161. Terauchi Y, Sakura H, Yasuda K, Iwamoto K, Takahashi N, Ito K, Kasai H, Suzuki H, Ueda O, Kamada N, Jishage K, Komeda K, Noda M, Kanazawa Y, Taniguchi S, Miwa I, Akanuma Y, Kodama T, Yazaki Y, Kadowaki T. 1995. Pancreatic beta-cell- specific targeted disruption of glucokinase gene. Diabetes mellitus due to defective insulin secretion to glucose. J Biol Chem 270:30253-30256. (Pubitemid 3022816)
162. Terauchi Y, Takamoto I, Kubota N, Matsui J, Suzuki R, Komeda K, Hara A, Toyoda Y, Miwa I, Aizawa S, Tsutsumi S, Tsubamoto Y, Hashimoto S, Eto K, Nakamura A, Noda M, Tobe K, Aburatani H, Nagai R, Kadowaki T. 2007. Glucokinase and IRS-2 are required for compensatory beta cell hyperplasia in response to high-fat diet-induced insulin resistance. J Clin Invest 117:246-257. (Pubitemid 46048470)
163. Thomson KL, Gloyn AL, Colclough K, Batten M, Allen LI, Beards F, Hattersley AT, Ellard S. 2003. Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY). Hum Mutat 22:417.
164. Tinto N, Zagari A, Capuano M, De Simone A, Capobianco V, Daniele G, Giugliano M, Spadaro R, Franzese A, Sacchetti L. 2008. Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy. PLoS ONE 3:e1870. (Pubitemid 351943831)
165. Toaima D, Nake A, Wendenburg J, Praedicow K, Rohayem J, Engel K, Galler A, Gahr M, Lee-Kirsch MA. 2005. Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY). Hum Mutat 25:503-504.
166. Touati G, Poggi-Travert F, Ogier de Baulny H, Rahier J, Brunelle F, Nihoul-Fekete C, Czernichow P, Saudubray JM. 1998. Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria. Eur J Pediatr 157:628-633. (Pubitemid 28381178)
167. Toye AA, Moir L, Hugill A, Bentley L, Quarterman J, Mijat V, Hough T, Goldsworthy M, Haynes A, Hunter AJ, Browne M, Spurr N, Cox RD. 2004. A new mouse model of type 2 diabetes, produced by N-ethyl-nitrosourea mutagenesis, is the result of a missense mutation in the glucokinase gene. Diabetes 53:1577-1583. (Pubitemid 38697672)
168. Turkkahraman D, Bircan I, Tribble ND, Akcurin S, Ellard S, Gloyn AL. 2008. Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. J Pediatr 153:122-126.
169. van de Bunt M, Edghill EL, Hussain K, Ellard S, Gloyn AL. 2008. Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans. Mol Genet Metab 94:268-269.
170. van Schaftingen E, Viega da Cunha M. 2004. Discovery and role of glucokinase regulatory protein. In: Matschinsky FM, Magnuson MA, editors. Glucokinase and glycemic disease: from basics to novel therapeutics. Basel: Karger, p 193-207.
171. Vaxillaire M, Samson C, Cave H, Metz C, Froguel P, Polak M. 2002. Glucokinase gene mutations are not a common cause of permanent neonatal diabetes in France. Diabetologia 45:454-455. (Pubitemid 34267372)
172. Velho G, Blanche H, Vaxillaire M, Bellanne-Chantelot C, Pardini VC, Timsit J, Passa P, Robert JJ, Weber IT, Marotta D, Pilkis SJ, Lipkind GM, Bell GI, Froguel P. 1997. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 40:217-224. (Pubitemid 27060296)
173. Velho G, Petersen KF, Pereseghin G, Hwang JH, Rothman DL, Pueyo ME, Cline GW, Froguel P, Shulman GI. 1996. Impaired hepatic glycogen-synthesis in glucokinase-deficient (MODY2) subjects. J Clin Invest 98:1755-1761. (Pubitemid 26359191)
174. Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H, Lesage S, Velho G, Iris F, Passa P, and others. 1992. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature 356:721-722.
175. Vits L, Beckers D, Craen M, de Beaufort C, Vanfleteren E, Dahan K, Nollet A, Vanhaverbeke G, Imschoot SV, Bourguignon JP, Beauloye V, Storm K, Massa G, Giri M, Nobels F, De Schepper J, Rooman R, Van den Bruel A, Mathieu C, Wuyts W. 2006. Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. Clin Genet 70:355-359. (Pubitemid 44323403)
176. Wabitsch M, Lahr G, Van de Bunt M, Marchant C, Lindner M, von Puttkamer J, Fenneberg A, Debatin KM, Klein R, Ellard S, Clark A, Gloyn AL. 2007. Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy. Diabet Med 24:1393-1399. (Pubitemid 350179438)
177. Weedon MN, Clark VJ, Qian Y, Ben-Shlomo Y, Timpson N, Ebrahim S, Lawlor DA, Pembrey ME, Ring S, Wilkin TJ, Voss LD, Jeffery AN, Metcalf B, Ferrucci L, Corsi AM, Murray A, Melzer D, Knight B, Shields B, Smith GD, Hattersley AT, Di Rienzo A, Frayling TM. 2006. A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and populationgenetics analyses. Am J Hum Genet 79:991-1001. (Pubitemid 44853472)
178. Weedon MN, Frayling TM, Shields B, Knight B, Turner T, Metcalf BS, Voss L, Wilkin TJ, McCarthy A, Ben-Shlomo Y, Davey Smith G, Ring S, Jones R, Golding J, Byberg L, Mann V, Axelsson T, Syvänen AC, Leon D, Hattersley AT. 2005. Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene. Diabetes 54:576-581.
179. Xu JY, Dan QH, Chan V, Wat NM, Tam S, Tiu SC, Lee KF, Siu SC, Tsang MW, Fung LM, Chan KW, Lam KS. 2005. Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients. Eur J Hum Genet 13:422-427. (Pubitemid 40520932)
180. Zelent B, Odili S, Buettger C, Shiota C, Grimsby J, Taub R, Magnuson MA, Vanderkooi JM, Matschinsky FM. 2008. Sugar binding to recombinant wild-type and mutant glucokinase monitored by kinetic measurement and tryptophan fluorescence. Biochem J 413:269-280.
181. Zelent D, Golson ML, Koeberlein B, Quintens R, van Lommel L, Buettger C, Weik-Collins H, Taub R, Grimsby J, Schuit F, Kaestner KH, Matschinsky FM. 2006. A glucose sensor role for glucokinase in anterior pituitary cells. Diabetes 55:1923-1929. (Pubitemid 44509963)
182. Zheng TS, Wu SH, Yang Z, Lu HJ, Xiang KS. 2005. [Mutation screening of GCK gene in Chinese early-onset diabetes population]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:671-674.
183. Ziemssen FB-CC, Osterhoff M, Schatz H, Pfeiffer AF. 2002. To: Linder T, Cockburn BN, Bell GI. (1999). Molecular genetics of MODY in Germany. Diabetologia 42:121-123.
184. Zouali H, Vaxillaire M, Lesage S, Sun F, Velho G, Vionnet N, Chiu K, Passa P, Permutt A, Demenais F, Cohen D, Beckmann JS, Froguel P. 1993. Linkage analysis and molecular scanning of glucokinase gene in NIDDM families. Diabetes 42:1238-1245. (Pubitemid 23259842)
185. Zurawek M, Wender-Ozegowska E, Januszkiewicz-Lewandowska D, Zawiejska A, Nowak J. 2007. GCK and HNF1alpha mutations and polymorphisms in Polish women with gestational diabetes. Diabetes Res Clin Pract 76:157-158. (Pubitemid 46240363)