A L Gloyn

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. pmc Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk
    M G Rees
    Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford, OX3 7LJ, UK
    Diabetologia 55:114-22. 2012
  2. pmc Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism
    Sara G I Suliman
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, U K
    Diabetes 58:2954-61. 2009
  3. pmc The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver
    Nicola L Beer
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
    Hum Mol Genet 18:4081-8. 2009
  4. pmc Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans
    Daniela Gasperikova
    DIABGENE and Diabetes Laboratory, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovak Republic
    Diabetes 58:1929-35. 2009
  5. pmc Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia
    Lucia Valentínová
    Institute of Experimental Endocrinology, Slovak Academy of Science, Bratislava, Slovakia
    PLoS ONE 7:e34541. 2012
  6. pmc Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes
    Bahram Jafar-Mohammadi
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    PLoS ONE 4:e6615. 2009
  7. pmc Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets
    Mary E Travers
    Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 62:987-92. 2013
  8. pmc Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis
    Nicola L Beer
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes Care 35:1482-4. 2012
  9. pmc Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans
    Martijn van de Bunt
    Mol Genet Metab 94:268-9. 2008
  10. ncbi request reprint Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism
    Anna L Gloyn
    Diabetes Research Laboratories, Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom
    Hum Mutat 27:220-31. 2006

Detail Information

Publications48

  1. pmc Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk
    M G Rees
    Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford, OX3 7LJ, UK
    Diabetologia 55:114-22. 2012
    ..As GCK inhibition is associated with nuclear sequestration, we aimed to determine whether this variant also alters the direct interaction between GKRP and GCK and their intracellular localisation...
  2. pmc Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism
    Sara G I Suliman
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, U K
    Diabetes 58:2954-61. 2009
    ..Chromosome translocations present a unique opportunity to identify modifying loci; therefore, our objective was to determine the mutational mechanism resulting in this complex phenotype...
  3. pmc The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver
    Nicola L Beer
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
    Hum Mol Genet 18:4081-8. 2009
    ....
  4. pmc Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans
    Daniela Gasperikova
    DIABGENE and Diabetes Laboratory, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovak Republic
    Diabetes 58:1929-35. 2009
    ..We hypothesized that the GCK beta-cell promoter region, which currently is not routinely screened, could contain pathogenic mutations; therefore, we sequenced this region in 60 such probands...
  5. pmc Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia
    Lucia Valentínová
    Institute of Experimental Endocrinology, Slovak Academy of Science, Bratislava, Slovakia
    PLoS ONE 7:e34541. 2012
    ..In conclusion, we have identified 22 GCK mutations in 36 Slovakian probands and demonstrate that combining family, bioinformatic and functional studies can aid the interpretation of variants identified by molecular diagnostic screening...
  6. pmc Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes
    Bahram Jafar-Mohammadi
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    PLoS ONE 4:e6615. 2009
    ....
  7. pmc Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets
    Mary E Travers
    Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 62:987-92. 2013
    ....
  8. pmc Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis
    Nicola L Beer
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes Care 35:1482-4. 2012
    ..To demonstrate the importance of using a combined genetic and functional approach to correctly interpret a genetic test for monogenic diabetes...
  9. pmc Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans
    Martijn van de Bunt
    Mol Genet Metab 94:268-9. 2008
  10. ncbi request reprint Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism
    Anna L Gloyn
    Diabetes Research Laboratories, Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom
    Hum Mutat 27:220-31. 2006
    ..This review focuses on reported mutations in both genes, the spectrum of phenotypes, and the implications for treatment when patients are diagnosed with mutations in these genes...
  11. ncbi request reprint KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
    Anna L Gloyn
    Diabetes Research Laboratories, Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, UK
    Eur J Hum Genet 14:824-30. 2006
    ..The severe DEND syndrome was seen with the novel C166F mutation and mild developmental delay with the V59M mutation. These features differ markedly from the neurological consequences of acute or chronic diabetes...
  12. doi request reprint Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach
    Anna L Gloyn
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK
    Biochem Soc Trans 36:306-11. 2008
    ..Current results indicate the importance of these genes in pancreatic development and suggest that mutations which result in a severe functional defect could be lethal...
  13. ncbi request reprint Genetics: how the UKPDS contributed to determining the genetic landscape of Type 2 diabetes
    A L Gloyn
    Diabetes Research Laboratories, Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, UK
    Diabet Med 25:35-40. 2008
    ..Both of these concepts were explored in the early work of the UK Prospective Diabetes Study (UKPDS) genetics research groups...
  14. ncbi request reprint Defining the genetic aetiology of monogenic diabetes can improve treatment
    Anna L Gloyn
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK
    Expert Opin Pharmacother 7:1759-67. 2006
    ..Molecular genetic testing is an essential prerequisite for the pharmacogenetic treatment of monogenic diabetes...
  15. ncbi request reprint Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53)
    A L Gloyn
    Diabetes Research Laboratories, Nuffield Department of Clinical Medicine, University of Oxford, Radcliffe Infirmary, Oxford, UK
    Diabet Med 18:206-12. 2001
    ..Secondly, novel and previously described variants associated with Type 2 diabetes (SUR1 exon 16-3t, exon 18 T, and Kir6.2 E23K) were investigated in the UKPDS cohort...
  16. doi request reprint RD Lawrence Lecture 2009. Old genes, new tricks: learning about blood glucose regulation from naturally occurring genetic variation in humans
    A L Gloyn
    Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabet Med 26:1083-9. 2009
    ..It is possible that parallels can be drawn from functional work on rare regulatory mutations causing monogenic forms of diabetes. However, it is more likely that comprehensive approaches will be necessary...
  17. ncbi request reprint A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes
    G Thanabalasingham
    Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford, OX3 7LJ, UK
    Diabetologia 54:2801-10. 2011
    ..In this large multi-centre study we aimed to assess the clinical validity of hsCRP as a diagnostic biomarker, examine the genotype-phenotype relationship and compare different hsCRP assays...
  18. ncbi request reprint Apolipoprotein M can discriminate HNF1A-MODY from Type 1 diabetes
    S A Mughal
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabet Med 30:246-50. 2013
    ..However, subsequent human studies examining apoM as a biomarker have yielded conflicting results. We aimed to evaluate apoM as a biomarker for HNF1A-MODY using a highly specific and sensitive ELISA...
  19. doi request reprint Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka
    P Katulanda
    Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, UK, and Faculty of Medicine, University of Columbo, Sri Lanka
    Diabet Med 25:370-4. 2008
    ..We aimed to determine the prevalence and clinical characteristics of MIDD in a large South Asian cohort of young adult-onset diabetic patients from Sri Lanka...
  20. pmc Global microRNA expression profiles in insulin target tissues in a spontaneous rat model of type 2 diabetes
    B M Herrera
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Diabetologia 53:1099-109. 2010
    ..To investigate the relationship between microRNA expression and type 2 diabetes, we compared global microRNA expression in insulin target tissues from three inbred rat strains that differ in diabetes susceptibility...
  21. pmc A role for coding functional variants in HNF4A in type 2 diabetes susceptibility
    B Jafar-Mohammadi
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, UK
    Diabetologia 54:111-9. 2011
    ..We aimed to evaluate the contribution of these variants to type 2 diabetes susceptibility through large-scale association analysis...
  22. ncbi request reprint Human calcium/calmodulin-dependent protein kinase II gamma gene (CAMK2G): cloning, genomic structure and detection of variants in subjects with type II diabetes
    A L Gloyn
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetologia 45:580-3. 2002
    ..We therefore investigated the gene encoding the gamma isoform ( CAMK2G) which has been shown to be expressed in human beta cells as a candidate gene for Type II (non-insulin-dependent) diabetes mellitus...
  23. ncbi request reprint A tale of two glucose transporters: how GLUT2 re-emerged as a contender for glucose transport into the human beta cell
    M Van de Bunt
    Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK
    Diabetologia 55:2312-5. 2012
    ..This finding should encourage efforts to delineate the precise role of GLUT2 in the human beta cell at different developmental time points and is a further reminder of critical differences between human and rodent islets...
  24. ncbi request reprint Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation
    Henrik B T Christesen
    HC Andersen Children s Hospital, Odense University Hospital, DK 5000 Odense C, Denmark
    Eur J Endocrinol 159:27-34. 2008
    ..Activating glucokinase (GCK) mutations are a rarely reported cause of congenital hyperinsulinism (CHI), but the prevalence of GCK mutations is not known...
  25. ncbi request reprint Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients
    Martine Vaxillaire
    Centre National de la Recherche Scientifique UMR 8090, Institut of Biology and Pasteur Institute, Lille, France
    Diabetes 53:2719-22. 2004
    ..2 is associated with in utero insulin secretory insufficiency and growth retardation. In conclusion, we confirmed that Kir6.2 mutations are a common cause (53%) of PND in Caucasians...
  26. ncbi request reprint Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy
    Doga Turkkahraman
    From the Department of Pediatric Endocrinology, Akdeniz University Hospital, Antalya, Turkey
    J Pediatr 153:122-6. 2008
    ..To evaluate the clinical response to sulphonylurea treatment in a child with a homozygous T168A GCK (glucokinase) mutation, causing permanent neonatal diabetes mellitus (PNDM)...
  27. ncbi request reprint Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
    Sarah E Flanagan
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes 56:1930-7. 2007
    ..Remitting neonatal diabetes was observed in two of three mutation carriers, and permanent diabetes occurred after 6 months of age in subjects without an initial diagnosis of neonatal diabetes...
  28. ncbi request reprint Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years
    Emma L Edghill
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5AX, UK
    Diabetes 53:2998-3001. 2004
    ..Although activating KCNJ11 mutations are rare in patients diagnosed with type 1 diabetes, the identification of a KCNJ11 mutation may have important treatment implications...
  29. ncbi request reprint Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy
    Anna L Gloyn
    Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK
    Hum Mutat 22:353-62. 2003
    ..The identification of a GCK mutation in hyper- and hypoglycemia has implications for the clinical course and clinical management of the disorder...
  30. ncbi request reprint Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
    Anna L Gloyn
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
    N Engl J Med 350:1838-49. 2004
    ..2 subunit of this channel (KCNJ11) cause neonatal diabetes...
  31. ncbi request reprint Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel
    Anna L Gloyn
    Diabetes and Vascular Medicine, Peninsula Medical School, Exeter EX2 5AX, United Kingdom
    J Clin Endocrinol Metab 89:3932-5. 2004
    ..The possibility of germline mosaicism should be considered when counseling recurrence risks for the parents of a child with an apparently de novo KCNJ11 activating mutation...
  32. ncbi request reprint Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy
    Jørn V Sagen
    Section of Pediatrics, Department of Clinical Medicine, University of Bergen, N 5021 Bergen, Norway
    Diabetes 53:2713-8. 2004
    ..2 may be managed on an oral sulfonylurea with sustained metabolic control rather than insulin injections, illustrating the principle of pharmacogenetics applied in diabetes treatment...
  33. ncbi request reprint Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene
    Anna L Gloyn
    Department of Diabetes and Vascular Medicine, School of Postgraduate Medical and Health Sciences, University of Exeter, Barrack Road, Exeter EX2 5AX, U K
    Diabetes 51:2329-33. 2002
    ..This is the first case of MODY due to a balanced translocation, and it provides evidence to confirm the crucial role of an upstream regulator of HNF4A gene expression in the beta-cell...
  34. ncbi request reprint Mutations in PTF1A cause pancreatic and cerebellar agenesis
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK
    Nat Genet 36:1301-5. 2004
    ..The essential role of PTF1A in normal cerebellar development was confirmed by detailed neuropathological analysis of Ptf1a(-/-) mice...
  35. ncbi request reprint KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
    Ornella Massa
    Laboratory of Molecular Endocrinology and Metabolism, The Diabetes Unit, and the Scientific Directorate, Bambino Gesu Pediatric Hospital, Scientific Institute IRCCS, Rome, Italy
    Hum Mutat 25:22-7. 2005
    ..g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion between patients with early-onset, autoimmune type 1 diabetes...
  36. pmc Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features
    Peter Proks
    University Laboratory of Physiology, Oxford University, Oxford OX1 3PT, United Kingdom
    Proc Natl Acad Sci U S A 101:17539-44. 2004
    ..2 (V59G) influence the channel kinetics, providing evidence that this domain is involved in Kir channel gating, and suggest that the efficacy of sulfonylurea therapy in PNDM may vary with genotype...
  37. ncbi request reprint Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young
    Anna L Gloyn
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, United Kingdom
    J Biol Chem 280:14105-13. 2005
    ..Elucidating such mechanisms leads to a deeper understanding of the GCK glucose sensor and the biochemistry of beta-cells and hepatocytes...
  38. ncbi request reprint Relapsing diabetes can result from moderately activating mutations in KCNJ11
    Anna L Gloyn
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5DW, USA
    Hum Mol Genet 14:925-34. 2005
    ..This suggests that a fixed ion channel abnormality can result in a fluctuating glycaemic phenotype. The multiple phenotypes associated with activating KCNJ11 mutations may reflect their severity in vitro...
  39. pmc A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome
    Peter Proks
    University Laboratory of Physiology, Oxford University, Oxford OX1 3PT, UK
    EMBO Rep 6:470-5. 2005
    ..The results implicate a new region in Kir-channel gating and suggest that disease severity is correlated with the extent of reduction in ATP sensitivity...
  40. ncbi request reprint Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach
    Anna L Gloyn
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, UK
    Diabetes 55:2272-6. 2006
    ..Using a study sufficiently powered to detect odds ratios of <1.2, we conclude that common variation in the TNDM region does not play an important role in the genetic susceptibility to type 2 diabetes...
  41. ncbi request reprint Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings
    Emma L Edghill
    Department of Molecular Genetics, Royal Devon and Exeter National Health Service Foundation Trust, Barrack Road, Exeter, United Kingdom
    J Clin Endocrinol Metab 92:1773-7. 2007
    ..2 subunit of the pancreatic beta-cell K(ATP) channel, result in permanent and transient neonatal diabetes. The majority of KCNJ11 mutations are spontaneous, but the parental origin of these mutations is not known...
  42. ncbi request reprint Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels
    Thomas M Barber
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, UK
    Eur J Hum Genet 15:679-84. 2007
    ..In conclusion, these data (involving >4600 subjects) provide no evidence that common variants of the KCNJ11 E23K polymorphism have a major influence on PCOS susceptibility, though modest effect sizes (OR<1.25) cannot be excluded...
  43. ncbi request reprint Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
    Anna L Gloyn
    Centre for Molecular Genetics, Peninsula Medical School, Exeter, UK
    Diabetes 52:568-72. 2003
    ..000002); but the ABCC8 variants were not associated. Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles...
  44. ncbi request reprint A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations
    Timothy M Frayling
    Department of Diabetes and Vascular Medicine, University of Exeter, Barrack Road, Exeter EX2 5AX, U K
    Diabetes 51:2313-6. 2002
    ..66). There was no association with measures of fetal growth, including birth weight (P = 0.17). Our results do not support the previous associations and suggest that the promoter microsatellite is unlikely to be functionally important...
  45. ncbi request reprint Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations
    Anna L Gloyn
    Department of Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK
    Diabetes 52:2433-40. 2003
    ..In vitro studies confirm the validity of structural and functional models of GCK and the putative allosteric activator site, which is a potential drug target for the treatment of type 2 diabetes...
  46. ncbi request reprint The search for type 2 diabetes genes
    Anna L Gloyn
    Department of Diabetes and Vascular Medicine, Peninsular Medical School, Barrack Road, Exeter EX2 5AX, UK
    Ageing Res Rev 2:111-27. 2003
    ..This review focuses on the main approaches currently adopted and our current understanding of the genes involved in susceptibility to type 2 diabetes...
  47. ncbi request reprint Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity
    Catherine Arden
    Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK
    Diabetes 56:1773-82. 2007
    ..These results suggest that cellular loss of GK catalytic activity rather than impaired translation or enhanced protein degradation may account for the hyperglycemia in subjects with V62M and G72R mutations...
  48. ncbi request reprint The role of the HNF4alpha enhancer in type 2 diabetes
    Simon M S Mitchell
    Department of Diabetes and Vascular Medicine, University of Exeter, Barrack Road, EX2 5DW, UK
    Mol Genet Metab 76:148-51. 2002
    ..No variants of the enhancer element were found in this population. We conclude that variation in the HNF4alpha enhancer element is not a common cause of susceptibility to type 2 diabetes...