Pancreatic Beta-cell Apoptosis in Maturity Onset Diabetes of the Young

Fajans, 2001, Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young, N Engl J Med., 345, 971, 10.1056/NEJMra002168 Mitchell, 2002, The role of transcription factors in maturity-onset diabetes of the young, Mol Genet Metab., 77, 35, 10.1016/S1096-7192(02)00150-6 Froguel, 1993, Familial hyperglycemia due to mutations in glucokinase, Definition of a subtype of diabetes mellitus. NEngl J Med., 328, 697 Shih, 2002, Profound defects in pancreatic beta-cell function in mice with combined heterozygous mutations in Pdx-1, Hnf-1alpha, and Hnf-3beta, Proc Natl Acad Sci U S A., 99, 3818, 10.1073/pnas.062605899 Wobser, 2002, Dominant-negative suppression of HNF-1 alpha results in mitochondrial dysfunction, INS-1 cell apoptosis, and increased sensitivity to ceramide-, but not to high glucose-induced cell death, J Biol Chem., 277, 6413, 10.1074/jbc.M108390200 Yamagata, 2002, Overexpression of dominant-negative mutant hepatocyte nuclear factor-1 alpha in pancreatic beta-cells causes abnormal islet architecture with decreased expression of E-cadherin, reduced beta-cell proliferation, and diabetes, Diabetes., 51, 114, 10.2337/diabetes.51.1.114 Wang, 2000, Molecular targets of a human HNF1 alpha mutation responsible for pancreatic beta-cell dysfunction, EMBO J., 19, 4257, 10.1093/emboj/19.16.4257 Navas, 1999, Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q), Diabetes., 48, 1459, 10.2337/diabetes.48.7.1459 Taylor, 1996, Characterization of a dominant negative mutant form of the HNF-4 orphan receptor, Nucleic Acids Res., 24, 2930, 10.1093/nar/24.15.2930 Chakrabarti, 2003, Transcription factors direct the development and function of pancreatic beta cells, Trends Endocrinol Metab., 14, 78, 10.1016/S1043-2760(02)00039-5 Edlund, 2002, Pancreatic organogenesis—developmental mechanisms and implications for therapy, Nat Rev Genet., 3, 524, 10.1038/nrg841 Alonso, 2002, Hox proteins: sculpting body parts by activating localized cell death, Curr Biol., 12, R776, 10.1016/S0960-9822(02)01291-5 Duncan, 1998, Regulation of a transcription factor network required for differentiation and metabolism, Science., 281, 692, 10.1126/science.281.5377.692 Shih, 2001, Dissecting the transcriptional network of pancreatic islets during development and differentiation, Proc Natl Acad Sci U S A., 98, 14189, 10.1073/pnas.251558998 Shih, 2001, Loss of HNF-1alpha function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism, Diabetes., 50, 2472, 10.2337/diabetes.50.11.2472 Brissova, 2002, Reduction in pancreatic transcription factor PDX-1 impairs glucose-stimulated insulin secretion, J Biol Chem, 277, 11225, 10.1074/jbc.M111272200 Johnson, 2003, Increased islet apoptosis in Pdx1+/− mice, J Clin Invest., 111, 1147, 10.1172/JCI200316537 Pontoglio, 1998, Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice, J Clin Invest., 101, 2215, 10.1172/JCI2548 Tronche, 1992, HNF1, a homeoprotein member of the hepatic transcription regulatory network, Bioessays., 14, 579, 10.1002/bies.950140902 Haumaitre, 2005, Lack of TCF2/ vHNF1 in mice leads to pancreas agenesis, Proc Natl Acad Sci USA, 102, 1490, 10.1073/pnas.0405776102 Dhe-Paganon, 2002, Crystal structure of the HNF4 alpha ligand binding domain in complex with endogenous fatty acid ligand, J Biol Chem., 277, 37973, 10.1074/jbc.C200420200 Odom, 2004, Control of pancreas and liver gene expression by HNF transcription factors, Science., 303, 1378, 10.1126/science.1089769 Wang, 2000, Hepatocyte nuclear factor 4alpha regulates the expression of pancreatic beta-cell genes implicated in glucose metabolism and nutrient-induced insulin secretion, J Biol Chem., 275, 35953, 10.1074/jbc.M006612200 Stoffel, 1997, The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism, Proc Natl Acad Sci U S A., 94, 13209, 10.1073/pnas.94.24.13209 Shih, 2000, Genotype/phenotype relationships in HNF-4alpha/MODY1: haploinsufficiency is associated with reduced apolipoprotein (AII), apolipoprotein (CIII), lipoprotein(a), and triglyceride levels, Diabetes., 49, 832, 10.2337/diabetes.49.5.832 Glick, 2000, Transcription factor BETA2 acts cooperatively with E2A and PDX1 to activate the insulin gene promoter, J Biol Chem., 275, 2199, 10.1074/jbc.275.3.2199 Moates, 2003, BETA2 activates transcription from the upstream glucokinase gene promoter in islet beta-cells and gut endocrine cells, Diabetes., 52, 403, 10.2337/diabetes.52.2.403 Dumonteil, 1998, Differential regulation of the glucagon and insulin I gene promoters by the basic helix- loop-helix transcription factors E47 and BETA2, J Biol Chem., 273, 19945, 10.1074/jbc.273.32.19945 Huang, 2002, Neogenesis of beta-cells in adult BETA2/NeuroD-deficient mice, Mol Endocrinol., 16, 541, 10.1210/me.16.3.541 McKinnon, 2001, Pancreatic duodenal homeobox- 1, PDX-1, a major regulator of beta cell identity and function, Diabetologia., 44, 1203, 10.1007/s001250100628 Ahlgren, 1998, Beta-cell-specific inac- tivation of the mouse Ipf1/Pdx1 gene results in loss of the beta-cell phenotype and maturity onset diabetes, Genes Dev., 12, 1763, 10.1101/gad.12.12.1763 Johnson, 2006, Insulin protects islets from apoptosis via Pdx1 and specific changes in the human islet proteome, Proc Natl Acad Sci U S A., 103, 19575, 10.1073/pnas.0604208103 Lee, 2002, Foxa2 controls Pdx1 gene expression in pancreatic beta-cells in vivo, Diabetes., 51, 2546, 10.2337/diabetes.51.8.2546 Myat, 2000, Fork head prevents apoptosis and promotes cell shape change during formation of the Drosophila salivary glands, Development., 127, 4217, 10.1242/dev.127.19.4217 Ueki, 2006, Total insulin and IGF-I resistance in pancreatic beta cells causes overt diabetes, Nat Genet., 38, 583, 10.1038/ng1787 Roth, 2004, The transcription factors HIF-1, HNF-4 and the coactivator p300 are involved in the insulin-regulated glucokinase gene expression via the phos- phatidylinositol 3-kinase/protein kinase B pathway, J Biol Chem., 279, 2623, 10.1074/jbc.M308391200 Otani, 2004, Reduced beta-cell mass and altered glucose sensing impair insulin secretory function in betaIRKO mice, Am J Physiol Endocrinol Metab., 286, E41, 10.1152/ajpendo.00533.2001 Kushner, 2002, Pdx1 restores beta cell function in Irs2 knockout mice, J Clin Invest., 109, 1193, 10.1172/JCI0214439 Hennige, 2003, Upregulation of insulin receptor substrate-2 in pancreatic beta cells prevents diabetes, J Clin Invest., 112, 1521, 10.1172/JCI18581 Gunton, 2005, Loss of ARNT/ HIF1beta mediates altered gene expression and pancreatic- islet dysfunction in human type 2 diabetes, Cell., 122, 337, 10.1016/j.cell.2005.05.027 Dutta, 1998, Regulatory factor linked to late-onset diabetes?, Nature., 392, 560, 10.1038/33311 Dukes, 1998, Defective pancreatic beta-cell glycolytic signaling in hepatocyte nuclear factor- 1alpha-deficient mice, J Biol Chem., 273, 24457, 10.1074/jbc.273.38.24457 Miura, 2006, Hepatocyte nuclear fac- tor-4alpha is essential for glucose-stimulated insulin secretion by pancreatic beta-cells, J Biol Chem., 281, 5246, 10.1074/jbc.M507496200 Gupta, 2005, The MODY1 gene HNF-4alpha regulates selected genes involved in insulin secretion, J Clin Invest., 115, 1006, 10.1172/JCI200522365 Gauthier, 2004, Oligonucleotide microarray analysis reveals PDX1 as an essential regulator of mitochondrial metabolism in rat islets, J Biol Chem., 279, 31121, 10.1074/jbc.M405030200 Matschinsky, 2002, Regulation of pancreatic beta-cell glucoki- nase: from basics to therapeutics, Diabetes., 51, S394, 10.2337/diabetes.51.2007.S394 Njolstad, 2003, Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway, Diabetes., 52, 2854, 10.2337/diabetes.52.11.2854 Sturis, 1994, Compensation in pancreatic beta-cell function in subjects with glucokinase mutations, Diabetes., 43, 718, 10.2337/diabetes.43.5.718 Bonner-Weir, 2000, Islet growth and development in the adult, JMol Endocrinol., 24, 297, 10.1677/jme.0.0240297 Dor, 2004, Adult pancreatic beta-cells are formed by self-duplication rather than stem-cell differentiation, Nature., 429, 41, 10.1038/nature02520 Pick, 1998, Role of apoptosis in failure of beta-cell mass compensation for insulin resistance and beta- cell defects in the male Zucker diabetic fatty rat, Diabetes., 47, 358, 10.2337/diabetes.47.3.358 Butler, 2003, Beta-cell deficit and increased beta-cell apoptosis in humans with type 2 diabetes, Diabetes., 52, 102, 10.2337/diabetes.52.1.102 Gremlich, 1997, Fatty acids decrease IDX-1 expression in rat pancreatic islets and reduce GLUT2, glucokinase, insulin, and somatostatin levels, J Biol Chem., 272, 30261, 10.1074/jbc.272.48.30261 Wu, 1999, Insulin stimulates pancreatic-duodenal homoeobox factor-1 (PDX1) DNA-bind- ing activity and insulin promoter activity in pancreatic beta cells, Biochem J., 344, 813, 10.1042/0264-6021:3440813 Perfetti, 2000, Glucagon-like peptide-1 induces cell proliferation and pancreatic-duodenum home- obox-1 expression and increases endocrine cell mass in the pancreas of old, glucose-intolerant rats, Endocrinology., 141, 4600, 10.1210/en.141.12.4600 Li, 2005, Beta-cell Pdx1 expression is essential for the glucoregulatory, proliferative, and cytoprotective actions of glucagon-like peptide-1, Diabetes., 54, 482, 10.2337/diabetes.54.2.482 Dutta, 2001, PDX:PBX complexes are required for normal proliferation of pancreatic cells during development, Proc Natl Acad Sci U S A., 98, 1065, 10.1073/pnas.98.3.1065 Yang, 2002, Hepatocyte nuclear factor- 1alpha modulates pancreatic beta-cell growth by regulating the expression of insulin-like growth factor-1 in INS-1 cells, Diabetes., 51, 1785, 10.2337/diabetes.51.6.1785 Shimabukuro, 1998, Fatty acid-induced beta cell apoptosis: a link between obesity and diabetes, Proc Natl Acad Sci U S A., 95, 2498, 10.1073/pnas.95.5.2498 Yamagata, 2003, Regulation of pancreatic beta-cell function by the HNF transcription network: lessons from maturity-onset diabetes of the young (MODY), Endocr J., 50, 491, 10.1507/endocrj.50.491 Naya, 1997, Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neuroD-deficient mice, Genes Dev., 11, 2323, 10.1101/gad.11.18.2323 Bulla, 2001, A common regulatory locus affects both HNF4/HNF1alpha pathway activation and sensitivity to LPS-mediated apoptosis in rat hepatoma cells, J Cell Sci., 114, 1205, 10.1242/jcs.114.6.1205 Pennesi, 2003, BETA2/NeuroD1 null mice: a new model for transcription factor-dependent photoreceptor degeneration, J Neurosci., 23, 453, 10.1523/JNEUROSCI.23-02-00453.2003 Newmeyer, 2003, Mitochondria: releasing power for life and unleashing the machineries of death, Cell., 112, 481, 10.1016/S0092-8674(03)00116-8 Zhou, 2000, Overexpression of Bcl-x(L) in beta-cells prevents cell death but impairs mitochondrial signal for insulin secretion, Am J Physiol Endocrinol Metab., 278, E340, 10.1152/ajpendo.2000.278.2.E340 Danial, 2003, BAD and glucokinase reside in a mitochondrial complex that integrates glycolysis and apoptosis, Nature., 424, 952, 10.1038/nature01825 Grimsby, 2003, Allosteric activators of glucokinase: potential role in diabetes therapy, Science., 301, 370, 10.1126/science.1084073 Hertz, 2003, Rescue of MODY-1 by agonist ligands of hepatocyte nuclear factor-4alpha, J Biol Chem., 278, 22578, 10.1074/jbc.M212138200 Wideman, 2006, Improving function and survival of pancreatic islets by endogenous production of glucagon-like peptide 1 (GLP-1, Proc Natl Acad Sci U S A., 103, 13468, 10.1073/pnas.0600655103 Koizumi, 2003, Increased PDX-1 expression is associated with outcome in patients with pancreatic cancer, Surgery., 134, 260, 10.1067/msy.2003.231 Kojima, 2003, NeuroD-betacel- lulin gene therapy induces islet neogenesis in the liver and reverses diabetes in mice, Nat Med., 9, 596, 10.1038/nm867 Hani, 1999, Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus, J Clin Invest., 104, R41, 10.1172/JCI7469 Macfarlane, 1999, Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes, J Clin Invest., 104, R33, 10.1172/JCI7449 Iwasaki, 1997, Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM, Diabetes., 46, 1504, 10.2337/diabetes.46.9.1504 Hegele, 1999, The hepatic nuclear fac- tor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree, J Clin Endocrinol Metab., 84, 1077, 10.1210/jc.84.3.1077