ABCC8

Summary

Gene Symbol: ABCC8
Description: ATP binding cassette subfamily C member 8
Alias: ABC36, HHF1, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2, ATP-binding cassette sub-family C member 8, ATP-binding cassette transporter sub-family C member 8, ATP-binding cassette, sub-family C (CFTR/MRP), member 8, sulfonylurea receptor (hyperinsulinemia), sulfonylurea receptor 1
Species: human

Top Publications

  1. pmc Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia
    S E Flanagan
    Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK
    Clin Genet 79:582-7. 2011
  2. ncbi Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion
    L Aguilar-Bryan
    Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030, USA
    Science 268:423-6. 1995
  3. ncbi Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels
    Grit Taschenberger
    Center for Research on Occupational and Environmental Toxicology, The Department of Medicine, Oregon Health and Science University, Portland, Oregon 97201, USA
    J Biol Chem 277:17139-46. 2002
  4. ncbi Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects
    Norihide Yokoi
    Division of Cellular and Molecular Medicine, Kobe University Graduate School of Medicine, Kobe 650 0017, Japan
    Diabetes 55:2379-86. 2006
  5. pmc Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels
    Qing Zhou
    Department of Biochemistry and Molecular Biology, Oregon Health and Science University, 3181 S W Sam Jackson Park Road, Portland, Oregon 97239, USA
    J Clin Endocrinol Metab 95:E473-8. 2010
  6. ncbi A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM)
    Ricard Masia
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, MO 63110, USA
    Diabetes 56:1357-62. 2007
  7. ncbi Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations
    Meena Rafiq
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes Care 31:204-9. 2008
  8. pmc Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8
    Yu Fukuda
    Department of Pharmaceutical Sciences, St Jude Children s Research Hospital, Memphis, Tennessee 38105, USA
    J Biol Chem 286:8481-92. 2011
  9. ncbi Association of sulfonylurea receptor 1 genotype with therapeutic response to gliclazide in type 2 diabetes
    Huijuan Zhang
    Department of Endocrinology, The First Affiliated Hospital of Harbin Medical University, Harbin, China
    Diabetes Res Clin Pract 77:58-61. 2007
  10. ncbi Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor
    N Inagaki
    Division of Molecular Medicine, Chiba University School of Medicine, Japan
    Science 270:1166-70. 1995

Research Grants

  1. Molecular Regulation of Cardiac KATP Channels in Ischemia
    Jonathan C Makielski; Fiscal Year: 2013
  2. Show Ling Shyng; Fiscal Year: 2016
  3. BIOGENESIS AND MATURATION OF INWARD RECTIFIER K CHANNELS
    Kevin Ho; Fiscal Year: 1999
  4. MYOCARDIAL PERFUSION IN THE HYPERTROPHIED HEART
    ROBERT JAMES BACHE; Fiscal Year: 2010
  5. Redox Regulation of ATP Sensitive Potassium Channels
    Li Bao; Fiscal Year: 2012
  6. Potassium Channels as Macromolecular Complexes
    Thomas A Neubert; Fiscal Year: 2013
  7. The Role of Sulfonylurea Receptor 2 Splice Variants in Myocardial Function
    John P Fahrenbach; Fiscal Year: 2011
  8. Show Ling Shyng; Fiscal Year: 2016
  9. CHARLES ALFRED STANLEY; Fiscal Year: 2016
  10. Role of GLP-1 in Congenital Hyperinsulinism
    DIVA DEL CARMEN DE LEON; Fiscal Year: 2010

Detail Information

Publications209 found, 100 shown here

  1. pmc Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia
    S E Flanagan
    Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK
    Clin Genet 79:582-7. 2011
    Recessive inactivating mutations in the ABCC8 and KCNJ11 genes encoding the adenosine triphosphate-sensitive potassium (K(ATP)) channel subunit sulphonylurea receptor 1 (SUR1) and inwardly rectifying potassium channel subunit (Kir6...
  2. ncbi Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion
    L Aguilar-Bryan
    Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030, USA
    Science 268:423-6. 1995
    ..The results suggest that the sulfonylurea receptor may sense changes in ATP and ADP concentration, affect KATP channel activity, and thereby modulate insulin release...
  3. ncbi Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels
    Grit Taschenberger
    Center for Research on Occupational and Environmental Toxicology, The Department of Medicine, Oregon Health and Science University, Portland, Oregon 97201, USA
    J Biol Chem 277:17139-46. 2002
    Mutations in the pancreatic ATP-sensitive potassium (K(ATP)) channel subunits sulfonylurea receptor 1 (SUR1) and the inwardly rectifying potassium channel Kir6.2 cause persistent hyperinsulinemic hypoglycemia of infancy...
  4. ncbi Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects
    Norihide Yokoi
    Division of Cellular and Molecular Medicine, Kobe University Graduate School of Medicine, Kobe 650 0017, Japan
    Diabetes 55:2379-86. 2006
    ..2 (KCNJ11) and SUR1 (ABCC8) with type 2 diabetes in a Japanese cohort of 2,834 subjects...
  5. pmc Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels
    Qing Zhou
    Department of Biochemistry and Molecular Biology, Oregon Health and Science University, 3181 S W Sam Jackson Park Road, Portland, Oregon 97239, USA
    J Clin Endocrinol Metab 95:E473-8. 2010
    ..Gain-of-function mutations in the sulfonylurea receptor 1 (SUR1) or Kir6.2 channel subunit underlie neonatal diabetes.
  6. ncbi A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM)
    Ricard Masia
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, MO 63110, USA
    Diabetes 56:1357-62. 2007
    ..neonatal diabetes mellitus (PNDM) in a patient with a heterozygous de novo L225P mutation in the L0 region of the sulfonylurea receptor (SUR)1, the regulatory subunit of the pancreatic ATP-sensitive K(+) channel (K(ATP) channel).
  7. ncbi Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations
    Meena Rafiq
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes Care 31:204-9. 2008
    Neonatal diabetes can result from mutations in the Kir6.2 or sulfonylurea receptor 1 (SUR1) subunits of the ATP-sensitive K(+) channel. Transfer from insulin to oral sulfonylureas in patients with neonatal diabetes due to Kir6...
  8. pmc Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8
    Yu Fukuda
    Department of Pharmaceutical Sciences, St Jude Children s Research Hospital, Memphis, Tennessee 38105, USA
    J Biol Chem 286:8481-92. 2011
    ..This analysis led to the discovery of a disease-causing mutation in the sulfonylurea receptor 1 (SUR1)/ABCC8 from a patient with hyperinsulinemic hypoglycemia...
  9. ncbi Association of sulfonylurea receptor 1 genotype with therapeutic response to gliclazide in type 2 diabetes
    Huijuan Zhang
    Department of Endocrinology, The First Affiliated Hospital of Harbin Medical University, Harbin, China
    Diabetes Res Clin Pract 77:58-61. 2007
    To investigate the effects of sulfonylurea receptor 1 (SUR1) exon 33 (TCC-->GCC, S1369A) polymorphism on responsiveness to gliclazide. About 115 patients with type 2 diabetes were treated with gliclazide for 8 weeks...
  10. ncbi Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor
    N Inagaki
    Division of Molecular Medicine, Chiba University School of Medicine, Japan
    Science 270:1166-70. 1995
    ..Coexpression with the sulfonylurea receptor SUR reconstituted an inwardly rectifying potassium conductance of 76 picosiemens that was sensitive to adenosine ..
  11. ncbi Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
    P M Thomas
    Department of Medical Specialties, University of Texas M D Anderson Cancer Center, Houston 77030, USA
    Science 268:426-9. 1995
    Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion, is linked to chromosome 11p14-15.1...
  12. ncbi A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels
    N Inagaki
    Division of Molecular Medicine Center for Biomedical Science, Chiba University School of Medicine, Chuo Ku, Chiba 260, Japan
    Neuron 16:1011-7. 1996
    We have cloned an isoform of the sulfonylurea receptor (SUR), designated SUR2. Coexpression of SUR2 and the inward rectifier K+ channel subunit Kir6...
  13. ncbi Adenosine diphosphate as an intracellular regulator of insulin secretion
    C G Nichols
    Department of Cell Biology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Science 272:1785-7. 1996
    ..A mutation in the second nucleotide-binding fold (NBF2) of the sulfonylurea receptor (SUR) of an individual diagnosed with persistent hyperinsulinemic hypoglycemia of infancy generated KATP channels that ..
  14. ncbi Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
    A Nestorowicz
    Division of Endocrinology, Diabetes and Metabolism, Washington University School of Medicine, St Louis, MO 63110, USA
    Hum Mol Genet 5:1813-22. 1996
    ..genetic basis of HI in Ashkenazi Jews, 25 probands were screened for mutations in the sulfonylurea receptor (SUR1) gene by single-strand conformation polymorphism (SSCP) analysis of genomic DNA and subsequent nucleotide sequence ..
  15. ncbi Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor
    M J Dunne
    Department of Biomedical Science, University of Sheffield, United Kingdom
    N Engl J Med 336:703-6. 1997
  16. pmc The essential role of the Walker A motifs of SUR1 in K-ATP channel activation by Mg-ADP and diazoxide
    F M Gribble
    University Laboratory of Physiology, Oxford, UK
    EMBO J 16:1145-52. 1997
    ..The beta-cell K-ATP channel consists of a pore-forming subunit, Kir6.2, and a regulatory subunit, SUR1. We have mutated (independently or together) two lysine residues in the Walker A (W(A)) motifs of the first (K719A) ..
  17. ncbi Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM
    Y Ohta
    Third Department of Internal Medicine, Yamaguchi University, School of Medicine, Ube, Japan
    Diabetes 47:476-81. 1998
    The sulfonylurea receptor 1 (SUR1) is an essential regulatory subunit of the beta-cell ATP-sensitive K+ channel (K[ATP])...
  18. ncbi Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene
    T Hansen
    Steno Diabetes Center and Hagedorn Research Institute, Glostrup University Hospital, Copenhagen, Denmark
    Diabetes 47:598-605. 1998
    The high-affinity sulfonylurea receptor (SUR1) is, as a subunit of the ATP-sensitive potassium channel, an important regulator of insulin secretion in the pancreatic beta-cell...
  19. ncbi Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy
    S L Shyng
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Diabetes 47:1145-51. 1998
    The ATP-sensitive potassium channel, K(ATP) channel, a functional complex of the sulfonylurea receptor 1, SUR1, and an inward rectifier potassium channel subunit, Kir6.2, regulates insulin secretion in the pancreas...
  20. pmc Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia
    V Verkarre
    INSERM UR 383, Hopital Necker Enfants Malades, University Paris V, 75743 Paris Cedex 15, France
    J Clin Invest 102:1286-91. 1998
    ..However, this region also contains the sulfonylurea receptor (SUR1) gene and the inward rectifying potassium channel subunit (KIR6...
  21. ncbi Molecular biology of adenosine triphosphate-sensitive potassium channels
    L Aguilar-Bryan
    Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
    Endocr Rev 20:101-35. 1999
    ..is underscored by the finding that a recessive form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is caused by mutations in KATP channel subunits that result in the loss of channel activity...
  22. ncbi A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland
    T Otonkoski
    Transplantation Laboratory, Haartman Institute, and University of Helsinki, Finland
    Diabetes 48:408-15. 1999
    Mutations in genes encoding the ATP-regulated potassium (K(ATP)) channels of the pancreatic beta-cell (SUR1 and Kir6.2) are the major known cause of persistent hyperinsulinemic hypoglycemia of infancy (PHHI)...
  23. pmc Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1
    H Huopio
    Department of Pediatrics, Kuopio University Hospital, Kuopio, Finland
    J Clin Invest 106:897-906. 2000
    ..These channels consist of two types of protein subunit: the sulfonylurea receptor SUR1 and the inward rectifying potassium channel Kir6.2...
  24. pmc Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy
    E A Cartier
    Center for Research on Occupational and Environmental Toxicology, Oregon Health Sciences University, 3181 Southwest Sam Jackson Park Road, Portland, OR 97201, USA
    Proc Natl Acad Sci U S A 98:2882-7. 2001
    ..Loss of functional K(ATP) channels because of mutations in either the SUR1 or Kir6.2 channel subunit causes persistent hyperinsulinemic hypoglycemia of infancy (PHHI)...
  25. ncbi 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
    The genes ABCC8 and KCNJ11, which encode the subunits sulfonylurea receptor 1 (SUR1) and inwardly rectifying potassium channel (Kir6.2) of the beta-cell ATP-sensitive potassium (K(ATP)) channel, control insulin secretion...
  26. ncbi Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes
    Maria J Henwood
    Division of Endocrinology Diabetes, The Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    J Clin Endocrinol Metab 90:789-94. 2005
    ..of the pancreatic beta-cell ATP-sensitive potassium channel (K(ATP)), encoded by two genes on chromosome 11p, SUR1 and Kir6.2...
  27. ncbi Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity
    Sharona Tornovsky
    Endocrinology and Metabolism Service, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
    J Clin Endocrinol Metab 89:6224-34. 2004
    ..To date, mutations in five different genes, the sulfonylurea receptor (SUR1, ABCC8), the inward rectifying potassium channel (K(IR)6...
  28. ncbi Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes. The Finnish Diabetes Prevention Study
    Olli Laukkanen
    Department of Medicine, University of Kuopio, 70210 Kuopio, Finland
    J Clin Endocrinol Metab 89:6286-90. 2004
    ..We investigated whether common polymorphisms in the SUR1 and Kir6...
  29. ncbi 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
    ..2 and four subunits of the sulfonylurea receptor 1. It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6...
  30. ncbi A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes
    Peter Proks
    Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, UK
    Hum Mol Genet 15:1793-800. 2006
    ..We therefore hypothesized that activating mutations in the ABCC8 gene, which encodes SUR1, might cause neonatal diabetes...
  31. ncbi Activating mutations in the ABCC8 gene in neonatal diabetes mellitus
    Andrey P Babenko
    Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, USA
    N Engl J Med 355:456-66. 2006
    ..We hypothesized that activating mutations in ABCC8, which encodes SUR1, cause neonatal diabetes.
  32. ncbi ABCC8 and ABCC9: ABC transporters that regulate K+ channels
    Joseph Bryan
    Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA
    Pflugers Arch 453:703-18. 2007
    The sulfonylurea receptors (SURs) ABCC8/SUR1 and ABCC9/SUR2 are members of the C-branch of the transport adenosine triphosphatase superfamily...
  33. ncbi Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers
    Juraj Stanik
    DIABGENE and Diabetes Research Laboratory, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Vlarska 3, SK 833 06 Bratislava, Slovak Republic
    J Clin Endocrinol Metab 92:1276-82. 2007
    Mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic beta-cell K(ATP) channel have recently been shown to be the most common cause of permanent neonatal diabetes mellitus (PNDM)...
  34. pmc Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program
    Jose C Florez
    Diabetes Prevention Program Coordinating Center, Biostatistics Center, George Washington University, 6110 Executive Blvd, Suite 750, Rockville, MD 20852, USA
    Diabetes 56:531-6. 2007
    The common polymorphisms KCNJ11 E23K and ABCC8 A1369S have been consistently associated with type 2 diabetes...
  35. ncbi 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
    ..In patients in whom no abnormality was identified, the KCNJ11 gene and/or ABCC8 gene, which encode the Kir6.2 and SUR1 subunits of the pancreatic beta-cell K(ATP) channel, were sequenced...
  36. ncbi Morphological localisation of sulfonylurea receptor 1 in endocrine cells of human, mouse and rat pancreas
    Y Guiot
    Department of Pathology, Faculty of Medicine, University of Louvain, B 1200, Brussels, Belgium
    Diabetologia 50:1889-99. 2007
    b>Sulfonylurea receptor 1 (SUR1) is the regulatory subunit of ATP-sensitive K channels in beta cells...
  37. pmc Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects
    Sian Ellard
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, EX2 5DW, and Wessex Regional Genetics Labs, Salisbury District Hospital, UK
    Am J Hum Genet 81:375-82. 2007
    ..Patients with PNDM due to a heterozygous activating mutation in the ABCC8 gene encoding the SUR1 regulatory subunit of the K(ATP) channel have recently been reported...
  38. ncbi SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population
    Yukiko Sakamoto
    Division of Genetic Information, Institute for Genome Research, The University of Tokushima, 3 18 15, Kuramoto Cho, Tokushima City, Tokushima 770 8503, Japan
    J Hum Genet 52:781-93. 2007
    Many genetic association studies support a contribution of genetic variants in the KCNJ11-ABCC8 gene locus to type 2 diabetes (T2D) susceptibility in Caucasians...
  39. pmc Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes
    Heidi de Wet
    Henry Wellcome Centre for Gene Function, Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford OX1 3PT, United Kingdom
    Proc Natl Acad Sci U S A 104:18988-92. 2007
    ..2 (KCNJ11) and SUR1 (ABCC8) are a common cause of neonatal diabetes mellitus...
  40. pmc A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes
    Heidi de Wet
    Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, UK
    EMBO Rep 9:648-54. 2008
    Activating mutations in the pore-forming Kir6.2 (KCNJ11) and regulatory sulphonylurea receptor SUR1 (ABCC8) subunits of the K(ATP) channel are a common cause of transient neonatal diabetes mellitus (TNDM)...
  41. pmc Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations
    Sara E Pinney
    Division of Endocrinology Diabetes, The Children s Hospital of Philadelphia, Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Clin Invest 118:2877-86. 2008
    ..Though most disease-causing mutations of the 2 genes encoding KATP subunits, ABCC8 (SUR1) and KCNJ11 (Kir6...
  42. pmc Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients
    Yan Feng
    Anhui Biomedical Institute, Anhui Medical University, Hefei, China
    Diabetes Care 31:1939-44. 2008
    ..The purpose of this study was to investigate whether genetic variants could influence the antidiabetic efficacy of gliclazide in type 2 diabetic patients...
  43. doi Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism
    Sarah E Flanagan
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
    Hum Mutat 30:170-80. 2009
    ..2 and four subunits of the sulfonylurea receptor 1 (SUR1). It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6...
  44. doi The genetic basis of congenital hyperinsulinism
    C James
    London Centre for Paediatric Endocrinology and Metabolism, Hospital for Children NHS Trust, and The nstitute of Child Health, University College London, London, UK
    J Med Genet 46:289-99. 2009
    ..Recessive inactivating mutations in ABCC8 and KCNJ11 (which encode the two subunits of the adenosine triphosphate sensitive potassium channels (ATP ..
  45. ncbi The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy
    T Sandal
    aSection for Pathology, The Gade Institute, and bSection for Pediatrics, Department of Clinical Medicine, University of Bergen, Norway
    Clin Genet 75:440-8. 2009
    ..2, which are encoded by the genes ABCC8 and KCNJ11, respectively...
  46. pmc Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel
    Kevin S C Hamming
    Department of Pharmacology, Alberta Diabetes Institute, University of Alberta, Alberta, Canada
    Diabetes 58:2419-24. 2009
    ..2 and SUR1 subunits encoded by KCNJ11 and ABCC8, respectively. Sulfonylureas, which inhibit the K(ATP) channel, are used to treat type 2 diabetes...
  47. doi Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation
    Teresa C Vieira
    Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil
    Pediatr Diabetes 11:505-8. 2010
    ..are involved in the development of CHI, but the most common genetic defects are inactivating mutations of the ABCC8 or KCNJ11 genes. The classical treatment for CHI has been pancreatectomy that eventually leads to diabetes...
  48. doi ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
    C Bellanne-Chantelot
    Centre de Génétique Moléculaire et Chromosomique, Groupe Hospitalier Pitie Salpetriere, 47 83 Bd de l Hopital, 75651 Paris Cedex 13, France
    J Med Genet 47:752-9. 2010
    ..This condition is mostly caused by mutations in ABCC8 or KCNJ11 genes encoding the SUR1 and KIR6.2 subunits of the ATP-sensitive potassium (K(ATP)) channel...
  49. pmc Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1
    Courtney M MacMullen
    Division of Endocrinology Diabetes, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Diabetes 60:1797-804. 2011
    ..commonly associated with inactivating mutations of the β-cell ATP-sensitive K(+) channel (K(ATP) channel) genes ABCC8 (SUR1) and KCNJ11 (Kir6.2)...
  50. pmc Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes
    Roope Mannikko
    Henry Wellcome Centre for Gene Function, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, U K
    Diabetes 60:1813-22. 2011
    ..E1506G) in the nucleotide-binding domain 2 (NBD2) of the ATP-sensitive K(+) channel (K(ATP) channel) sulfonylurea receptor 1 (SUR1) subunit were detected heterozygously in patients with neonatal diabetes...
  51. pmc Sequential activation of hypoxia-inducible factor 1 and specificity protein 1 is required for hypoxia-induced transcriptional stimulation of Abcc8
    Seung Kyoon Woo
    Department of Neurosurgery, University of Maryland School of Medicine, Baltimore, Maryland 21201 1595, USA
    J Cereb Blood Flow Metab 32:525-36. 2012
    Cerebral ischemia causes increased transcription of sulfonylurea receptor 1 (SUR1), which forms SUR1-regulated NC(Ca-ATP) channels linked to cerebral edema...
  52. ncbi The common single nucleotide polymorphism E23K in K(IR)6.2 sensitizes pancreatic beta-cell ATP-sensitive potassium channels toward activation through nucleoside diphosphates
    Christina Schwanstecher
    Institute of Pharmacology and Toxicology, University of Braunschweig, Braunschweig, Germany
    Diabetes 51:S363-7. 2002
    ....
  53. ncbi Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor
    Paul S Thornton
    Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Diabetes 52:2403-10. 2003
    Recessive mutations of sulfonylurea receptor 1 (SUR1) and potassium inward rectifier 6.2 (Kir6...
  54. ncbi Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region
    Jose C Florez
    Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 53:1360-8. 2004
    The genes for the sulfonylurea receptor (SUR1; encoded by ABCC8) and its associated islet ATP-sensitive potassium channel (Kir6.2; encoded by KCNJ11) are adjacent to one another on human chromosome 11...
  55. ncbi Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor
    Sheela N Magge
    Division of Endocrinology, Children s Hospital of Philadelphia, Abramson Research Center, Room 802, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104 4318, USA
    J Clin Endocrinol Metab 89:4450-6. 2004
    ..Mutation analysis of four known HI genes (sulfonylurea receptor 1, Kir6...
  56. ncbi The common C49620T polymorphism in the sulfonylurea receptor gene (ABCC8), pancreatic beta cell function and long-term diabetic complications in obese patients with long-lasting type 2 diabetes mellitus
    A Stefanski
    Department of Diabetology and Internal Diseases, Pomeranian Medical University, Szczecin, Poland
    Exp Clin Endocrinol Diabetes 115:317-21. 2007
    ..A gene polymorphism associated with accelerated beta-cell failure may lead to a more rapid development of long-term complications of type 2 diabetes (T2DM) due to a worse metabolic control of the disease...
  57. doi A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults
    Andrei I Tarasov
    Section of Cell Biology, Division of Medicine, Imperial College London, London, UK
    Diabetes 57:1595-604. 2008
    ..We describe here an activating mutation in the ABCC8 gene, encoding SUR1, that is associated with the development of type 2 diabetes only in adults.
  58. pmc Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1
    Marcus Winkler
    Department of Pharmacology and Toxicology, Medical Faculty, University of Tubingen, Wilhelmstrasse 56, Tübingen D 72074, Germany
    J Biol Chem 284:6752-62. 2009
    ..Nucleotide binding to Kir6.2 inhibits channel activity, whereas ATP binding/hydrolysis on sulfonylurea receptor 1 (SUR1) opposes inhibition. Segments of the Kir6...
  59. pmc Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations
    R R Kapoor
    Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK
    Diabetologia 54:2575-83. 2011
    Dominantly acting loss-of-function mutations in the ABCC8/KCNJ11 genes can cause mild medically responsive hyperinsulinaemic hypoglycaemia (HH)...
  60. ncbi Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians
    H Inoue
    Division of Metabolism, Diabetes and Endocrinology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Diabetes 45:825-31. 1996
    ..The sulfonylurea receptor (SUR) gene, now known to encode an integral component of the pancreatic beta-cell ATP-sensitive potassium channel, IKATP,..
  61. ncbi Genetic heterogeneity in familial hyperinsulinism
    A Nestorowicz
    Division of Endocrinology, Diabetes and Metabolism, Washington University School of Medicine, St Louis, MO 63110, USA
    Hum Mol Genet 7:1119-28. 1998
    ..Mutations in both the Kir6.2 and sulfonylurea receptor (SUR1) genes have been associated with the autosomal recessive form of this disorder...
  62. ncbi Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1
    Y Tanizawa
    Third Department of Internal Medicine, Yamaguchi University School of Medicine, Ube, Japan
    Diabetes 49:114-20. 2000
    ..we conducted a polymerase chain reaction-single-strand conformation polymorphism analysis of the sulfonylurea receptor 1 (SUR1) and Kir6...
  63. ncbi Sulfonylurea receptor -1 (SUR1): genetic and metabolic evidences for a role in the susceptibility to type 2 diabetes mellitus
    A F Reis
    INSERM U 342, Paris, France
    Diabetes Metab 28:14-9. 2002
    ..2), and a regulatory subunit, namely the sulfonylurea receptor-1 (SUR1), which binds this widely used class of insulin-secreting drugs. Mutations in the genes encoding Kir6...
  64. ncbi [Study on association between gestational diabetes mellitus and sulfonylurea receptor-1 gene polymorphism]
    Xiu min Niu
    Department of Obstetrics and Gynecology, General Hospital of Tianjin Medical University, China
    Zhonghua Fu Chan Ke Za Zhi 40:159-63. 2005
    To investigate allelic frequency of sulfonylurea receptor-1 (SUR1) in gestational diabetes mellitus (GDM) women of Han nationality in north China in order to find out susceptible gene associated with GDM, and to assess the association ..
  65. ncbi Co-localisation of the Kir6.2/SUR1 channel complex with glucagon-like peptide-1 and glucose-dependent insulinotrophic polypeptide expression in human ileal cells and implications for glycaemic control in new onset type 1 diabetes
    Lotte B Nielsen
    Department of Paediatrics, Glostrup University Hospital, Ndr Ringvej 57, DK 2600 Glostrup, Denmark
    Eur J Endocrinol 156:663-71. 2007
    ..2 and SUR1, in human L- and K-cells and 2) investigate if a common hyperactive variant of the Kir6...
  66. ncbi Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood
    Emma L Edghill
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5DW, UK
    Diabetes 57:1034-42. 2008
    ..We aimed to determine the prevalence, genetics, and clinical phenotype of INS mutations in large cohorts of patients with neonatal diabetes and permanent diabetes diagnosed in infancy, childhood, or adulthood...
  67. pmc A novel ABCC8 (SUR1)-dependent mechanism of metabolism-excitation uncoupling
    Andrey P Babenko
    Pacific Northwest Research Institute, 720 Broadway, Seattle, WA 98122, USA
    J Biol Chem 283:8778-82. 2008
    ..Mutations in SUR1 that abolish its stimulation have been found in infants persistently releasing insulin...
  68. pmc Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence
    Maha Abdulhadi-Atwan
    Division of Pediatric Endocrinology, Department of Pediatrics, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Diabetes 57:1935-40. 2008
    ..We aimed to genotype the ATP-sensitive K(+) channel in a 10.5-year-old girl presenting with overt diabetes following hyperinsulinism in infancy...
  69. pmc Sulfonylurea receptor 1 in the germinal matrix of premature infants
    J Marc Simard
    Department of Neurosurgery, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
    Pediatr Res 64:648-52. 2008
    ..In the CNS, hypoxia/ischemia up-regulate sulfonylurea receptor 1 (SUR1)-regulated NCCa-ATP channels in microvascular endothelium, with channel activation by depletion of ..
  70. doi The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chinese and East Asian population
    Daizhan Zhou
    Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, PR China
    J Hum Genet 54:433-5. 2009
    The genes (ABCC8 and KCNJ11) have a key role in glucose-stimulated insulin secretion and thus have always been considered as excellent susceptibility candidates for involvement in type 2 diabetes...
  71. doi Metabolic control in type 2 diabetes is associated with sulfonylurea receptor-1 (SUR-1) but not with KCNJ11 polymorphisms
    Nora Nikolac
    University Department of Chemistry, Sestre Milosrdnice University Hospital, Zagreb, Croatia
    Arch Med Res 40:387-92. 2009
    ..They bind to sulfonylurea receptor-1 (SUR-1), which is a functional subunit of the ATP-sensitive potassium channel (K(ATP))...
  72. pmc Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations
    S E Flanagan
    Peninsula Medical School, Institute of Biomedical and Clinical Science, University of Exeter, Exeter, UK
    Eur J Endocrinol 162:987-92. 2010
    ..In this study, we investigated the prevalence of HNF4A mutations in a large cohort of patients with diazoxide responsive hyperinsulinemic hypoglycemia (HH)...
  73. pmc Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies
    Sven Pörksen
    Department of Pediatrics, Glostrup Hospital and University of Copenhagen, Copenhagen, Denmark
    BMC Endocr Disord 10:16. 2010
    ..Furthermore the study aimed at determining whether mutations in KCNJ11, ABCC8, HNF1A, HNF4A or INS are common in AAB negative diabetes.
  74. doi ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia
    Benjamin Glaser
    Internal Medicine Department, Endocrinology and Metabolism Service, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Genet Med 13:891-4. 2011
    ..infancy (OMIM# 256450) is a devastating disease most commonly caused by dominant or recessive mutations in either ABCC8 or KCNJ11, the genes that encode for the β-cell adenosine triphosphate-regulated potassium channel...
  75. pmc Mechanism of KATP hyperactivity and sulfonylurea tolerance due to a diabetogenic mutation in L0 helix of sulfonylurea receptor 1 (ABCC8)
    Andrey P Babenko
    Pacific Northwest Research Institute, University of Washington Diabetes Endocrinology Research Center, Seattle, WA 98122, United States
    FEBS Lett 585:3555-9. 2011
    Activating mutations in different domains of the ABCC8 gene-coded sulfonylurea receptor 1 (SUR1) cause neonatal diabetes...
  76. ncbi Regulated expression of adenosine triphosphate-sensitive potassium channel subunits in pancreatic beta-cells
    W Moritz
    Laboratory of Molecular Endocrinology, Massachusetts General Hospital, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02114, USA
    Endocrinology 142:129-38. 2001
    ..and function of the ATP-sensitive potassium channel (K(ATP)), which is composed of a sulfonylurea receptor (SUR1) and an inwardly rectifying potassium channel (Kir6.2)...
  77. ncbi Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences
    I Flechtner
    Clinique des Maladies du Développement, Unité d endocrinologie, Diabétologie et Gynécologie Pédiatrique, Hopital Necker Enfants Malades, 149, rue de Sevres, Paris, France
    Diabetes Metab 32:569-80. 2006
    ..Several isoforms exist for each type of subunits: SUR1 is found in the pancreatic beta-cell and neurons, whereas SUR2A is in heart cells and SUR2B in smooth muscle; Kir6...
  78. ncbi Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy
    Laura Biagiotti
    Department of Sciences and Biomedical Technologies, University of Milan, Italy
    Exp Mol Pathol 83:59-64. 2007
    ..which is the pore-forming unit and belongs to the inwardly rectifying potassium channel family, and SUR1 (sulfonylurea receptor 1) encoded by the ABCC8 gene, which belongs to the ATP-binding cassette (ABC) transporter family...
  79. ncbi Molecular mechanisms underlying ketamine-mediated inhibition of sarcolemmal adenosine triphosphate-sensitive potassium channels
    Takashi Kawano
    Department of Anesthesiology, Tokushima University School of Medicine, Tokushima, Japan
    Anesthesiology 102:93-101. 2005
    ..1 or Kir6.2) and sulfonylurea receptors (SUR1, SUR2A, or SUR2B).
  80. ncbi Molecular mechanisms of the inhibitory effects of propofol and thiamylal on sarcolemmal adenosine triphosphate-sensitive potassium channels
    Takashi Kawano
    Department of Anesthesiology, Tokushima University School of Medicine, 3 18 15 Kuramoto, Tokushima 770 8503, Japan
    Anesthesiology 100:338-46. 2004
    ..1 or Kir6.2) genes and sulfonylurea receptor (SUR1, SUR2A, or SUR2B) genes.
  81. doi Effects of adrenalectomy on neuronal substrate fuel transporter and energy transducer gene expression in hypothalamic and hindbrain metabolic monitoring sites
    Ajeesh Koshy Cherian
    Department of Basic Pharmaceutical Sciences, College of Pharmacy, The University of Louisiana at Monroe, Monroe, LA 71201, USA
    Neuroendocrinology 91:56-63. 2010
    ..RT-PCR for neuronal glucose (GLUT3, GLUT4), monocarboxylate (MCT2) transporter, GCK, and sulfonylurea receptor-1 (SUR1) mRNA content...
  82. ncbi Characterization of the mouse sulfonylurea receptor 1 promoter and its regulation
    C Hernandez-Sanchez
    Section on Molecular and Cellular Physiology, Diabetes Branch, NIDDK, National Institutes of Health, Bethesda, Maryland 20892 1770, USA
    J Biol Chem 274:18261-70. 1999
    ..We have cloned and characterized the promoter region of the mouse SUR1 gene, and have shown that it lacks CAAT and TATA boxes or an initiator element...
  83. pmc Role of Hsp90 in biogenesis of the beta-cell ATP-sensitive potassium channel complex
    Fei Fei Yan
    Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, OR 97239, USA
    Mol Biol Cell 21:1945-54. 2010
    ..2) and four sulfonylurea receptor 1 (SUR1) subunits...
  84. ncbi MRP8, ATP-binding cassette C11 (ABCC11), is a cyclic nucleotide efflux pump and a resistance factor for fluoropyrimidines 2',3'-dideoxycytidine and 9'-(2'-phosphonylmethoxyethyl)adenine
    Yanping Guo
    Medical Science Division, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
    J Biol Chem 278:29509-14. 2003
    b>MRP8 (ABCC11) is a recently identified cDNA that has been assigned to the multidrug resistance-associated protein (MRP) family of ATP-binding cassette transporters, but its functional characteristics have not been determined...
  85. ncbi Toward understanding the assembly and structure of KATP channels
    L Aguilar-Bryan
    Department of Cell Biology, Baylor College of Medicine, Houston, Texas, USA
    Physiol Rev 78:227-45. 1998
    ..Mutations in both the SUR1 and KIR6...
  86. ncbi Suppression of insulin oversecretion by subcutaneous recombinant human insulin-like growth factor I in children with congenital hyperinsulinism due to defective beta-cell sulfonylurea receptor
    L E Katz
    Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania, 19104 4399, USA
    J Clin Endocrinol Metab 84:3117-24. 1999
    ..HI is most often due to defective glucose-insulin coupling by the beta-cell sulfonylurea receptor (SUR1) or glutamate dehydrogenase...
  87. pmc In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy
    Philippa D Powell
    Faculty of Life Sciences, University of Manchester, Manchester, UK
    Diabetes 60:1223-8. 2011
    ..from pancreatic β-cells; severe forms are associated with defects in ABCC8 and KCNJ11 genes encoding sulfonylurea receptor 1 (SUR1) and Kir6.2 subunits, which form ATP-sensitive K(+) (K(ATP)) channels in β-cells...
  88. ncbi Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies
    Morris Muzyamba
    BHF Laboratories and Department of Medicine, University College London, London, UK
    Clin Endocrinol (Oxf) 67:115-24. 2007
    ..Mutations in the genes ABCC8 and KCNJ11 encoding SUR1 and Kir6.2, respectively, are the commonest cause of CHI...
  89. pmc Exendin-(9-39) corrects fasting hypoglycemia in SUR-1-/- mice by lowering cAMP in pancreatic beta-cells and inhibiting insulin secretion
    Diva D De Leon
    Division of Endocrinology, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    J Biol Chem 283:25786-93. 2008
    ..Loss-of-function mutations in the K(ATP) channel (composed of two subunits: Kir6.2 and SUR-1) are responsible for the most common and severe form of congenital hyperinsulinism...
  90. ncbi The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism
    Irina Giurgea
    INSERM U654, and Department of Genetics, Hopital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, 94010 Creteil Cedex, France
    J Clin Endocrinol Metab 91:4118-23. 2006
    ..Focal CHI is sporadic and is caused by a germline, paternally inherited, mutation of the SUR1 (ABCC8) or KIR6...
  91. doi Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism
    L Damaj
    Department of Pathology, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Service d Anatomie Pathologique and Tumorotheque, 149 rue de Sevres, 75015 Paris, France
    J Clin Endocrinol Metab 93:4941-7. 2008
    ..forms of congenital hyperinsulinism are due to a constitutional heterozygous mutation of paternal origin in the ABCC8 gene, more often than the KCNJ11 gene, located in the 11p15.1 region...
  92. pmc Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure
    Emily B Pratt
    Center for Research on Occupational and Environmental Toxicology, Oregon Health and Science University, Portland, Oregon 97239, USA
    J Biol Chem 284:7951-9. 2009
    The beta-cell ATP-sensitive potassium (K(ATP)) channel composed of sulfonylurea receptor SUR1 and potassium channel Kir6.2 serves a key role in insulin secretion regulation by linking glucose metabolism to cell excitability...
  93. ncbi Mechanisms of the glycaemic effects of sulfonylureas
    F M Ashcroft
    University Laboratory of Physiology, Oxford
    Horm Metab Res 28:456-63. 1996
    ..2) and a drug-binding subunit (SUR1) which functions as the receptor for sulfonylureas...
  94. pmc Syringomycin E inhibition of Saccharomyces cerevisiae: requirement for biosynthesis of sphingolipids with very-long-chain fatty acids and mannose- and phosphoinositol-containing head groups
    S D Stock
    Department of Biology, Utah State University, Logan, Utah 84322 5305, USA
    Antimicrob Agents Chemother 44:1174-80. 2000
    ..Finally, Deltacsg1/sur1 and Deltacsg2 strains defective in the transfer of mannose to inositolphosphoryl-ceramide were resistant to ..
  95. ncbi Role of common sequence variants in insulin secretion in familial type 2 diabetic kindreds: the sulfonylurea receptor, glucokinase, and hepatocyte nuclear factor 1alpha genes
    S C Elbein
    Department of Medicine, Central Arkansas Veterans Healthcare System and University of Arkansas for Medical Sciences, Little Rock, USA
    Diabetes Care 24:472-8. 2001
    ..the primary hypotheses that previously described variants in the pancreatic sulfonylurea receptor gene (SUR1 or ABCC8), glucokinase (GCK) gene, or hepatocyte nuclear factor 1alpha (TCF1 or HNF1alpha) gene contribute to the inherited ..
  96. ncbi [Belgian law on the Régime de l'alcool of 1919: from the individual measures to social well-being]
    R Campos
    Departamento de Historia de la Ciencia, , CSIC
    Cuad Complut Hist Med Cienc 2:275-94. 1993
    ..The promulgation of "La loi sur le Régime de l'alcool" and "La loi concernant les débits des Boissons Fermentés" on August 29 1919 was the ..
  97. ncbi Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene
    B Glaser
    Department of Endocrinology and Metabolism, Hebrew University, Hadassah Medical School, Jerusalem, Israel
    Diabetes 48:1652-7. 1999
    ..Some patients have focal regions of beta-cell proliferation (focal HI). Seventy HI probands in whom at least one SUR-1 mutation was identified were studied...
  98. ncbi Effects of caudal hindbrain lactate infusion on insulin-induced hypoglycemia and neuronal substrate transporter glucokinase and sulfonylurea receptor-1 gene expression in the ovariectomized female rat dorsal vagal complex: Impact of estradiol
    Kamlesh V Vavaiya
    Department of Basic Pharmaceutical Sciences, College of Pharmacy, The University of Louisiana at Monroe, Monroe, Louisiana 71209, USA
    J Neurosci Res 86:694-701. 2008
    ..DVC MCT2, GLUT3, GLUT4, glucokinase (GCK), and sulfonylurea receptor-1 (SUR1) mRNA levels did not differ between saline-injected OVX + E and OVX + O rats...
  99. pmc An increased MRP8/14 expression and adhesion, but a decreased migration towards proinflammatory chemokines of type 1 diabetes monocytes
    G Bouma
    Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
    Clin Exp Immunol 141:509-17. 2005
    ..Previously, we showed an increased serum level of MRP8/14 in type 1 diabetes patients that induced healthy monocytes to adhere more strongly to fibronectin (FN)...
  100. ncbi Effects of caudal fourth ventricular lactate infusion on hypoglycemia-associated MCT2, GLUT3, GLUT4, GCK, and sulfonylurea receptor-1 gene expression in the ovariectomized female rat LHA and VMH: impact of estradiol
    Kamlesh V Vavaiya
    Department of Basic Pharmaceutical Sciences, College of Pharmacy, The University of Louisiana at Monroe, Monroe, LA 71209, USA
    J Mol Neurosci 34:121-9. 2008
    ..MCT2, GLUT3, GLUT4, GCK, and SUR1 mRNA levels in the LHA and VMH did not differ between saline-injected ovariectomized (OVX) rats implanted with ..
  101. ncbi Sulfonylureas correct trafficking defects of disease-causing ATP-sensitive potassium channels by binding to the channel complex
    Fei Fei Yan
    Center for Research on Occupational and Environmental Toxicology, Oregon Health and Science University, Portland, Oregon 97239, USA
    J Biol Chem 281:33403-13. 2006
    ..Reduced K(ATP) channel expression caused by mutations in the channel proteins: sulfonylurea receptor 1 (SUR1) and Kir6.2, results in loss of channel function as seen in congenital hyperinsulinism...

Research Grants63

  1. Molecular Regulation of Cardiac KATP Channels in Ischemia
    Jonathan C Makielski; Fiscal Year: 2013
    ..A transgenic mouse targeting exon 3 removed SUR proteins including SUR2-55 but died within 14 days after birth...
  2. Show Ling Shyng; Fiscal Year: 2016
    ..The [unreadable]-cell KATP channel is formed by the sulfonylurea receptor SUR1 and the inward rectifier potassium channel Kir6.2. Loss-of-function mutations in SUR1 and Kir6...
  3. BIOGENESIS AND MATURATION OF INWARD RECTIFIER K CHANNELS
    Kevin Ho; Fiscal Year: 1999
    ..2 and SUR1); the salt-wasting disorder, Bartter's syndrome (Kir1...
  4. MYOCARDIAL PERFUSION IN THE HYPERTROPHIED HEART
    ROBERT JAMES BACHE; Fiscal Year: 2010
    ..To further assess the importance of KATP on the response to chronic overload, mice expressing mutated Kir6.2 or SUR that result in ATP-insensitive KATP channels will be subjected to transverse aortic constriction to determine ..
  5. Redox Regulation of ATP Sensitive Potassium Channels
    Li Bao; Fiscal Year: 2012
    ..Using the SUR1 CC domain as the bait in a two-hybrid screen against a rat cardiac cDNA library, we identified thioredoxin-2 as a ..
  6. Potassium Channels as Macromolecular Complexes
    Thomas A Neubert; Fiscal Year: 2013
    ..1, Kir6.2, SUR1, SUR2A and SUR2B)...
  7. The Role of Sulfonylurea Receptor 2 Splice Variants in Myocardial Function
    John P Fahrenbach; Fiscal Year: 2011
    ..To explore this hypothesis, a new mouse was generated where exon 5 was deleted from the SUR gene...
  8. Show Ling Shyng; Fiscal Year: 2016
    ..In pancreatic [unreadable]- cells, KATP channels formed by Kir6.2 and SUR1 mediate glucose-stimulated insulin secretion. Mutations in Kir6...
  9. CHARLES ALFRED STANLEY; Fiscal Year: 2016
    ..novel molecular defects of the two adjacent genes on 11p that are responsible for most cases of this form of HI: ABCC8/SUR1 and KCNJ11/Kir6.2...
  10. Role of GLP-1 in Congenital Hyperinsulinism
    DIVA DEL CARMEN DE LEON; Fiscal Year: 2010
    ..Loss-of-function mutations in the KATP channel (composed by two subunits: Kir6.2 and SUR-1) are responsible for the most common and severe form of HI (KATPHI)...
  11. EFFECTS OF EPOXYEICOSATRIENOIC ACIDS ON KATP CHANNEL
    Hon Chi Lee; Fiscal Year: 2003
    ..2 subunits and four SUR subunits. The pancreatic beta cell KATP channel is composed of KIR6.2 and SUR1. The cardiac channel consists of KIR6.2 and SUR2A whereas the smooth muscle channel consists of KIR6.2 and SUR2B...
  12. George G Holz; Fiscal Year: 2016
    ..the plasma membrane where an interaction of Epac2 with its putative effector molecule the sulfonylurea receptor-1 (SUR1) occurs. The Relevance of this line of investigation is fully apparent...
  13. Electrical Control of Insulin Secretion
    Colin G Nichols; Fiscal Year: 2013
    ..2-/-, SUR1-/-) and underexcitable (tamoxifen-induced Pdx-DTG) animals...
  14. MOLECULAR BASIS OF ANTIDIABETOGENIC HORMONE ACTION
    GEORGE HOLZ; Fiscal Year: 2000
    ..Specific Aim is to determine if this action of sulfonylureas is mediated by a high affinity sulfonylurea receptor (SUR) acting as a transmembrane conductance regulator of CA-NS channels...
  15. Clifford A Lowell; Fiscal Year: 2016
    ..Deletion of SHP-1 specifically in neutrophils (using MRP8-Cre) recapitulates much of the inflammatory disease in present in mev/mev mice but the animals don't get ..
  16. Cardioprotective Actions of Hydrogen Sulfide
    DAVID JOSEPH LEFER; Fiscal Year: 2013
    ..In vivo Studies will be performed using gene-targeted mice with cardiac myocyte deletion of KATP (Sur 1, Kir 6.1, and Kir 6.2 subunits) treated with H2S and subjected to MI-R...
  17. J Marc Simard; Fiscal Year: 2016
    ..Preliminary data for this proposal show that the sulfonylurea receptor 1 (SUR1)-regulated NC(Ca-ATP) channel, which we discovered plays a central role in non-blast-induced ..
  18. VLADIMIR GERZANICH; Fiscal Year: 2014
    ..the NCCa-ATP channel is critically involved in PSH, with strong evidence showing critical involvement of sulfonylurea receptor 1 (SUR1), the regulatory subunit of channel...
  19. Rural Primary Health Care Providers Response to Intimate Partner Violence and Sur
    ANNAH BENDER; Fiscal Year: 2013
    ....
  20. Pathological role of the SUR1-regulated NC(Ca-ATP) channel in cortex after subara
    J Marc Simard; Fiscal Year: 2013
    ..We recently discovered a new ion channel, the sulfonylurea receptor-1 (SUR1)-regulated NC(Ca- ATP) channel, whose activation is associated with formation of cerebral edema and neuronal cell ..
  21. Regulation of Monocyte and Granulocyte Lineage Specification
    Alan D Friedman; Fiscal Year: 2013
    ..or with tet-regulated lentiviral vectors followed by analysis 1-4 months later or be generation and breeding of MRP8 transgenic mice...
  22. Conditional knockout mice lacking K(ATP) channel subunits
    William A Coetzee; Fiscal Year: 2010
    ..The molecular identification of KATP channels (Kir6.1, Kir6.2, SUR1, SUR2A and/or SUR2B subunits) has further advanced our knowledge regarding the distribution and function of these ..
  23. J Marc Simard; Fiscal Year: 2016
    ..We recently discovered that newly expressed SUR1-regulated NC(Ca-ATP) channels are critically involved in necrotic cell death and in secondary hemorrhage post- SCI...
  24. Reducing Unhealthy Alcohol Use in Older Hispanic Day Laborers
    ALISON AHERN MOORE; Fiscal Year: 2012
    ..The Instituto de Educacisn Popular del Sur de California (IDEPSCA) is a non-profit community-based educational organization that has a Workers Health Program ..
  25. Jeffrey D Hasday; Fiscal Year: 2016
    ..The processes that regulate epithelial cell sur- vival are critical to how lung epithelium responds to acute and chronic environmental challenges with important ..
  26. J Marc Simard; Fiscal Year: 2016
    ..The previous cycle of this grant established that the novel SUR1-regulated NCCa-ATP channel (hereinafter called the SUR1/TRPM4 channel) plays a critical role in edema, lesion ..
  27. Detecting invading glioma cells through in vivo molecular imaging of the cell sur
    Susann M Brady-Kalnay; Fiscal Year: 2013
    ..abstract_text> ..
  28. Improving Rate/Quality Limitations in Membrane Protein Structure Determination
    William A Cramer; Fiscal Year: 2010
    ..with an emphasis on ABC and hetero-oligomeric proteins;(i) ABC: maltose and ribose transporters, ABCBl, ABCG2, and Sur-Kir6.2;(ii) non-ABC: twin-arginine translocase;Kdp-ATPase;NADH dehydrogenase...
  29. David C Gadsby; Fiscal Year: 2014
    ..belongs to subfamily ABC-C, like other medically important proteins MRP (multidrug resistance related protein) and SUR (sulfonylurea receptor)...
  30. BIODIVERSITY CONSERVATION AND DRUG DISCOVERY IN MADAGASCAR
    DAVID GEORGE IAN KINGSTON; Fiscal Year: 2013
    ..Marine organisms will be collected by teams from Centre National de Recherches sur l'Environnement (CNRE) and Centre National de Recherches Oceanographiques (CNRO)...
  31. Bradford B Lowell; Fiscal Year: 2016
    ..capacity is conferred by expression of Suri-containing KATP channels;non-glucose sensing subsets do not express Sur1. Leptin-responding POMC neurons, on the other hand, express leptin receptors (LEPRs), but not Suri...
  32. Function of the MRP Family
    Gary D Kruh; Fiscal Year: 2010
    ..of the in vivo functions of MRP3 and MRP4, and on the elucidation of the functional properties of MRP6, MRP7 and MRP8. To accomplish this we developed and analyzed mrp3 and mrp4 knock-out mice and cell lines in which MRP6, MRP7 and ..
  33. Function of the MRP Family
    James M Gallo; Fiscal Year: 2013
    ..of the in vivo functions of MRP3 and MRP4, and on the elucidation of the functional properties of MRP6, MRP7 and MRP8. To accomplish this we developed and analyzed mrp3 and mrp4 knock-out mice and cell lines in which MRP6, MRP7 and ..
  34. A RuleFit Product for Classification and Regression
    DAN STEINBERG; Fiscal Year: 2007
    ..advanced statistical and machine learning methods, particularly in the area of classi?cation and regression trees, sur- vival analysis, adaptive modeling, RANDOM FORESTS and MART. He will oversee all aspects of the project...
  35. A Population-based Controlled Investigation of QOL and Health Behaviors Among Sur
    Andrea Floyd; Fiscal Year: 2010
    ..This study will aid in identifying the unique needs of SCDYA and set the stage for future targeted interventions efforts in this understudied group to enhance QOL and promote appropriate healthy behaviors. ..
  36. Bisphosphonate binding to connexin43-expressing cells
    Teresita Bellido; Fiscal Year: 2007
    ..Ricardo Boland from the Department of Biology, Biochemistry and Pharmacy of the Universidad Nacional del Sur, Argentina...
  37. Colin G Nichols; Fiscal Year: 2016
    ..Previous efforts on this project have demonstrated that both SUR1 and SUR2 genes are expressed in the heart, with spatial and pathological variability in different regions...
  38. Prevention of Biofilm Growth on Orthopedic Implant Materials Through Chemical Sur
    ELLEN GAWALT; Fiscal Year: 2009
    ..These biofilms can cause implant infections, which currently affect 1 million patients per year in the United States. ..
  39. PROTEIN PHOSPHATASE 2A REGULATION OF RAS SIGNALING
    Meera Sundaram; Fiscal Year: 2004
    ..We identified a PR55/B regulatory subunit of Protein Phosphatase 2A (SUR-6 PP2A-B) as a positive modulator of Ras signaling in C...
  40. ISLET TOLERANCE INDUCTION BASED ON ANTI-CD154 ANTIBODY
    Aldo Rossini; Fiscal Year: 2006
    ..Transplantation tolerance induction based on blockade of co-stimulation greatly prolongs islet and skin allograft sur- vival in rodents and primates...
  41. Development of HTS Assay:PK(ATP)FLIPR Channels (RMI)
    Xinmin Xie; Fiscal Year: 2005
    ..Develop a FLIPR(r) 96- or 384-well format HTS assay against the pancreatic form of K(ATP) channels(SUR1/Kir6. 2 subunits) for primary screening and against the muscle form (e. g. , SUR2/Kir6...
  42. Opening and Closing Mechanisms of CFTR Channels
    LASZLO CSANADY; Fiscal Year: 2009
    ..CFTR is one of -50 human ABC (ATP-binding cassette) proteins, many (like SUR, the surfonylurea receptor, or P-glycoprotein and MRP, the multidrug resistance related protein) involved in human ..
  43. REDUCING HIV INFECTION AMONG THE SERIOUSLY MENTALLY ILL
    Michael Carey; Fiscal Year: 2000
    ..Participants will be randomly assigned to (a) an HIV Risk Reduction program (HIV), (b) a Substance Use Reduction (SUR), or (c) a Standard Care (Control) Condition...
  44. Sulfonylurea KATP channels in vascular spasm
    Elizabeth McNally; Fiscal Year: 2009
    Potassium ATP (KATP) channels are composed of a sulfonylurea subunit, SUR1 or SUR2, and a pore forming potassium channel, Kir6.1 or Kir6.2...
  45. Novel Genetic Approaches to Structure and Function of M*
    Howard Shuman; Fiscal Year: 2002
    ..These include cystic fibrosis (CFTR); hyperinsulinemia hypoglycemia (SUR1), macular degeneration (ABCR); adrenoleukodystrophy (ALDP); and multiple drug resistance in tumors (P-glycoprotein, ..
  46. CEREBROVASCULAR ION CHANNELS IN HYPERTENSION
    J Marc Simard; Fiscal Year: 2007
    ..abstract_text> ..
  47. PATHOPHYSIOLOGY OF NICOTINE IN CEREBRAL BLOOD VESSELS
    J Simard; Fiscal Year: 2004
    ....
  48. Reactive astrocytes from gliotic capsule
    J Marc Simard; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  49. TRANSGENIC MOUSE MODEL FOR FAMILIAL HYPERINSULINISM
    Joseph Bryan; Fiscal Year: 2001
    The objective of this proposal is to understand how beta-cells couple metabolism to membrane activity using SUR1 null mice...
  50. INNATE INTRAEPITHELIAL DEFENSE AGAINST ORAL INFECTION
    MARK HERZBERG; Fiscal Year: 2006
    ..Aim 2: Regulate MRP8 (S100A8) and MRP14 (S100A9) expression in KB cells using an inducible mammalian expression system...
  51. SNARE REGULATION OF BCELL KCA--SUR POTENTIATES SECRETION
    Herbert Gaisano; Fiscal Year: 1999
    ..involves plasma membrane (PM) ion channels (L-type voltage-dependent Ca2+ channel, sulfonoylurea receptor- SUR/K/ATP, and K/Ca channels) and exocytotic proteins, collectively called SNAREs on the PM and insulin secretory ..
  52. SUR Transmembrane Domain in K(ATP) Channel Function
    Robert Harvey; Fiscal Year: 2006
    ..g. SUR1, SUR2), and (ii) an Inwardly rectifying potassium (j about) channel subunit (Kir6; e.g. Kir6.1, Kir6.2)...
  53. Function and Metabolic Properties of Toxic Neutrophils
    Charles McCall; Fiscal Year: 2004
    ..participate in repressing acute proinflammatory genes like IL-1beta and sustaining chronic inflammatory genes like MRP8/10...
  54. Role of Kir6.1 subunits of K+ channels in heart
    WILLIAM COETZEE; Fiscal Year: 2004
    ..of KATP channel revealed that KATP channels consist of pore-forming Kir6 subunits in association with regulatory SUR subunits. There are two Kir6 members (Kir6.1 and Kir6.2) - both are highly expressed in heart...
  55. ENTERIC INNERVATION AND ITS PANCREATIC PROJECTIONS
    Annette Kirchgessner; Fiscal Year: 2003
    ..We will determine whether enteric KATP channels are abnormal in KATP channel-deficient (SUR1-/-) mice, and whether this leads to abnormal glucose-induced reflexes...
  56. FASEB SUMMER RESEARCH CONFERENCE: TRANSPORT ATPASES
    Peter Pedersen; Fiscal Year: 2001
    ..including the NIGMS (all transport ATPases), NHBLI (calcium and sodium/potassium ATPases and ABCA 1), NIDDK (CFTR, SUR, proton/potassium, and copper ATPases), NCI (MDR /P-glycoprotein and MRP 1), and the NEI (ABCR)...
  57. FASEB SUMMER RESEARCH CONFERENCE--TRANSPORT ATPASES
    Peter Pedersen; Fiscal Year: 1999
    ..4) V-type ATPases, 5) ABC transporters: P-glycoproteins and related drug and metabolic transporters; 6) CFTR, SUR, and other NBF-TM6 proteins, and 7) Transport ATPases and disease...
  58. GLUCOKINASE GENE EXPRESSION IN PANCREATIC BETA CELL
    Mark Magnuson; Fiscal Year: 2005
    ..In Aim 2 we will establish true mouse models for PHHI and MODY-2 in order to correlate changes in enzyme kinetics with insuIin secretion and glucose homeostasis...
  59. Function of ATP-sensitive Potassium Channels
    Joseph Bryan; Fiscal Year: 2006
    ..To help understand the ionic path, we cloned and expressed the high-affinity sulfonylurea receptor, SUR1, the regulatory subunit of Beta-cell SUR1/klR6.2 KATP channels. Mutations in SUR1 and KIR6...
  60. TRAFFICKING SIGNALS ON KATP CHANNELS SUBUNITS
    Lydia Aguilar Bryan; Fiscal Year: 2004
    ..these two sets of signals act as a quality control mechanism to insure that only completely assembled channels, (SUR1/KIR6.2)4, with both nucleotide-binding folds intact reach the cell surface...
  61. Contextual modulation of orientation specificity in V1
    David Lyon; Fiscal Year: 2004
    ..Previous work from the Sur lab and others has shown that the direction of the modulation depends on the orientation of the surround and the ..
  62. GENES OF PANCREAS FUNCTION AND DEVELOPMENT
    Mark Magnuson; Fiscal Year: 2000
    ..Project 2 (Magnuson) will determine the functional consequences of the lack of the type 1 sulfonylurea receptor (Sur1) on beta cell function and islet morphology...