1. Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies.

    BMC Endocrine Disorders 10:16 (2010) PMID 20863361 PMCID PMC2955624

    To investigate disease progression the first 12 months after diagnosis in children with type 1 diabetes negative (AAB negative) for pancreatic autoantibodies [islet cell autoantibodies(ICA), glutamic acid decarboxylase antibodies (GADA) and insulinoma-associated antigen-2 antibodies (IA-2A)]. Fu...
  2. Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies.

    BMC Endocrine Disorders 10:16 (2010) PMID 20863361 PMCID PMC2955624

    To investigate disease progression the first 12 months after diagnosis in children with type 1 diabetes negative (AAB negative) for pancreatic autoantibodies [islet cell autoantibodies(ICA), glutamic acid decarboxylase antibodies (GADA) and insulinoma-associated antigen-2 antibodies (IA-2A)]. Fu...
  3. Introduction. The blurred boundary between channels and transporters.

    Philosophical Transactions of the Royal Society... 364(1514):145 (2009) PMID 18957372

  4. Introduction. The blurred boundary between channels and transporters.

    Philosophical Transactions of the Royal Society... 364(1514):145 (2009) PMID 18957372

  5. Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.

    Nephron Physiology 112(4):p53 (2009) PMID 19546591

    Dent's disease is caused by mutations in the chloride/proton antiporter, CLC-5, or oculo-cerebro-renal-syndrome-of-Lowe (OCRL1) genes. Eighteen probands with Dent's disease were investigated for mutations in CLC-5 and two of its interacting proteins, CLC-4 and cofilin. Wild-type and mutant CLC-5...
  6. Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.

    Nephron Physiology 112(4):p53 (2009) PMID 19546591

    Dent's disease is caused by mutations in the chloride/proton antiporter, CLC-5, or oculo-cerebro-renal-syndrome-of-Lowe (OCRL1) genes. Eighteen probands with Dent's disease were investigated for mutations in CLC-5 and two of its interacting proteins, CLC-4 and cofilin. Wild-type and mutant CLC-5...
  7. Direct visualization of KirBac3.1 potassium channel gating by atomic force microscopy.

    Journal of Molecular Biology 374(2):500 (2007) PMID 17936299

    KirBac3.1 belongs to a family of transmembrane potassium (K(+)) channels that permit the selective flow of K-ions across biological membranes and thereby regulate cell excitability. They are crucial for a wide range of biological processes and mutations in their genes cause multiple human diseas...
  8. Direct visualization of KirBac3.1 potassium channel gating by atomic force microscopy.

    Journal of Molecular Biology 374(2):500 (2007) PMID 17936299

    KirBac3.1 belongs to a family of transmembrane potassium (K(+)) channels that permit the selective flow of K-ions across biological membranes and thereby regulate cell excitability. They are crucial for a wide range of biological processes and mutations in their genes cause multiple human diseas...
  9. Long-term exposure to glucose and lipids inhibits glucose-induced insulin secretion downstream of granule fusion with plasma membrane.

    Diabetes 56(7):1888 (2007) PMID 17456851

    Mouse beta-cells cultured at 15 mmol/l glucose for 72 h had reduced ATP-sensitive K+ (K(ATP)) channel activity (-30%), increased voltage-gated Ca2+ currents, higher intracellular free Ca2+ concentration ([Ca2+]i; +160%), more exocytosis (monitored by capacitance measurements, +100%), and greater...
  10. Long-term exposure to glucose and lipids inhibits glucose-induced insulin secretion downstream of granule fusion with plasma membrane.

    Diabetes 56(7):1888 (2007) PMID 17456851

    Mouse beta-cells cultured at 15 mmol/l glucose for 72 h had reduced ATP-sensitive K+ (K(ATP)) channel activity (-30%), increased voltage-gated Ca2+ currents, higher intracellular free Ca2+ concentration ([Ca2+]i; +160%), more exocytosis (monitored by capacitance measurements, +100%), and greater...
  11. The Kir6.2-F333I mutation differentially modulates KATP channels composed of SUR1 or SUR2 subunits.

    Journal of Physiology 581(Pt 3):1259 (2007) PMID 17395632 PMCID PMC1976406

    Mutations in Kir6.2, the pore-forming subunit of the KATP channel, that reduce the ability of ATP to block the channel cause neonatal diabetes. The stimulatory effect of MgATP mediated by the regulatory sulphonylurea receptor (SUR) subunit of the channel may also be modified. We compared the eff...
  12. The Kir6.2-F333I mutation differentially modulates KATP channels composed of SUR1 or SUR2 subunits.

    Journal of Physiology 581(Pt 3):1259 (2007) PMID 17395632 PMCID PMC1976406

    Mutations in Kir6.2, the pore-forming subunit of the KATP channel, that reduce the ability of ATP to block the channel cause neonatal diabetes. The stimulatory effect of MgATP mediated by the regulatory sulphonylurea receptor (SUR) subunit of the channel may also be modified. We compared the eff...
  13. Direct Visualization of KirBac3.1 Potassium Channel Gating by Atomic Force Microscopy

    Journal of Molecular Biology 374(2):500 (2007)

    KirBac3.1 belongs to a family of transmembrane potassium (K +) channels that permit the selective flow of K-ions across biological membranes and thereby regulate cell excitability. They are crucial for a wide range of biological processes and mutations in their genes cause multiple hu...
  14. Direct Visualization of KirBac3.1 Potassium Channel Gating by Atomic Force Microscopy

    Journal of Molecular Biology 374(2):500 (2007)

    KirBac3.1 belongs to a family of transmembrane potassium (K +) channels that permit the selective flow of K-ions across biological membranes and thereby regulate cell excitability. They are crucial for a wide range of biological processes and mutations in their genes cause multiple hu...
  15. Metabolic regulation of the pancreatic beta-cell ATP-sensitive K+ channel: a pas de deux.

    Diabetes 53 Suppl 3:S113 (2004) PMID 15561898

    Closure of ATP-sensitive K+ channels (KATP channels) is a key step in glucose-stimulated insulin secretion. The precise mechanism(s) by which glucose metabolism regulates KATP channel activity, however, remains controversial. It is widely believed that the principal determinants are the intracel...
  16. Metabolic regulation of the pancreatic beta-cell ATP-sensitive K+ channel: a pas de deux.

    Diabetes 53 Suppl 3:S113 (2004) PMID 15561898

    Closure of ATP-sensitive K+ channels (KATP channels) is a key step in glucose-stimulated insulin secretion. The precise mechanism(s) by which glucose metabolism regulates KATP channel activity, however, remains controversial. It is widely believed that the principal determinants are the intracel...
  17. Type 2 diabetes mellitus: not quite exciting enough?

    Human Molecular Genetics 13 Spec No 1:R21 (2004) PMID 14734629

    Type 2 diabetes mellitus is a serious metabolic disease that afflicts around 5% of the population in Western societies and over 150 million people worldwide. It is characterized by elevation of the blood glucose concentration, usually presents in middle age, and is exacerbated by obesity. Both g...
  18. Type 2 diabetes mellitus: not quite exciting enough?

    Human Molecular Genetics 13 Spec No 1:R21 (2004) PMID 14734629

    Type 2 diabetes mellitus is a serious metabolic disease that afflicts around 5% of the population in Western societies and over 150 million people worldwide. It is characterized by elevation of the blood glucose concentration, usually presents in middle age, and is exacerbated by obesity. Both g...
  19. Sulfonylurea stimulation of insulin secretion.

    Diabetes 51 Suppl 3:S368 (2002) PMID 12475777

    Sulfonylureas are widely used to treat type 2 diabetes because they stimulate insulin secretion from pancreatic beta-cells. They primarily act by binding to the SUR subunit of the ATP-sensitive potassium (K(ATP)) channel and inducing channel closure. However, the channel is still able to open to...
  20. Sulfonylurea stimulation of insulin secretion.

    Diabetes 51 Suppl 3:S368 (2002) PMID 12475777

    Sulfonylureas are widely used to treat type 2 diabetes because they stimulate insulin secretion from pancreatic beta-cells. They primarily act by binding to the SUR subunit of the ATP-sensitive potassium (K(ATP)) channel and inducing channel closure. However, the channel is still able to open to...