Published in Nat Clin Pract Neurol on November 01, 2007
Neonatal diabetes mellitus. Endocr Rev (2008) 2.64
The role of the KATP channel in glucose homeostasis in health and disease: more than meets the islet. J Physiol (2010) 1.55
Neonatal diabetes mellitus: a model for personalized medicine. Trends Endocrinol Metab (2010) 1.18
Many faces of monogenic diabetes. J Diabetes Investig (2014) 0.89
DEND mutation in Kir6.2 (KCNJ11) reveals a flexible N-terminal region critical for ATP-sensing of the KATP channel. Biophys J (2008) 0.89
Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas. Diabetes Care (2012) 0.88
Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation. Pediatr Diabetes (2012) 0.84
A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated. J Physiol (2011) 0.84
Monogenic models: what have the single gene disorders taught us? Curr Diab Rep (2012) 0.83
Carbamazepine inhibits ATP-sensitive potassium channel activity by disrupting channel response to MgADP. Channels (Austin) (2014) 0.82
Metabolic causes of epileptic encephalopathy. Epilepsy Res Treat (2013) 0.81
Reevaluation of a case of type 1 diabetes mellitus diagnosed before 6 months of age. Nat Rev Endocrinol (2010) 0.81
K(ATP) channelopathies in the pancreas. Pflugers Arch (2009) 0.78
Systemic Administration of Glibenclamide Fails to Achieve Therapeutic Levels in the Brain and Cerebrospinal Fluid of Rodents. PLoS One (2015) 0.78
Database search of spontaneous reports and pharmacological investigations on the sulfonylureas and glinides-induced atrophy in skeletal muscle. Pharmacol Res Perspect (2014) 0.77
Switching to sulphonylureas in children with iDEND syndrome caused by KCNJ11 mutations results in improved cerebellar perfusion. Diabetes Care (2013) 0.76
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia (2016) 0.76
Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking. PLoS One (2013) 0.75
New insights from monogenic diabetes for "common" type 2 diabetes. Front Genet (2015) 0.75
The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes. Pharmgenomics Pers Med (2010) 0.75
The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase. Science (2007) 9.86
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med (2004) 8.62
Crystal structure of the potassium channel KirBac1.1 in the closed state. Science (2003) 7.46
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med (2006) 7.31
Overexpression of Fto leads to increased food intake and results in obesity. Nat Genet (2010) 4.37
Insulin action in AgRP-expressing neurons is required for suppression of hepatic glucose production. Cell Metab (2007) 3.69
Control of pancreatic β cell regeneration by glucose metabolism. Cell Metab (2011) 3.35
Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes (2005) 2.95
Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variants. Diabetes (2009) 2.92
PPAR gamma 2 prevents lipotoxicity by controlling adipose tissue expandability and peripheral lipid metabolism. PLoS Genet (2007) 2.91
A mouse model for the metabolic effects of the human fat mass and obesity associated FTO gene. PLoS Genet (2009) 2.68
Enhanced PIP3 signaling in POMC neurons causes KATP channel activation and leads to diet-sensitive obesity. J Clin Invest (2006) 2.38
Nicotinamide nucleotide transhydrogenase: a key role in insulin secretion. Cell Metab (2006) 2.21
Deletion of nicotinamide nucleotide transhydrogenase: a new quantitive trait locus accounting for glucose intolerance in C57BL/6J mice. Diabetes (2006) 2.17
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. Lancet (2003) 2.02
TCF7L2 regulates late events in insulin secretion from pancreatic islet beta-cells. Diabetes (2009) 1.90
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet (2006) 1.83
Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit. EMBO J (2005) 1.79
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet (2007) 1.73
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci U S A (2004) 1.72
3-D structural and functional characterization of the purified KATP channel complex Kir6.2-SUR1. EMBO J (2005) 1.66
The role of the KATP channel in glucose homeostasis in health and disease: more than meets the islet. J Physiol (2010) 1.55
Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet (2005) 1.52
Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes. J Clin Invest (2008) 1.50
Review. SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator. Philos Trans R Soc Lond B Biol Sci (2009) 1.47
Identification of the PIP2-binding site on Kir6.2 by molecular modelling and functional analysis. EMBO J (2007) 1.41
PIP(2)-binding site in Kir channels: definition by multiscale biomolecular simulations. Biochemistry (2009) 1.40
PVHL is a regulator of glucose metabolism and insulin secretion in pancreatic beta cells. Genes Dev (2008) 1.38
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep (2005) 1.32
Adult onset global loss of the fto gene alters body composition and metabolism in the mouse. PLoS Genet (2013) 1.31
Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin. Science (2010) 1.31
Studies of the ATPase activity of the ABC protein SUR1. FEBS J (2007) 1.28
Chronic palmitate exposure inhibits insulin secretion by dissociation of Ca(2+) channels from secretory granules. Cell Metab (2009) 1.26
Selective loss of fine tuning of Gq/11 signaling by RGS2 protein exacerbates cardiomyocyte hypertrophy. J Biol Chem (2005) 1.25
Role for the obesity-related FTO gene in the cellular sensing of amino acids. Proc Natl Acad Sci U S A (2013) 1.24
Identification of residues contributing to the ATP binding site of Kir6.2. EMBO J (2003) 1.22
LKB1 deletion with the RIP2.Cre transgene modifies pancreatic beta-cell morphology and enhances insulin secretion in vivo. Am J Physiol Endocrinol Metab (2010) 1.21
The ligand-sensitive gate of a potassium channel lies close to the selectivity filter. EMBO Rep (2003) 1.20
Role of KATP channels in glucose-regulated glucagon secretion and impaired counterregulation in type 2 diabetes. Cell Metab (2013) 1.18
Structure of a KirBac potassium channel with an open bundle crossing indicates a mechanism of channel gating. Nat Struct Mol Biol (2012) 1.18
Filter flexibility in a mammalian K channel: models and simulations of Kir6.2 mutants. Biophys J (2003) 1.17
Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP. Hum Mol Genet (2005) 1.17
Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome. Hum Mol Genet (2007) 1.14
Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention. Diabetes (2009) 1.14
Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses. Mol Genet Metab (2006) 1.14
Evaluation of the analytical performance of the coulometry-based Optium Omega blood glucose meter. J Diabetes Sci Technol (2011) 1.13
R-type Ca(2+)-channel-evoked CICR regulates glucose-induced somatostatin secretion. Nat Cell Biol (2007) 1.12
Orexin excites GABAergic neurons of the arcuate nucleus by activating the sodium--calcium exchanger. J Neurosci (2003) 1.12
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. Proc Natl Acad Sci U S A (2007) 1.11
Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes. Pflugers Arch (2006) 1.09
Scavenging of 14-3-3 proteins reveals their involvement in the cell-surface transport of ATP-sensitive K+ channels. J Cell Sci (2006) 1.08
Cholecystokinin tunes firing of an electrically distinct subset of arcuate nucleus neurons by activating A-Type potassium channels. J Neurosci (2002) 1.08
Imaging dynamic insulin release using a fluorescent zinc indicator for monitoring induced exocytotic release (ZIMIR). Proc Natl Acad Sci U S A (2011) 1.08
Potassium channel regulation. EMBO Rep (2003) 1.07
CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease. Am J Physiol Renal Physiol (2009) 1.06
Retracted Glucagon-like peptide 1 stimulates hypothalamic proopiomelanocortin neurons. J Neurosci (2007) 1.06
Efficacy and safety of sulfonylurea use in permanent neonatal diabetes due to KCNJ11 gene mutations: 34-month median follow-up. Diabetes Technol Ther (2010) 1.03
Electrical inhibition of identified anorexigenic POMC neurons by orexin/hypocretin. J Neurosci (2007) 1.03
Modeling K(ATP) channel gating and its regulation. Prog Biophys Mol Biol (2008) 1.03
FTO is expressed in neurones throughout the brain and its expression is unaltered by fasting. PLoS One (2011) 1.02
The cross-reactivity of anti-asparaginase antibodies against different L-asparaginase preparations. Clin Exp Med (2009) 1.02
A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta-cells. Diabetes (2006) 1.01
PLA2R1 mediates tumor suppression by activating JAK2. Cancer Res (2013) 1.01
Focus on Kir6.2: a key component of the ATP-sensitive potassium channel. J Mol Cell Cardiol (2005) 1.00
ATP-dependent interaction of the cytosolic domains of the inwardly rectifying K+ channel Kir6.2 revealed by fluorescence resonance energy transfer. Proc Natl Acad Sci U S A (2003) 0.99
Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. EMBO J (2005) 0.98
Clinical application of 1,5-anhydroglucitol measurements in patients with hepatocyte nuclear factor-1alpha maturity-onset diabetes of the young. Diabetes Care (2008) 0.98
Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy. Diabetes (2006) 0.98
Conformational dynamics of the ligand-binding domain of inward rectifier K channels as revealed by molecular dynamics simulations: toward an understanding of Kir channel gating. Biophys J (2005) 0.98
ATP sensitivity of the ATP-sensitive K+ channel in intact and permeabilized pancreatic beta-cells. Diabetes (2006) 0.98
A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes. EMBO Rep (2008) 0.97
How ATP inhibits the open K(ATP) channel. J Gen Physiol (2008) 0.97
Asymmetric switching in a homodimeric ABC transporter: a simulation study. PLoS Comput Biol (2010) 0.97
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism. EMBO Mol Med (2009) 0.97
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. Diabetes (2006) 0.96
Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: evidence for improvement in insulin sensitivity. Diabetes Care (2007) 0.96
Renal malformations may be linked to mutations in the hepatocyte nuclear factor-1alpha (MODY3) gene. Diabetes Care (2005) 0.96
Molecular mechanism of sulphonylurea block of K(ATP) channels carrying mutations that impair ATP inhibition and cause neonatal diabetes. Diabetes (2013) 0.96
Molecular dynamics simulations of inwardly rectifying (Kir) potassium channels: a comparative study. Biochemistry (2007) 0.95
Role of the transcription factor sox4 in insulin secretion and impaired glucose tolerance. Diabetes (2008) 0.95
Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels. J Physiol (2005) 0.95
The first case report of sulfonylurea use in a woman with permanent neonatal diabetes mellitus due to KCNJ11 mutation during a high-risk pregnancy. J Clin Endocrinol Metab (2010) 0.94
Genetic modifiers of the age at diagnosis of diabetes (MODY3) in carriers of hepatocyte nuclear factor-1alpha mutations map to chromosomes 5p15, 9q22, and 14q24. Diabetes (2003) 0.94
The effect of hematocrit on the results of measurements using glucose meters based on different techniques. Clin Chem Lab Med (2011) 0.93
Differential interactions of nateglinide and repaglinide on the human beta-cell sulphonylurea receptor 1. Diabetes (2002) 0.93
Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect. Diabetes Care (2002) 0.92
Evaluation of Apolipoprotein M Serum Concentration as a Biomarker of HNF-1alpha MODY. Rev Diabet Stud (2008) 0.92