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

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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 is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.2337/DB10-1583
P932PMC publication ID3114383
P698PubMed publication ID21617188
P5875ResearchGate publication ID51169592

P50authorAndrew Tym HattersleyQ21165208
Frances AshcroftQ5478504
Roope MannikkoQ59554478
Sian EllardQ58327173
Sarah FlanaganQ59543609
P2093author name stringKhalid Hussain
David Segal
Xiuli Sim
P2860cites workThe G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapyQ24302959
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetesQ24338339
The essential role of the Walker A motifs of SUR1 in K-ATP channel activation by Mg-ADP and diazoxideQ24532117
A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetesQ24656945
Activating mutations in the ABCC8 gene in neonatal diabetes mellitusQ27863930
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutationsQ27865219
Potassium channel regulationQ28181292
Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptorQ28237709
Glucose induces closure of single potassium channels in isolated rat pancreatic beta-cellsQ28259615
KATP channels as molecular sensors of cellular metabolismQ28303315
Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal DiabetesQ29027344
Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretionQ34308492
Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or AdulthoodQ64355396
Dual effects of ATP on K+ currents of mouse pancreatic beta-cellsQ68989436
Association and stoichiometry of K(ATP) channel subunitsQ73413932
3-D structural and functional characterization of the purified KATP channel complex Kir6.2-SUR1.Q34324901
Adenosine diphosphate as an intracellular regulator of insulin secretion.Q34382672
Sulphonylurea action revisited: the post-cloning era.Q35159821
Roles of KATP channels as metabolic sensors in acute metabolic changesQ36135755
Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapyQ36241098
Regulation of KATP channel activity by diazoxide and MgADP. Distinct functions of the two nucleotide binding folds of the sulfonylurea receptorQ36436008
MgATP activates the beta cell KATP channel by interaction with its SUR1 subunit.Q36515292
Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonatesQ36688366
KATP channel inhibition by ATP requires distinct functional domains of the cytoplasmic C terminus of the pore-forming subunitQ36815192
Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetesQ37036031
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.Q37270892
Review. SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator.Q37319861
New uses for old drugs: neonatal diabetes and sulphonylureasQ37701559
The role of the KATP channel in glucose homeostasis in health and disease: more than meets the isletQ37762333
Activation of the KATP channel by Mg-nucleotide interaction with SUR1Q41828735
Signaling in channel/enzyme multimers: ATPase transitions in SUR module gate ATP-sensitive K+ conductanceQ43705208
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.Q44297979
Role of carboxylate residues adjacent to the conserved core Walker B motifs in the catalytic cycle of multidrug resistance protein 1 (ABCC1).Q44527096
Properties of P-glycoprotein with mutations in the "catalytic carboxylate" glutamate residuesQ45028072
The Walter B. Cannon Physiology in Perspective Lecture, 2007. ATP-sensitive K+ channels and disease: from molecule to maladyQ48555497
Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.Q48788945
A novel method for measurement of submembrane ATP concentrationQ48887664
Properties of cloned ATP-sensitive K+ currents expressed in Xenopus oocytesQ48968120
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutationsQ50646471
Investigating the role of the invariant carboxylate residues E552 and E1197 in the catalytic activity of Abcb1a (mouse Mdr3).Q53476537
Different Binding Properties and Affinities for ATP and ADP among Sulfonylurea Receptor Subtypes, SUR1, SUR2A, and SUR2BQ58449725
P275copyright licenseCreative Commons Attribution-NonCommercial-NoDerivs 3.0 UnportedQ19125045
P6216copyright statuscopyrightedQ50423863
P433issue6
P407language of work or nameEnglishQ1860
P304page(s)1813-1822
P577publication date2011-06-01
P1433published inDiabetesQ895262
P1476titleMutations 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
P478volume60

Reverse relations

cites work (P2860)
Q37251122A mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1.
Q41247700A universally conserved residue in the SUR1 subunit of the KATP channel is essential for translating nucleotide binding at SUR1 into channel opening.
Q57818890Analysis the pathogenic gene of 60 Chinese children with congenital hyperinsulinemia
Q90429650Evidence that a catalytic glutamate and an 'Arginine Toggle' act in concert to mediate ATP hydrolysis and mechanochemical coupling in a viral DNA packaging motor
Q37722066Expression and function of ATP-dependent potassium channels in zebrafish islet β-cells.
Q34253535LDGIdb: a database of gene interactions inferred from long-range strong linkage disequilibrium between pairs of SNPs
Q39342397Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan
Q38861985Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8.
Q36960085Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes
Q38117598Neonatal Diabetes Caused by Activating Mutations in the Sulphonylurea Receptor
Q35427798Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADP
Q94592225New insights into KATP channel gene mutations and neonatal diabetes mellitus
Q41469020Reinterpreting the Action of ATP Analogs on KATP Channels

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