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Items: 1 to 20 of 214

1.

The ATP-sensitive K(+) channel ABCC8 S1369A type 2 diabetes risk variant increases MgATPase activity.

Fatehi M, Raja M, Carter C, Soliman D, Holt A, Light PE.

Diabetes. 2012 Jan;61(1):241-9. doi: 10.2337/db11-0371.

2.

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.

Hamming KS, Soliman D, Matemisz LC, Niazi O, Lang Y, Gloyn AL, Light PE.

Diabetes. 2009 Oct;58(10):2419-24. doi: 10.2337/db09-0143. Epub 2009 Jul 8.

3.

Pharmacogenomic analysis of ATP-sensitive potassium channels coexpressing the common type 2 diabetes risk variants E23K and S1369A.

Lang VY, Fatehi M, Light PE.

Pharmacogenet Genomics. 2012 Mar;22(3):206-14. doi: 10.1097/FPC.0b013e32835001e7.

PMID:
22209866
4.

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes.

de Wet H, Rees MG, Shimomura K, Aittoniemi J, Patch AM, Flanagan SE, Ellard S, Hattersley AT, Sansom MS, Ashcroft FM.

Proc Natl Acad Sci U S A. 2007 Nov 27;104(48):18988-92. Epub 2007 Nov 19.

5.

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.

Edghill EL, Flanagan SE, Ellard S.

Rev Endocr Metab Disord. 2010 Sep;11(3):193-8. doi: 10.1007/s11154-010-9149-x. Review.

PMID:
20922570
6.

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.

Tarasov AI, Nicolson TJ, Riveline JP, Taneja TK, Baldwin SA, Baldwin JM, Charpentier G, Gautier JF, Froguel P, Vaxillaire M, Rutter GA.

Diabetes. 2008 Jun;57(6):1595-604. doi: 10.2337/db07-1547. Epub 2008 Mar 17.

7.

N-terminal transmembrane domain of SUR1 controls gating of Kir6.2 by modulating channel sensitivity to PIP2.

Pratt EB, Tewson P, Bruederle CE, Skach WR, Shyng SL.

J Gen Physiol. 2011 Mar;137(3):299-314. doi: 10.1085/jgp.201010557. Epub 2011 Feb 14.

8.

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.

Männikkö R, Flanagan SE, Sim X, Segal D, Hussain K, Ellard S, Hattersley AT, Ashcroft FM.

Diabetes. 2011 Jun;60(6):1813-22. doi: 10.2337/db10-1583.

9.

A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes.

de Wet H, Proks P, Lafond M, Aittoniemi J, Sansom MS, Flanagan SE, Pearson ER, Hattersley AT, Ashcroft FM.

EMBO Rep. 2008 Jul;9(7):648-54. doi: 10.1038/embor.2008.71. Epub 2008 May 23.

10.

Differential structure of atrial and ventricular KATP: atrial KATP channels require SUR1.

Flagg TP, Kurata HT, Masia R, Caputa G, Magnuson MA, Lefer DJ, Coetzee WA, Nichols CG.

Circ Res. 2008 Dec 5;103(12):1458-65. doi: 10.1161/CIRCRESAHA.108.178186. Epub 2008 Oct 30.

11.

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S.

Hum Mol Genet. 2006 Jun 1;15(11):1793-800. Epub 2006 Apr 13.

PMID:
16613899
12.

Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1.

Winkler M, Lutz R, Russ U, Quast U, Bryan J.

J Biol Chem. 2009 Mar 13;284(11):6752-62. doi: 10.1074/jbc.M805435200. Epub 2009 Jan 12.

13.

Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic K(ATP) channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits.

Lin YW, Akrouh A, Hsu Y, Hughes N, Nichols CG, De León DD.

Channels (Austin). 2012 Mar-Apr;6(2):133-8. doi: 10.4161/chan.19980. Epub 2012 Mar 1.

14.

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.

Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM.

Diabetes. 2003 Feb;52(2):568-72.

15.

Mechanism of KATP hyperactivity and sulfonylurea tolerance due to a diabetogenic mutation in L0 helix of sulfonylurea receptor 1 (ABCC8).

Babenko AP, Vaxillaire M.

FEBS Lett. 2011 Nov 16;585(22):3555-9. doi: 10.1016/j.febslet.2011.10.020. Epub 2011 Oct 19.

16.

The mechano-sensitivity of cardiac ATP-sensitive potassium channels is mediated by intrinsic MgATPase activity.

Fatehi M, Carter CC, Youssef N, Light PE.

J Mol Cell Cardiol. 2017 Jul;108:34-41. doi: 10.1016/j.yjmcc.2017.05.004. Epub 2017 May 5.

PMID:
28483598
17.

Regulation of KATP channel expression and activity by the SUR1 nucleotide binding fold 1.

Masia R, Caputa G, Nichols CG.

Channels (Austin). 2007 Jul-Aug;1(4):315-23. Epub 2007 Sep 25.

PMID:
18708750
18.

Differential nucleotide regulation of KATP channels by SUR1 and SUR2A.

Masia R, Enkvetchakul D, Nichols CG.

J Mol Cell Cardiol. 2005 Sep;39(3):491-501.

PMID:
15893323
19.
20.

Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region.

Florez JC, Burtt N, de Bakker PI, Almgren P, Tuomi T, Holmkvist J, Gaudet D, Hudson TJ, Schaffner SF, Daly MJ, Hirschhorn JN, Groop L, Altshuler D.

Diabetes. 2004 May;53(5):1360-8.

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