PubMed

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. Epub 2008 Mar 17.PMID: 18346985 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articlesFree article

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. Epub 2009 Jul 8.PMID: 19587354 [PubMed - indexed for MEDLINE]Related articles

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

Babenko AP, Polak M, Cavé H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P.

N Engl J Med. 2006 Aug 3;355(5):456-66.PMID: 16885549 [PubMed - indexed for MEDLINE]Related articlesFree article

Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.

Pratt EB, Yan FF, Gay JW, Stanley CA, Shyng SL.

J Biol Chem. 2009 Mar 20;284(12):7951-9. Epub 2009 Jan 16.PMID: 19151370 [PubMed - indexed for MEDLINE]Related articles

Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences.

Flechtner I, Vaxillaire M, Cavé H, Scharfmann R, Froguel P, Polak M.

Endocr Dev. 2007;12:86-98.PMID: 17923772 [PubMed - indexed for MEDLINE]Related articles

A cytosolic factor that inhibits KATP channels expressed in Xenopus oocytes by impairing Mg-nucleotide activation by SUR1.

Tammaro P, Ashcroft FM.

J Physiol. 2009 Apr 15;587(Pt 8):1649-56. Epub 2009 Feb 23.PMID: 19237428 [PubMed - indexed for MEDLINE]Related articles

Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels.

Tammaro P, Proks P, Ashcroft FM.

J Physiol. 2006 Feb 15;571(Pt 1):3-14. Epub 2005 Dec 8.PMID: 16339180 [PubMed - indexed for MEDLINE]Related articlesFree article

A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).

Masia R, De Leon DD, MacMullen C, McKnight H, Stanley CA, Nichols CG.

Diabetes. 2007 May;56(5):1357-62. Epub 2007 Feb 22.PMID: 17317760 [PubMed - indexed for MEDLINE]Related articlesFree article

Iptakalim, a vascular ATP-sensitive potassium (KATP) channel opener, closes rat pancreatic beta-cell KATP channels and increases insulin release.

Misaki N, Mao X, Lin YF, Suga S, Li GH, Liu Q, Chang Y, Wang H, Wakui M, Wu J.

J Pharmacol Exp Ther. 2007 Aug;322(2):871-8. Epub 2007 May 23.PMID: 17522344 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S.

Hum Mutat. 2009 Feb;30(2):170-80. Review.PMID: 18767144 [PubMed - indexed for MEDLINE]Related articles

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Gloyn AL, Siddiqui J, Ellard S.

Hum Mutat. 2006 Mar;27(3):220-31. Review.PMID: 16416420 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2009 Jan 12.PMID: 19139106 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 18025464 [PubMed - indexed for MEDLINE]Related articlesFree article

Sulfonylurea receptors type 1 and 2A randomly assemble to form heteromeric KATP channels of mixed subunit composition.

Chan KW, Wheeler A, Csanády L.

J Gen Physiol. 2008 Jan;131(1):43-58. Epub 2007 Dec 17.PMID: 18079561 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

Girard CA, Shimomura K, Proks P, Absalom N, Castano L, Perez de Nanclares G, Ashcroft FM.

Pflugers Arch. 2006 Dec;453(3):323-32. Epub 2006 Sep 22.PMID: 17021801 [PubMed - indexed for MEDLINE]Related articles

The Kir6.2-F333I mutation differentially modulates KATP channels composed of SUR1 or SUR2 subunits.

Tammaro P, Ashcroft F.

J Physiol. 2007 Jun 15;581(Pt 3):1259-69. Epub 2007 Mar 29.PMID: 17395632 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA.

J Clin Invest. 2008 Aug;118(8):2877-86.PMID: 18596924 [PubMed - indexed for MEDLINE]Related articlesFree article

Carriers of an inactivating beta-cell ATP-sensitive K(+) channel mutation have normal glucose tolerance and insulin sensitivity and appropriate insulin secretion.

Huopio H, Vauhkonen I, Komulainen J, Niskanen L, Otonkoski T, Laakso M.

Diabetes Care. 2002 Jan;25(1):101-6.PMID: 11772909 [PubMed - indexed for MEDLINE]Related articlesFree article

Diverse roles of K(ATP) channels learned from Kir6.2 genetically engineered mice.

Seino S, Iwanaga T, Nagashima K, Miki T.

Diabetes. 2000 Mar;49(3):311-8. Review.PMID: 10868950 [PubMed - indexed for MEDLINE]Related articlesFree article