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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
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
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.
Masia R, Koster JC, Tumini S, Chiarelli F, Colombo C, Nichols CG, Barbetti F.
Diabetes. 2007 Feb;56(2):328-36.PMID: 17259376 [PubMed - indexed for MEDLINE]Related articlesFree article
The N-terminal transmembrane domain (TMD0) and a cytosolic linker (L0) of sulphonylurea receptor define the unique intrinsic gating of KATP channels.
Fang K, Csanády L, Chan KW.
J Physiol. 2006 Oct 15;576(Pt 2):379-89. Epub 2006 Aug 3.PMID: 16887879 [PubMed - indexed for MEDLINE]Related articlesFree article
Kir6.2 mutations associated with neonatal diabetes reduce expression of ATP-sensitive K+ channels: implications in disease mechanism and sulfonylurea therapy.
Lin CW, Lin YW, Yan FF, Casey J, Kochhar M, Pratt EB, Shyng SL.
Diabetes. 2006 Jun;55(6):1738-46.PMID: 16731837 [PubMed - indexed for MEDLINE]Related articlesFree article
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
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM.
Proc Natl Acad Sci U S A. 2004 Dec 14;101(50):17539-44. Epub 2004 Dec 6.PMID: 15583126 [PubMed - indexed for MEDLINE]Related articlesFree article
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
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 [PubMed - indexed for MEDLINE]Related articles
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.
Rafiq M, Flanagan SE, Patch AM, Shields BM, Ellard S, Hattersley AT; Neonatal Diabetes International Collaborative Group.
Diabetes Care. 2008 Feb;31(2):204-9. Epub 2007 Nov 19.PMID: 18025408 [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
Resveratrol binds to the sulfonylurea receptor (SUR) and induces apoptosis in a SUR subtype-specific manner.
Hambrock A, de Oliveira Franz CB, Hiller S, Grenz A, Ackermann S, Schulze DU, Drews G, Osswald H.
J Biol Chem. 2007 Feb 2;282(5):3347-56. Epub 2006 Nov 30.PMID: 17138562 [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
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.
Yan FF, Lin YW, MacMullen C, Ganguly A, Stanley CA, Shyng SL.
Diabetes. 2007 Sep;56(9):2339-48. Epub 2007 Jun 15.PMID: 17575084 [PubMed - indexed for MEDLINE]Related articlesFree article
New ABCC8 mutations in relapsing neonatal diabetes and clinical features.
Vaxillaire M, Dechaume A, Busiah K, Cavé H, Pereira S, Scharfmann R, de Nanclares GP, Castano L, Froguel P, Polak M; SUR1-Neonatal Diabetes Study Group.
Diabetes. 2007 Jun;56(6):1737-41. Epub 2007 Mar 27.PMID: 17389331 [PubMed - indexed for MEDLINE]Related articlesFree article
A novel ABCC8 (SUR1)-dependent mechanism of metabolism-excitation uncoupling.
Babenko AP.
J Biol Chem. 2008 Apr 4;283(14):8778-82. Epub 2008 Feb 15.PMID: 18281290 [PubMed - indexed for MEDLINE]Related articlesFree article
Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM.
Ohta Y, Tanizawa Y, Inoue H, Hosaka T, Ueda K, Matsutani A, Repunte VP, Yamada M, Kurachi Y, Bryan J, Aguilar-Bryan L, Permutt MA, Oka Y.
Diabetes. 1998 Mar;47(3):476-81.PMID: 9519757 [PubMed - indexed for MEDLINE]Related articlesFree article
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 [PubMed - indexed for MEDLINE]Related articles
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