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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

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

Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.

Cartier EA, Conti LR, Vandenberg CA, Shyng SL.

Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2882-7.PMID: 11226335 [PubMed - indexed for MEDLINE]Related articlesFree article

ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures.

Darendeliler F, Fournet JC, Baş F, Junien C, Gross MS, Bundak R, Saka N, Günöz H.

J Pediatr Endocrinol Metab. 2002 Jul-Aug;15(7):993-1000.PMID: 12199344 [PubMed - indexed for MEDLINE]Related articles

Characterisation of new KATP-channel mutations associated with congenital hyperinsulinism in the Finnish population.

Reimann F, Huopio H, Dabrowski M, Proks P, Gribble FM, Laakso M, Otonkoski T, Ashcroft FM.

Diabetologia. 2003 Feb;46(2):241-9. Epub 2003 Jan 9. Erratum in: Diabetologia. 2004 Jan;47(1):155. PMID: 12627323 [PubMed - indexed for MEDLINE]Related articles

Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.

Taschenberger G, Mougey A, Shen S, Lester LB, LaFranchi S, Shyng SL.

J Biol Chem. 2002 May 10;277(19):17139-46. Epub 2002 Feb 26.PMID: 11867634 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.

Shyng SL, Ferrigni T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, Nichols CG.

Diabetes. 1998 Jul;47(7):1145-51.PMID: 9648840 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism.

Partridge CJ, Beech DJ, Sivaprasadarao A.

J Biol Chem. 2001 Sep 21;276(38):35947-52. Epub 2001 Jul 16.PMID: 11457841 [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

Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.

Marthinet E, Bloc A, Oka Y, Tanizawa Y, Wehrle-Haller B, Bancila V, Dubuis JM, Philippe J, Schwitzgebel VM.

J Clin Endocrinol Metab. 2005 Sep;90(9):5401-6. Epub 2005 Jul 5.PMID: 15998776 [PubMed - indexed for MEDLINE]Related articlesFree article

Sulfonylureas correct trafficking defects of ATP-sensitive potassium channels caused by mutations in the sulfonylurea receptor.

Yan F, Lin CW, Weisiger E, Cartier EA, Taschenberger G, Shyng SL.

J Biol Chem. 2004 Mar 19;279(12):11096-105. Epub 2004 Jan 5.PMID: 14707124 [PubMed - indexed for MEDLINE]Related articlesFree article

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

Tornovsky S, Crane A, Cosgrove KE, Hussain K, Lavie J, Heyman M, Nesher Y, Kuchinski N, Ben-Shushan E, Shatz O, Nahari E, Potikha T, Zangen D, Tenenbaum-Rakover Y, de Vries L, Argente J, Gracia R, Landau H, Eliakim A, Lindley K, Dunne MJ, Aguilar-Bryan L, Glaser B.

J Clin Endocrinol Metab. 2004 Dec;89(12):6224-34.PMID: 15579781 [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

Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.

Tanizawa Y, Matsuda K, Matsuo M, Ohta Y, Ochi N, Adachi M, Koga M, Mizuno S, Kajita M, Tanaka Y, Tachibana K, Inoue H, Furukawa S, Amachi T, Ueda K, Oka Y.

Diabetes. 2000 Jan;49(1):114-20.PMID: 10615958 [PubMed - indexed for MEDLINE]Related articlesFree article

Sulfonylureas correct trafficking defects of disease-causing ATP-sensitive potassium channels by binding to the channel complex.

Yan FF, Casey J, Shyng SL.

J Biol Chem. 2006 Nov 3;281(44):33403-13. Epub 2006 Sep 6.PMID: 16956886 [PubMed - indexed for MEDLINE]Related articlesFree article

Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

Huopio H, Reimann F, Ashfield R, Komulainen J, Lenko HL, Rahier J, Vauhkonen I, Kere J, Laakso M, Ashcroft F, Otonkoski T.

J Clin Invest. 2000 Oct;106(7):897-906.PMID: 11018078 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy.

Matsuo M, Trapp S, Tanizawa Y, Kioka N, Amachi T, Oka Y, Ashcroft FM, Ueda K.

J Biol Chem. 2000 Dec 29;275(52):41184-91.PMID: 10993895 [PubMed - indexed for MEDLINE]Related articlesFree article

Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.

Lin YW, Bushman JD, Yan FF, Haidar S, MacMullen C, Ganguly A, Stanley CA, Shyng SL.

J Biol Chem. 2008 Apr 4;283(14):9146-56. Epub 2008 Feb 4.PMID: 18250167 [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

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

Henwood MJ, Kelly A, Macmullen C, Bhatia P, Ganguly A, Thornton PS, Stanley CA.

J Clin Endocrinol Metab. 2005 Feb;90(2):789-94. Epub 2004 Nov 23.PMID: 15562009 [PubMed - indexed for MEDLINE]Related articlesFree article