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Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression.

Lin YW, Li A, Grasso V, Battaglia D, Crinò A, Colombo C, Barbetti F, Nichols CG.

PLoS One. 2013 May 7;8(5):e63758. doi: 10.1371/journal.pone.0063758. Print 2013.


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.


Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels.

Zhou Q, Garin I, Castaño L, Argente J, Muñoz-Calvo MT, Perez de Nanclares G, Shyng SL.

J Clin Endocrinol Metab. 2010 Dec;95(12):E473-8. doi: 10.1210/jc.2010-1231. Epub 2010 Sep 1.


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.


A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.

Proks P, Girard C, Haider S, Gloyn AL, Hattersley AT, Sansom MS, Ashcroft FM.

EMBO Rep. 2005 May;6(5):470-5.


A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F.

Neurology. 2007 Sep 25;69(13):1342-9. Epub 2007 Jul 25.


Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.

Proks P, Shimomura K, Craig TJ, Girard CA, Ashcroft FM.

Hum Mol Genet. 2007 Aug 15;16(16):2011-9. Epub 2007 Jun 21.


Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

Männikkö R, Jefferies C, Flanagan SE, Hattersley A, Ellard S, Ashcroft FM.

Hum Mol Genet. 2010 Mar 15;19(6):963-72. doi: 10.1093/hmg/ddp554. Epub 2009 Dec 18.


An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.

Craig TJ, Shimomura K, Holl RW, Flanagan SE, Ellard S, Ashcroft FM.

J Clin Endocrinol Metab. 2009 Jul;94(7):2551-7. doi: 10.1210/jc.2009-0159. Epub 2009 Apr 7.


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.


Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation.

Battaglia D, Lin YW, Brogna C, Crinò A, Grasso V, Mozzi AF, Russo L, Spera S, Colombo C, Ricci S, Nichols CG, Mercuri E, Barbetti F.

Pediatr Diabetes. 2012 Dec;13(8):656-60. doi: 10.1111/j.1399-5448.2012.00874.x. Epub 2012 Jun 14.


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.


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.


The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.

Koster JC, Cadario F, Peruzzi C, Colombo C, Nichols CG, Barbetti F.

J Clin Endocrinol Metab. 2008 Mar;93(3):1054-61. Epub 2007 Dec 11.


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.


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.


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.

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