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Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

Cuesta-Muñoz AL, Huopio H, Otonkoski T, Gomez-Zumaquero JM, Näntö-Salonen K, Rahier J, López-Enriquez S, García-Gimeno MA, Sanz P, Soriguer FC, Laakso M.

Diabetes. 2004 Aug;53(8):2164-8.PMID: 15277402 [PubMed - indexed for MEDLINE]Related articlesFree article

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Gloyn AL.

Hum Mutat. 2003 Nov;22(5):353-62. Review.PMID: 14517946 [PubMed - indexed for MEDLINE]Related articles

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.

Gloyn AL, Noordam K, Willemsen MA, Ellard S, Lam WW, Campbell IW, Midgley P, Shiota C, Buettger C, Magnuson MA, Matschinsky FM, Hattersley AT.

Diabetes. 2003 Sep;52(9):2433-40.PMID: 12941786 [PubMed - indexed for MEDLINE]Related articlesFree article

Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.

Sayed S, Langdon DR, Odili S, Chen P, Buettger C, Schiffman AB, Suchi M, Taub R, Grimsby J, Matschinsky FM, Stanley CA.

Diabetes. 2009 Jun;58(6):1419-27. Epub 2009 Mar 31.PMID: 19336674 [PubMed - indexed for MEDLINE]Related articlesFree article

The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.

Christesen HB, Jacobsen BB, Odili S, Buettger C, Cuesta-Munoz A, Hansen T, Brusgaard K, Massa O, Magnuson MA, Shiota C, Matschinsky FM, Barbetti F.

Diabetes. 2002 Apr;51(4):1240-6.PMID: 11916951 [PubMed - indexed for MEDLINE]Related articlesFree article

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.

Gloyn AL, Odili S, Zelent D, Buettger C, Castleden HA, Steele AM, Stride A, Shiota C, Magnuson MA, Lorini R, d'Annunzio G, Stanley CA, Kwagh J, van Schaftingen E, Veiga-da-Cunha M, Barbetti F, Dunten P, Han Y, Grimsby J, Taub R, Ellard S, Hattersley AT, Matschinsky FM.

J Biol Chem. 2005 Apr 8;280(14):14105-13. Epub 2005 Jan 25.PMID: 15677479 [PubMed - indexed for MEDLINE]Related articlesFree article

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.

Wabitsch M, Lahr G, Van de Bunt M, Marchant C, Lindner M, von Puttkamer J, Fenneberg A, Debatin KM, Klein R, Ellard S, Clark A, Gloyn AL.

Diabet Med. 2007 Dec;24(12):1393-9. Epub 2007 Nov 1.PMID: 17976205 [PubMed - indexed for MEDLINE]Related articles

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL.

Hum Mutat. 2009 Nov;30(11):1512-26.PMID: 19790256 [PubMed - in process]Related articles

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.

Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S, Hussain K.

Diabetes. 2008 Jun;57(6):1659-63. Epub 2008 Feb 11.PMID: 18268044 [PubMed - indexed for MEDLINE]Related articlesFree article

Counterregulatory responses to hypoglycemia in patients with glucokinase gene mutations.

Guenat E, Seematter G, Philippe J, Temler E, Jequier E, Tappy L.

Diabetes Metab. 2000 Nov;26(5):377-84.PMID: 11119017 [PubMed - indexed for MEDLINE]Related articlesFree article

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.

Christesen HB, Tribble ND, Molven A, Siddiqui J, Sandal T, Brusgaard K, Ellard S, Njølstad PR, Alm J, Brock Jacobsen B, Hussain K, Gloyn AL.

Eur J Endocrinol. 2008 Jul;159(1):27-34. Epub 2008 May 1.PMID: 18450771 [PubMed - indexed for MEDLINE]Related articlesFree article

Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations.

Heredia VV, Carlson TJ, Garcia E, Sun S.

J Biol Chem. 2006 Dec 29;281(52):40201-7. Epub 2006 Nov 2.PMID: 17082186 [PubMed - indexed for MEDLINE]Related articlesFree article

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

Barbetti F, Cobo-Vuilleumier N, Dionisi-Vici C, Toni S, Ciampalini P, Massa O, Rodriguez-Bada P, Colombo C, Lenzi L, Garcia-Gimeno MA, Bermudez-Silva FJ, Rodriguez de Fonseca F, Banin P, Aledo JC, Baixeras E, Sanz P, Cuesta-Muñoz AL.

Mol Endocrinol. 2009 Dec;23(12):1983-9. Epub 2009 Nov 2.PMID: 19884385 [PubMed - in process]Related articles

Diagnostic difficulties in glucokinase hyperinsulinism.

Meissner T, Marquard J, Cobo-Vuilleumier N, Maringa M, Rodríguez-Bada P, García-Gimeno MA, Baixeras E, Weber J, Olek K, Sanz P, Mayatepek E, Cuesta-Muñoz AL.

Horm Metab Res. 2009 Apr;41(4):320-6. Epub 2008 Dec 3.PMID: 19053014 [PubMed - indexed for MEDLINE]Related articles

Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis.

Davis EA, Cuesta-Muñoz A, Raoul M, Buettger C, Sweet I, Moates M, Magnuson MA, Matschinsky FM.

Diabetologia. 1999 Oct;42(10):1175-86.PMID: 10525657 [PubMed - indexed for MEDLINE]Related articles

Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.

García-Herrero CM, Galán M, Vincent O, Flández B, Gargallo M, Delgado-Alvarez E, Blázquez E, Navas MA.

Diabetologia. 2007 Feb;50(2):325-33. Epub 2006 Dec 21.PMID: 17186219 [PubMed - indexed for MEDLINE]Related articles

Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability.

Galán M, Vincent O, Roncero I, Azriel S, Boix-Pallares P, Delgado-Alvarez E, Díaz-Cadórniga F, Blázquez E, Navas MA.

Biochem J. 2006 Jan 1;393(Pt 1):389-96.PMID: 16173921 [PubMed - indexed for MEDLINE]Related articlesFree article

Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme.

Liang Y, Kesavan P, Wang LQ, Niswender K, Tanizawa Y, Permutt MA, Magnuson MA, Matschinsky FM.

Biochem J. 1995 Jul 1;309 ( Pt 1):167-73.PMID: 7619052 [PubMed - indexed for MEDLINE]Related articlesFree article

Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics.

Matschinsky FM.

Diabetes. 2002 Dec;51 Suppl 3:S394-404. Review.PMID: 12475782 [PubMed - indexed for MEDLINE]Related articlesFree article

Glucokinase thermolability and hepatic regulatory protein binding are essential factors for predicting the blood glucose phenotype of missense mutations.

Pino MF, Kim KA, Shelton KD, Lindner J, Odili S, Li C, Collins HW, Shiota M, Matschinsky FM, Magnuson MA.

J Biol Chem. 2007 May 4;282(18):13906-16. Epub 2007 Mar 12.PMID: 17353190 [PubMed - indexed for MEDLINE]Related articlesFree article