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Items: 1 to 20 of 283

1.

A report of 2 new cases of MODY2 and review of the literature: implications in the search for type 2 diabetes drugs.

Shammas C, Neocleous V, Phelan MM, Lian LY, Skordis N, Phylactou LA.

Metabolism. 2013 Nov;62(11):1535-42. doi: 10.1016/j.metabol.2013.06.007. Epub 2013 Jul 24. Review.

PMID:
23890519
2.

Research and development of glucokinase activators for diabetes therapy: theoretical and practical aspects.

Matschinsky FM, Zelent B, Doliba NM, Kaestner KH, Vanderkooi JM, Grimsby J, Berthel SJ, Sarabu R.

Handb Exp Pharmacol. 2011;(203):357-401. doi: 10.1007/978-3-642-17214-4_15. Review.

PMID:
21484579
3.

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.

5.

A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.

Loomba-Albrecht LA, Jame M, Bremer AA.

Diabetes Res Clin Pract. 2010 Mar;87(3):e23-5. doi: 10.1016/j.diabres.2009.11.013. Epub 2009 Dec 16.

PMID:
20015564
6.

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
7.

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.

8.

Functional characterization of MODY2 mutations highlights the importance of the fine-tuning of glucokinase and its role in glucose sensing.

García-Herrero CM, Rubio-Cabezas O, Azriel S, Gutierrez-Nogués A, Aragonés A, Vincent O, Campos-Barros A, Argente J, Navas MA.

PLoS One. 2012;7(1):e30518. doi: 10.1371/journal.pone.0030518. Epub 2012 Jan 24.

9.

Characterization of glucokinase polymorphisms associated with maturity-onset diabetes of the young (MODY2) in Jordanian population.

Al-Sheyab F, Khamaiseh E, Halaweh MA, Khaul RW.

Tsitol Genet. 2009 Sep-Oct;43(5):58-63.

PMID:
20458967
11.

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. doi: 10.1210/me.2009-0094. Epub 2009 Nov 2.

12.

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. doi: 10.1002/humu.21110. Review.

PMID:
19790256
13.

GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.

Negahdar M, Aukrust I, Molnes J, Solheim MH, Johansson BB, Sagen JV, Dahl-Jørgensen K, Kulkarni RN, Søvik O, Flatmark T, Njølstad PR, Bjørkhaug L.

Mol Cell Endocrinol. 2014 Jan 25;382(1):55-65. doi: 10.1016/j.mce.2013.08.020. Epub 2013 Aug 31.

PMID:
24001579
14.

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.

Beer NL, van de Bunt M, Colclough K, Lukacs C, Arundel P, Chik CL, Grimsby J, Ellard S, Gloyn AL.

J Biol Chem. 2011 May 27;286(21):19118-26. doi: 10.1074/jbc.M111.223362. Epub 2011 Mar 29.

15.

Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.

Sagen JV, Bjørkhaug L, Molnes J, Raeder H, Grevle L, Søvik O, Molven A, Njølstad PR.

Pediatr Diabetes. 2008 Oct;9(5):442-9. doi: 10.1111/j.1399-5448.2008.00399.x. Epub 2008 Apr 9.

PMID:
18399931
16.

Glucokinase activators for the potential treatment of type 2 diabetes.

Grimsby J, Berthel SJ, Sarabu R.

Curr Top Med Chem. 2008;8(17):1524-32. Review.

PMID:
19075763
17.

Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

Estalella I, Garcia-Gimeno MA, Marina A, Castaño L, Sanz P.

J Hum Genet. 2008;53(5):460-6. doi: 10.1007/s10038-008-0271-5. Epub 2008 Mar 6.

PMID:
18322640
18.

beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations.

Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Froguel P, Hattersley AT.

Diabetes. 2001 Feb;50 Suppl 1:S101-7.

19.

Targeting glucokinase activation for the treatment of type 2 diabetes--a status review.

Sarabu R, Grimsby J.

Curr Opin Drug Discov Devel. 2005 Sep;8(5):631-7. Review.

PMID:
16159025
20.

MODY2 caused by a novel mutation of GCK gene.

Pulst K, Arbo T, Kahre T, Peet A, Tillmann V.

J Pediatr Endocrinol Metab. 2012;25(7-8):801-3.

PMID:
23155715

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