MacMullen C - Search Results

1

Effects of a GTP-insensitive mutation of glutamate dehydrogenase on insulin secretion in transgenic mice.

Li C, Matter A, Kelly A, Petty TJ, Najafi H, MacMullen C, Daikhin Y, Nissim I, Lazarow A, Kwagh J, Collins HW, Hsu BY, Nissim I, Yudkoff M, Matschinsky FM, Stanley CA. Li C, et al. Among authors: macmullen c. J Biol Chem. 2006 Jun 2;281(22):15064-72. doi: 10.1074/jbc.M600994200. Epub 2006 Mar 30. J Biol Chem. 2006. PMID: 16574664 Free article.

2

Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations.

Fang J, Hsu BY, MacMullen CM, Poncz M, Smith TJ, Stanley CA. Fang J, et al. Biochem J. 2002 Apr 1;363(Pt 1):81-7. doi: 10.1042/0264-6021:3630081. Biochem J. 2002. PMID: 11903050 Free PMC article.

3

Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor.

Magge SN, Shyng SL, MacMullen C, Steinkrauss L, Ganguly A, Katz LE, Stanley CA. Magge SN, et al. Among authors: macmullen c. J Clin Endocrinol Metab. 2004 Sep;89(9):4450-6. doi: 10.1210/jc.2004-0441. J Clin Endocrinol Metab. 2004. PMID: 15356046

4

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. Henwood MJ, et al. Among authors: macmullen c. J Clin Endocrinol Metab. 2005 Feb;90(2):789-94. doi: 10.1210/jc.2004-1604. Epub 2004 Nov 23. J Clin Endocrinol Metab. 2005. PMID: 15562009

5

A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels.

Lin YW, MacMullen C, Ganguly A, Stanley CA, Shyng SL. Lin YW, et al. Among authors: macmullen c. J Biol Chem. 2006 Feb 3;281(5):3006-12. doi: 10.1074/jbc.M511875200. Epub 2005 Dec 6. J Biol Chem. 2006. PMID: 16332676 Free PMC article.

6

Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.

MacMullen C, Fang J, Hsu BY, Kelly A, de Lonlay-Debeney P, Saudubray JM, Ganguly A, Smith TJ, Stanley CA; Hyperinsulinism/hyperammonemia Contributing Investigators. MacMullen C, et al. J Clin Endocrinol Metab. 2001 Apr;86(4):1782-7. doi: 10.1210/jcem.86.4.7414. J Clin Endocrinol Metab. 2001. PMID: 11297618

7

Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.

Thornton PS, MacMullen C, Ganguly A, Ruchelli E, Steinkrauss L, Crane A, Aguilar-Bryan L, Stanley CA. Thornton PS, et al. Among authors: macmullen c. Diabetes. 2003 Sep;52(9):2403-10. doi: 10.2337/diabetes.52.9.2403. Diabetes. 2003. PMID: 12941782

8

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. Lin YW, et al. Among authors: macmullen c. J Biol Chem. 2008 Apr 4;283(14):9146-56. doi: 10.1074/jbc.M708798200. Epub 2008 Feb 4. J Biol Chem. 2008. PMID: 18250167 Free PMC article.

9

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. Pinney SE, et al. Among authors: macmullen c. J Clin Invest. 2008 Aug;118(8):2877-86. doi: 10.1172/JCI35414. J Clin Invest. 2008. PMID: 18596924 Free PMC article.

10

Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.

Pinney SE, Ganapathy K, Bradfield J, Stokes D, Sasson A, Mackiewicz K, Boodhansingh K, Hughes N, Becker S, Givler S, Macmullen C, Monos D, Ganguly A, Hakonarson H, Stanley CA. Pinney SE, et al. Among authors: macmullen c. Horm Res Paediatr. 2013;80(1):18-27. doi: 10.1159/000351943. Epub 2013 Jul 13. Horm Res Paediatr. 2013. PMID: 23859901 Free PMC article.

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