Navas MA - Search Results

1

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. García-Herrero CM, et al. Among authors: navas ma. PLoS One. 2012;7(1):e30518. doi: 10.1371/journal.pone.0030518. Epub 2012 Jan 24. PLoS One. 2012. PMID: 22291974 Free PMC article.

2

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. García-Herrero CM, et al. Among authors: navas ma. Diabetologia. 2007 Feb;50(2):325-33. doi: 10.1007/s00125-006-0542-7. Epub 2006 Dec 21. Diabetologia. 2007. PMID: 17186219

3

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. Galán M, et al. Among authors: navas ma. Biochem J. 2006 Jan 1;393(Pt 1):389-96. doi: 10.1042/BJ20051137. Biochem J. 2006. PMID: 16173921 Free PMC article.

4

Functional characterization of MODY2 mutations in the nuclear export signal of glucokinase.

Gutierrez-Nogués A, García-Herrero CM, Oriola J, Vincent O, Navas MA. Gutierrez-Nogués A, et al. Among authors: navas ma. Biochim Biophys Acta Mol Basis Dis. 2018 Jul;1864(7):2385-2394. doi: 10.1016/j.bbadis.2018.04.020. Epub 2018 Apr 26. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29704611 Free article.

5

Gene symbol: GCK. Disease: diabetes, MODY.

Navas MA, Galan M, Vincent O, Roncero I, Azriel S, Boix-Pallares P, Delgado-Alvarez E, Diaz-Cadórniga F, Blázquez E. Navas MA, et al. Hum Genet. 2006 Apr;119(3):363. Hum Genet. 2006. PMID: 17230658 No abstract available.

6

Differential effects of HNF-1α mutations associated with familial young-onset diabetes on target gene regulation.

Galán M, García-Herrero CM, Azriel S, Gargallo M, Durán M, Gorgojo JJ, Andía VM, Navas MA. Galán M, et al. Among authors: navas ma. Mol Med. 2011 Mar-Apr;17(3-4):256-65. doi: 10.2119/molmed.2010.00097. Epub 2010 Dec 15. Mol Med. 2011. PMID: 21170474 Free PMC article.

7

Lack of glibenclamide response in a case of permanent neonatal diabetes caused by incomplete inactivation of glucokinase.

Oriola J, Moreno F, Gutiérrez-Nogués A, León S, García-Herrero CM, Vincent O, Navas MA. Oriola J, et al. Among authors: navas ma. JIMD Rep. 2015;20:21-6. doi: 10.1007/8904_2014_383. Epub 2015 Feb 10. JIMD Rep. 2015. PMID: 25665835 Free PMC article.

8

Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.

Martínez R, Gutierrez-Nogués Á, Fernández-Ramos C, Velayos T, Vela A; Spanish Congenital Hyperinsulinism Group; Navas MÁ, Castaño L. Martínez R, et al. Among authors: navas ma. Clin Endocrinol (Oxf). 2017 Jun;86(6):778-783. doi: 10.1111/cen.13318. Epub 2017 Mar 27. Clin Endocrinol (Oxf). 2017. PMID: 28247534

9

A novel reverse two-hybrid method for the identification of missense mutations that disrupt protein-protein binding.

Vincent O, Gutierrez-Nogués A, Trejo-Herrero A, Navas MA. Vincent O, et al. Among authors: navas ma. Sci Rep. 2020 Dec 3;10(1):21043. doi: 10.1038/s41598-020-77992-1. Sci Rep. 2020. PMID: 33273586 Free PMC article.

10

A conserved ATG2 binding site in WIPI4 and yeast Hsv2 is disrupted by mutations causing β-propeller protein-associated neurodegeneration.

Bueno-Arribas M, Blanca I, Cruz-Cuevas C, Escalante R, Navas MA, Vincent O. Bueno-Arribas M, et al. Among authors: navas ma. Hum Mol Genet. 2021 Dec 17;31(1):111-121. doi: 10.1093/hmg/ddab225. Hum Mol Genet. 2021. PMID: 34368840 Free PMC article.

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