M
María-Angeles Navas
Researcher at Complutense University of Madrid
Publications - 8
Citations - 126
María-Angeles Navas is an academic researcher from Complutense University of Madrid. The author has contributed to research in topics: Mutation & Glucokinase. The author has an hindex of 4, co-authored 8 publications receiving 101 citations. Previous affiliations of María-Angeles Navas include Carlos III Health Institute & Hospital Clínico San Carlos.
Papers
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Journal ArticleDOI
Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability
María Galán,Olivier Vincent,Isabel Roncero,Sharona Azriel,Pedro Boix-Pallares,Elías Delgado-Alvarez,Francisco Díaz-Cadórniga,Enrique Blázquez,María-Angeles Navas +8 more
TL;DR: Enzymatic assays on the recombinant proteins revealed that mutations Thr206-->Met and Leu165-->Phe strongly affect the kinetic parameters of glucokinase, in agreement with the localization of both residues close to the active site of the enzyme.
Journal ArticleDOI
Differential effects of HNF-1α mutations associated with familial young-onset diabetes on target gene regulation
María Galán,Carmen-María García-Herrero,Sharona Azriel,Manuel Gargallo,Maria Durán,Juan-Jose Gorgojo,Victor-Manuel Andía,María-Angeles Navas +7 more
TL;DR: The results suggest that HNF1A mutations may have differential effects on the regulation of specific target genes, which could contribute to the variability of the MODY3 clinical phenotype.
Journal ArticleDOI
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization
Rosa de Diego Martínez,Angel Gutierrez-Nogués,Concepción Fernández-Ramos,Teresa Velayos,Amaia Vela,María-Angeles Navas,Luis Castaño +6 more
TL;DR: Mutations in the GCK gene lead to different forms of glucokinase (GCK)‐disease, activating mutations cause hyperinsulinaemic hypoglycaemia while inactivating mutations cause monogenic diabetes.
Book ChapterDOI
Lack of glibenclamide response in a case of permanent neonatal diabetes caused by incomplete inactivation of glucokinase.
Josep Oriola,Francisca Moreno,Angel Gutierrez-Nogués,Sara León,Carmen-María García-Herrero,Olivier Vincent,María-Angeles Navas,María-Angeles Navas +7 more
TL;DR: Hypoglycaemic drugs acting on the KATP channel might not be useful in the treatment of PNDM-GCK, even in patients carrying GCK mutations with mild kinetic defects.
Journal ArticleDOI
A conserved ATG2 binding site in WIPI4 and yeast Hsv2 is disrupted by mutations causing β-propeller protein-associated neurodegeneration.
Miranda Bueno-Arribas,Irene Blanca,Celia Cruz-Cuevas,Ricardo Escalante,María-Angeles Navas,Olivier Vincent +5 more
TL;DR: In this paper, it was shown that Hsv2 and a pool of Atg2 colocalize on endosomes under basal conditions, and at the pre-autophagosomal structure (PAS) upon autophagy induction.