scholarly journals Identification of three missense mutations in the peroxisome proliferator-activated receptor α gene in Japanese subjects with maturity-onset diabetes of the young

2001 ◽  
Vol 46 (5) ◽  
pp. 285-288 ◽  
Author(s):  
M. Hara ◽  
X. Wang ◽  
V. P. Paz ◽  
N. Iwasaki ◽  
M. Honda ◽  
...  
Keyword(s):  
Peroxisome Proliferator ◽  
Missense Mutations ◽  
Maturity Onset Diabetes ◽  
Peroxisome Proliferator Activated Receptor ◽  
Onset Diabetes ◽  
Japanese Subjects

Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY)

1998 ◽  
Vol 12 (2) ◽  
pp. 136-136 ◽  
Author(s):  
Barbara Guazzini ◽  
Davide Gaffi ◽  
Davide Mainieri ◽  
Giuseppe Multari ◽  
Renzo Cordera ◽  
...  
Keyword(s):  
Missense Mutations ◽  
Maturity Onset Diabetes ◽  
Glucokinase Gene ◽  
Onset Diabetes

scholarly journals Evolution- and Structure-Based Computational Strategy Reveals the Impact of Deleterious Missense Mutations on MODY 2 (Maturity-Onset Diabetes of the Young, Type 2)

Theranostics ◽  
2014 ◽  
Vol 4 (4) ◽  
pp. 366-385 ◽  
Author(s):  
Doss C. Priya George ◽  
Chiranjib Chakraborty ◽  
SA Syed Haneef ◽  
Nagarajan NagaSundaram ◽  
Luonan Chen ◽  
...  
Keyword(s):  
Missense Mutations ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
The Impact ◽  
Computational Strategy

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

2005 ◽  
Vol 393 (1) ◽  
pp. 389-396 ◽  
Author(s):  
María Galán ◽  
Olivier Vincent ◽  
Isabel Roncero ◽  
Sharona Azriel ◽  
Pedro Boix-Pallares ◽  
...  
Keyword(s):  
Protein Stability ◽  
Glucose Sensor ◽  
Critical Role ◽  
Regulatory Protein ◽  
Missense Mutations ◽  
Maturity Onset Diabetes ◽  
Glutathione S Transferase ◽  
Enzymatic Assays ◽  
Onset Diabetes ◽  
Healthy Control

Glucokinase acts as the pancreatic glucose sensor and plays a critical role in the regulation of insulin secretion by the β-cell. Heterozygous mutations in the glucokinase-encoding GCK gene, which result in a reduction of the enzymatic activity, cause the monogenic form of diabetes, MODY2 (maturity-onset diabetes of the young 2). We have identified and functionally characterized missense mutations in the GCK gene in diabetic families that result in protein mutations Leu165→Phe, Glu265→Lys and Thr206→Met. The first two are novel GCK mutations that co-segregate with the diabetes phenotype in their respective families and are not found in more than 50 healthy control individuals. In order to measure the biochemical effects of these missense mutations on glucokinase activity, we bacterially expressed and affinity-purified islet human glucokinase proteins carrying the respective mutations and fused to GST (glutathione S-transferase). 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. In contrast, mutation Glu265→Lys, which has a weaker effect on the kinetics of glucokinase, strongly affects the protein stability, suggesting a possible structural defect of this mutant protein. Finally, none of the mutations tested appears to affect the interaction of gluco-kinase with the glucokinase regulatory protein in the yeast two-hybrid system.

scholarly journals Mutations in the Coding Region of the Neurogenin 3 Gene (NEUROG3) Are Not a Common Cause of Maturity-Onset Diabetes of the Young in Japanese Subjects

Diabetes ◽  
2001 ◽  
Vol 50 (3) ◽  
pp. 694-696 ◽  
Author(s):  
L. del Bosque-Plata ◽  
J. Lin ◽  
Y. Horikawa ◽  
P. E.H. Schwarz ◽  
N. J. Cox ◽  
...  
Keyword(s):  
Maturity Onset Diabetes ◽  
Coding Region ◽  
Neurogenin 3 ◽  
Common Cause ◽  
Onset Diabetes ◽  
Japanese Subjects
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