Functional characterization of the novel thyroid hormone transporter SLC17A4

Thyroid ◽  
2021 ◽  
Author(s):  
Stefan Groeneweg ◽  
Ferdy S. van Geest ◽  
Zhongli Chen ◽  
Stefania Farina ◽  
Ramona E.A. van Heerebeek ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Functional Characterization ◽  
The Novel

Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase

2005 ◽  
Vol 129 (6) ◽  
pp. 847-853 ◽  
Author(s):  
M. J. Percy ◽  
L. J. Crowley ◽  
C. A. Davis ◽  
M. F. McMullin ◽  
G. Savage ◽  
...  
Keyword(s):  
Cytochrome B5 ◽  
Functional Characterization ◽  
The Novel ◽  
Cytochrome B5 Reductase

scholarly journals Functional characterization of mutations and their interaction using the novel functional annotation for cancer treatment (FACT) platform

2016 ◽  
Vol 27 ◽  
pp. vi404
Author(s):  
B. Miron ◽  
N. Peled ◽  
Z. Barbash ◽  
O. Edelheit ◽  
M. Vidne ◽  
...  
Keyword(s):  
Cancer Treatment ◽  
Functional Annotation ◽  
Functional Characterization ◽  
The Novel

Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2

2012 ◽  
Vol 418 (4) ◽  
pp. 830-835 ◽  
Author(s):  
Parwez Aidery ◽  
Jana Kisselbach ◽  
Harald Gaspar ◽  
Ioana Baldea ◽  
Patrick A. Schweizer ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Functional Characterization ◽  
The Novel ◽  
Related Gene ◽  
Long Qt ◽  
Qt Syndrome

scholarly journals Functional characterization of the novel cannabinoid receptor GPR55 and its modulation by CB1 and CB2 receptors

2008 ◽  
Vol 8 (Suppl 1) ◽  
pp. A23
Author(s):  
Nariman Balenga ◽  
Julia Kargl ◽  
Christopher M Henstridge ◽  
Andrew J Irving ◽  
Maria Waldhoer
Keyword(s):  
Cannabinoid Receptor ◽  
Functional Characterization ◽  
The Novel ◽  
Cb2 Receptors ◽  
Cb1 And Cb2 Receptors

scholarly journals Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees

2021 ◽  
Vol 12 ◽  
Author(s):  
Feng Jiang ◽  
Jing Yan ◽  
Rong Zhang ◽  
Xiaojing Ma ◽  
Yuqian Bao ◽  
...  
Keyword(s):  
Thermal Stability ◽  
Stability Analysis ◽  
Novel Mutation ◽  
Functional Characterization ◽  
Heterozygous Mutation ◽  
The Novel ◽  
Glucokinase Gene ◽  
Onset Diabetes ◽  
Whole Exome

BackgroundGlucokinase (GCK) plays a central role in glucose regulation. The heterozygous mutations of GCK can cause a monogenic form of diabetes, maturity-onset diabetes of the young (MODY) directly. In our study, we aimed to explore the mechanism of the novel mutation GCK p.Ala259Thr leading to glucokinase deficiency and hyperglycemia.MethodsThirty early-onset diabetes pedigrees were referred to whole exome sequencing for novel mutations identification. Purified wild-type and mutant GCK proteins were obtained from E.coli systems and then subjected to the kinetic and thermal stability analysis to test the effects on GCK activity.ResultsOne novel missense mutation GCK p.Ala259Thr was identified and co-segregated with diabetes in a Chinese MODY2 pedigree. The kinetic analysis showed that this mutation result in a decreased affinity and catalytic capability for glucose. The thermal stability analysis also indicated that the mutant protein presented dramatically decreased activity at the same temperature.ConclusionOur study firstly identified a novel MODY2 mutation p.Ala259Thr in Chinese diabetes pedigrees. The kinetic and thermal stability analysis confirmed that this mutation caused hyperglycemia through severely damaging the enzyme activities and protein stability.

(101) Functional characterization of the novel alternatively spliced form of mu-opioid receptor OPRM1

2008 ◽  
Vol 9 (4) ◽  
pp. 1 ◽  
Author(s):  
P. Gris ◽  
P. Cheng ◽  
J. Gauthier ◽  
S. Shabalina ◽  
W. Maixner ◽  
...  
Keyword(s):  
Opioid Receptor ◽  
Functional Characterization ◽  
Mu Opioid Receptor ◽  
The Novel ◽  
Mu Opioid ◽  
Alternatively Spliced
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