Functional Characterization of the Novel Mutation IVS 8 (−11delC) (−14T>A) in the Intron 8 of the Glucocerebrosidase Gene of Two Italian Siblings with Gaucher Disease Type I

2000 ◽  
Vol 26 (3) ◽  
pp. 171-176 ◽  
Author(s):  
Maurizio Romano ◽  
Giorgia M Danek ◽  
Francisco E Baralle ◽  
Raffaella Mazzotti ◽  
Mirella Filocamo
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Functional Characterization ◽  
Disease Type ◽  
Type I ◽  
The Novel ◽  
Glucocerebrosidase Gene

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.

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1

2004 ◽  
Vol 25 (1) ◽  
pp. 100-100 ◽  
Author(s):  
Snje?ana Mio?i? ◽  
Mirella Filocamo ◽  
Silvia Dominissini ◽  
Anna Lisa E. Montalvo ◽  
Kristian Vlahovi?ek ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Functional Characterization ◽  
Disease Type ◽  
Gaucher Disease Type 1

RESPONSE TO ENZYME REPLACEMENT THERAPY IN PATIENTS WITH GAUCHER DISEASE TYPE I

2019 ◽  
Vol 22 (06) ◽  
pp. 103-117
Author(s):  
Mays Al-Tai ◽  
Deia Al-Asady ◽  
Rula Hamid
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Disease Type ◽  
Type I ◽  
Enzyme Replacement

scholarly journals Functional Characterization of a Redundant Plasmodium TRAP Family Invasin, TRAP-Like Protein, by Aldolase Binding and a Genetic Complementation Test

2008 ◽  
Vol 7 (6) ◽  
pp. 1062-1070 ◽  
Author(s):  
Kirsten Heiss ◽  
Hui Nie ◽  
Sumit Kumar ◽  
Thomas M. Daly ◽  
Lawrence W. Bergman ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Cell Entry ◽  
Host Cells ◽  
Complementation Test ◽  
Type I ◽  
Cycle Progression ◽  
Targeted Gene Disruption ◽  
Specific Host ◽  
Host Cell Entry

ABSTRACT Efficient and specific host cell entry is of exquisite importance for intracellular pathogens. Parasites of the phylum Apicomplexa are highly motile and actively enter host cells. These functions are mediated by type I transmembrane invasins of the TRAP family that link an extracellular recognition event to the parasite actin-myosin motor machinery. We systematically tested potential parasite invasins for binding to the actin bridging molecule aldolase and complementation of the vital cytoplasmic domain of the sporozoite invasin TRAP. We show that the ookinete invasin CTRP and a novel, structurally related protein, termed TRAP-like protein (TLP), are functional members of the TRAP family. Although TLP is expressed in invasive stages, targeted gene disruption revealed a nonvital role during life cycle progression. This is the first genetic analysis of TLP, encoding a redundant TRAP family invasin, in the malaria parasite.

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

Evaluation of an enzyme immunoassay kit for estrogen receptor measurement--report II.

1988 ◽  
Vol 34 (10) ◽  
pp. 2053-2057 ◽  
Author(s):  
S Raam ◽  
D M Vrabel
Keyword(s):  
Enzyme Immunoassay ◽  
Binding Sites ◽  
Solid Phase ◽  
Functional Characterization ◽  
Quantitative Agreement ◽  
Type I ◽  
Type Ii ◽  
Immunoreactive Protein ◽  
Estrogen Binding

Abstract We present evidence to show that monoclonal antibodies to estrogen receptors (ER) in solid phase recognize the secondary estrogen binding sites with moderate to low affinity for estradiol (E2). An excellent quantitative agreement was found in five cytosols between the ER values obtained by the enzyme immunoassay (ER-EIA) and the amount of secondary estrogen binding sites measured by the assay involving dextran-coated charcoal (Clin Chem 1986;32:1496). The immunoreactive protein recognized by the antibody-coated beads, when allowed to react with ER(+) cytosols, is shown to bind [3H]estradiol only when the ligand concentration exceeds 8 nmol/L. Further biochemical and functional characterization of the immunoreactive protein is required to establish similarities/dissimilarities between this protein, high-affinity Type I ER sites, and the secondary sites such as Type II sites.

Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish Patients

2001 ◽  
Vol 27 (2) ◽  
pp. 489-495 ◽  
Author(s):  
M.A. Torralba ◽  
J.I. Pérez-Calvo ◽  
G.M. Pastores ◽  
A. Cenarro ◽  
P. Giraldo ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Identification And Characterization

Molecular and functional characterization of the murine glucocerebrosidase gene

1992 ◽  
Vol 184 (3) ◽  
pp. 1477-1483 ◽  
Author(s):  
Eugene D. Carstea ◽  
Gary J. Murray ◽  
Raymond R. O'Neill
Keyword(s):  
Functional Characterization ◽  
Glucocerebrosidase Gene
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