scholarly journals Functional characterization of two novel 5' untranslated exons reveals a complex regulation of NOD2 protein expression

BMC Genomics ◽  
2007 ◽  
Vol 8 (1) ◽  
pp. 472 ◽  
Author(s):  
Philip Rosenstiel ◽  
Klaus Huse ◽  
Andre Franke ◽  
Jochen Hampe ◽  
Kathrin Reichwald ◽  
...  
Keyword(s):  
Protein Expression ◽  
Functional Characterization ◽  
Complex Regulation

scholarly journals Selenoproteins and Their Impact on Human Health Through Diverse Physiological Pathways

Physiology ◽  
2006 ◽  
Vol 21 (5) ◽  
pp. 307-315 ◽  
Author(s):  
Behzad Moghadaszadeh ◽  
Alan H. Beggs
Keyword(s):  
Trace Element ◽  
Human Health ◽  
Functional Characterization ◽  
Physiological Effects ◽  
Recent Advances ◽  
The Subject ◽  
Physiological Pathways ◽  
Complex Regulation

In the last few decades, the importance of selenium in human health has been the subject of numerous studies. It is believed that the physiological effects of selenium occur mainly through the function of selenoproteins, which incorporate selenium in the form of one or more selenocysteine residues. Recent advances in understanding the complex regulation of selenoprotein synthesis and functional characterization of several members of the selenoprotein family have contributed to an improved comprehension of the role(s) of selenium in human health and the great diversity of physiological pathways influenced by this trace element.

scholarly journals Mammalian cell-free protein expression promotes the functional characterization of the tripartite non-hemolytic enterotoxin from Bacillus cereus

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Franziska Ramm ◽  
Srujan Kumar Dondapati ◽  
Lena Thoring ◽  
Anne Zemella ◽  
Doreen Anja Wüstenhagen ◽  
...  
Keyword(s):  
Protein Expression ◽  
Bacillus Cereus ◽  
Mammalian Cell ◽  
Functional Characterization ◽  
Free Protein

scholarly journals Characterization of Na+/H+ exchanger NHE8 in cultured renal epithelial cells

2007 ◽  
Vol 293 (3) ◽  
pp. F761-F766 ◽  
Author(s):  
Jianning Zhang ◽  
Ion Alexandru Bobulescu ◽  
Sunita Goyal ◽  
Peter S. Aronson ◽  
Michel G. Baum ◽  
...  
Keyword(s):  
Protein Expression ◽  
Mammalian Cells ◽  
Small Interfering Rna ◽  
Apical Membrane ◽  
Basolateral Membrane ◽  
Functional Characterization ◽  
Protein Levels ◽  
Primary Amino ◽  
Interfering Rna

NHE8 is expressed in the apical membrane of the proximal tubule and is predicted to be a Na+/H+ exchanger on the basis of its primary amino acid sequence. Functional characterization of native NHE8 in mammalian cells has not been possible to date. We screened a number of polarized renal cell lines for the plasma membrane Na+/H+ exchangers (NHE1, 2, 3, 4, and 8) and found only NHE1 and NHE8 transcripts in NRK cells by RT-PCR. NHE8 protein is expressed in the apical membrane of NRK cells as demonstrated by immunoblots, confocal fluorescent immunocytochemistry, and immunoelectron microscopy. NHE1, on the other hand, is expressed primarily in the basolateral membrane. Bilateral perfusion of NRK cells grown on permeable supports shows Na+/H+ exchange activity on both the apical and basolateral membranes. NHE8-specific small interfering RNA knocks down NHE8 protein expression but does not affect NHE1 protein levels. Knockdown of NHE8 protein is accompanied by a commensurate reduction in apical NHE activity, without altered basolateral NHE activity. Conversely, transfection of NHE1-specific small interfering RNA knocks down NHE1 protein expression without affecting NHE8 protein levels and reduces basolateral NHE activity without affecting apical NHE activity. NHE8 is the only apical membrane Na+/H+ exchanger in NRK cells. NHE8 activity is Na+ dependent, displaying a cooperative sigmoidal relationship, and is highly sensitive to 5-( N-ethyl- n-isopropyl)-amiloride (EIPA). NRK cells provide a useful system where NHE8 can be studied in its native environment.

scholarly journals Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy

2017 ◽  
Vol 3 (6) ◽  
pp. e198 ◽  
Author(s):  
Jeffrey D. Calhoun ◽  
Carlos G. Vanoye ◽  
Fernando Kok ◽  
Alfred L. George ◽  
Jennifer A. Kearney
Keyword(s):  
Protein Expression ◽  
Exome Sequencing ◽  
Biochemical Characterization ◽  
Neurodevelopmental Disorder ◽  
Functional Characterization ◽  
Loss Of Function ◽  
Phenotypic Spectrum ◽  
Whole Exome ◽  
Protein Dysfunction

Objective:To perform functional characterization of a potentially pathogenic KCNB1 variant identified by clinical exome sequencing of a proband with a neurodevelopmental disorder that included epilepsy and centrotemporal spikes on EEG.Methods:Whole-exome sequencing identified the KCNB1 variant c.595A>T (p.Ile199Phe). Biochemical and electrophysiologic experiments were performed to determine whether this variant affected protein expression, trafficking, and channel functional properties.Results:Biochemical characterization of the variant suggested normal protein expression and trafficking. Functional characterization revealed biophysical channel defects in assembled homotetrameric and heterotetrameric channels.Conclusions:The identification of the KCNB1 variant c.595A>T (p.Ile199Phe) in a neurodevelopmental disorder that included epilepsy with centrotemporal spikes expands the phenotypic spectrum of epilepsies associated with KCNB1 variants. The KCNB1-I199F variant exhibited partial loss of function relative to the wild-type channel. This defect is arguably less severe than previously reported KCNB1 variants, suggesting the possibility that the degree of KCNB1 protein dysfunction may influence disease severity.

scholarly journals Detailed Phenotypic and Functional Characterization of a Rare, Antibody-Dependent SLAM-Associated Protein Expression Pattern

2020 ◽  
Vol 4 (4) ◽  
pp. 153-164
Author(s):  
Aaruni Khanolkar ◽  
Jeffrey D. Wilks ◽  
Guorong Liu ◽  
Edward A. Caparelli ◽  
Michelle De Moura ◽  
...  
Keyword(s):  
Protein Expression ◽  
Expression Pattern ◽  
Functional Characterization ◽  
Protein Expression Pattern

MarmosetCYP3A21, a model for humanCYP3A4: Protein expression and functional characterization of the promoter

Xenobiotica ◽  
2006 ◽  
Vol 36 (12) ◽  
pp. 1210-1226 ◽  
Author(s):  
S. C. Koehler ◽  
N. Von Ahsen ◽  
C. Schlumbohm ◽  
A. R. Asif ◽  
U. Goedtel-Armbrust ◽  
...  
Keyword(s):  
Protein Expression ◽  
Functional Characterization

Functional characterization of human brown adipose tissue metabolism

2020 ◽  
Vol 477 (7) ◽  
pp. 1261-1286 ◽  
Author(s):  
Marie Anne Richard ◽  
Hannah Pallubinsky ◽  
Denis P. Blondin
Keyword(s):  
Adipose Tissue ◽  
Brown Adipose Tissue ◽  
Functional Characterization ◽  
Human Infants ◽  
Positron Emission ◽  
Brown Adipose ◽  
Treatment Of Obesity ◽  
And Function

Brown adipose tissue (BAT) has long been described according to its histological features as a multilocular, lipid-containing tissue, light brown in color, that is also responsive to the cold and found especially in hibernating mammals and human infants. Its presence in both hibernators and human infants, combined with its function as a heat-generating organ, raised many questions about its role in humans. Early characterizations of the tissue in humans focused on its progressive atrophy with age and its apparent importance for cold-exposed workers. However, the use of positron emission tomography (PET) with the glucose tracer [18F]fluorodeoxyglucose ([18F]FDG) made it possible to begin characterizing the possible function of BAT in adult humans, and whether it could play a role in the prevention or treatment of obesity and type 2 diabetes (T2D). This review focuses on the in vivo functional characterization of human BAT, the methodological approaches applied to examine these features and addresses critical gaps that remain in moving the field forward. Specifically, we describe the anatomical and biomolecular features of human BAT, the modalities and applications of non-invasive tools such as PET and magnetic resonance imaging coupled with spectroscopy (MRI/MRS) to study BAT morphology and function in vivo, and finally describe the functional characteristics of human BAT that have only been possible through the development and application of such tools.

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