Báo cáo khoa học: Acute intermittent porphyria – impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties pdf
... identification
and expression of exonic mutations in the hydrox-
ymethylbilane synthase gene. An initiation codon mis-
sense mutation in the housekeeping transcript causes
‘variant acute intermittent porphyria ... were offered screening for the
individual mutation.
To study the impact of the various mutations on
protein structure and functional consequen...
... roles in the induction of
mitochondria-mediated apoptosis and the inhibition of invasion, along with
the downregulation of matrix metalloproteinase expression. In addition, by
using the calcium indicator ... cells on the bottom of the Matrigel-coated inserts. The number of invasive cells was
determined by counting the number of stained cells and then norm...
... function of reac-
tion time, at a fixed concentration of protein, by varying
nucleotide cofactor conditions. The reaction was the
fastest when it contained ATP, where within about
10 0–1 50 s the ... function of OsDmc1
protein concentration (Fig. 4A, lines 2 and 3). How-
ever, at concentrations higher than 2.5 lm OsDmc1,
there was only an increase in the rate, but no fur...
...
the pen. In the remote control version, the recog-
nizer can also be activated using a button on the
remote control. The main section of the search
display (Figure 2) contains two panels. The ... used the tablet and then the re-
mote control and the other half used the remote
1
Here we report results for the wireless microphone only.
Analysis of the...
... reduction and oxidation of the cytochrome
hemes with analogues of physiological quinones, using
menadione as an analogue of menaquinone and duro-
quinone as an analogue of ubiquinone, and comparing ... four kinetic
phases in the reduction of the hemes by menaquinol.
According to the quinone type used, the two hemes of
the cytochrome are probably involved in...
... showed the concentration-dependent effect of
bilayer disruption, based on the different thermotrophic
phase behaviours and the shapes of the thermal phase-
transition curves obtained. The kinetics of ... location, and aggregation state of
peptides in their lipid-bound state by analysis of the thermal
transitions that these peptide–lipid interactions generate and...
... upmod-
ulation and downmodulation of the linking intermedi-
ate concentration in the range of feasible values, and
measurement of this concentration and the correspond-
ing values of the rates. ... corresponding modules, the effect of changing
supply being much smaller. In addition, the change in
one of the demand rates does not severely affect the
flux...
... concentration in a metabolic path-
way as a function of the kinetic constants of the enzymes
involved in that pathway [3]. Application of this method
pointed to the inhibition of the rate of synthesis of ... could affect the actual concentration of ATP
and hence the rate of synthesis of inosine. It is here assumed
that the complex processes of syntheses...
... ER protein (calnexin) and cytoskeleton
protein (tubulin) in these cells as the internal control
proteins. The calnexin and tubulin levels were found to
be similar between these cells, confirming ... ⁄ ))]. These results indicate
that a functional deletion of Synoviolin causes a change
in the intracellular trafficking of NCT.
Effect of Synoviolin on the production...
... within the range of normality (96 and
134%, respectively). Both parents were asymptomatic.
Mutational screening
The entire coding region, including exon–intron
boundaries and $ 300 bp of the ... one
residue following the cleavage site of FXI (P2¢ posi-
tion, according to the convention of numbering posi-
tion around the scissile bond), thus is part of the
activatio...