Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity.
[canavan disease]
To
verify
the
effect
of
and
to
date
the
unknown
T
677
C
mutation
of
the
human
N-
acetylaspartoacylase
(
hASPA
)
gene
on
the
function
of
the
mutated
enzyme
.
W
ild
type
and
I
226
T
-
mutated
proteins
were
expressed
and
purified
from
a
transformed
Escherichia
coli
colony
.
Enzymatic
activities
were
measured
in
the
presence
of
varying
substrate
concentrations
.
Whilst
kinetic
parameters
of
wild
type
hASPA
were
in
line
with
data
in
literature
,
I
226
T
-
mutated
hASPA
showed
no
enzymatic
activity
.
Data
indicated
that
this
new
mutation
might
be
responsible
in
homozygosis
for
the
phenotype
corresponding
to
Canavan
disease
.
