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Human liver peroxisomal alanine:glyoxylate aminotransferase: characterization of the two allelic forms and their pathogenic variants.
[primary hyperoxaluria type 1]
The
hepatic
peroxisomal
alanine
:
glyoxylate
aminotransferase
(
AGT
)
is
a
pyridoxal
5
'
-
phosphate
(
PLP
)
-
enzyme
whose
deficiency
is
responsible
for
Primary
Hyperoxaluria
Type
1
(
PH
1
)
,
an
autosomal
recessive
disorder
.
In
the
last
few
years
the
knowledge
of
the
characteristics
of
AGT
and
the
transfer
of
this
information
into
some
pathogenic
variants
have
significantly
contributed
to
the
improvement
of
the
understanding
at
the
molecular
level
of
the
PH
1
pathogenesis
.
In
this
review
,
the
spectroscopic
features
,
the
coenzyme
's
binding
affinity
,
the
steady-
state
kinetic
parameters
as
well
as
the
sensitivity
to
thermal
and
chemical
stress
of
the
two
allelic
forms
of
AGT
,
the
major
(
AGT
-Ma
)
and
the
minor
(
AGT
-Mi
)
allele
,
have
been
described
.
Moreover
,
we
summarize
the
characterization
obtained
by
means
of
biochemical
and
bioinformatic
analyses
of
the
following
PH
1
-
causing
variants
in
the
recombinant
purified
forms
:
G
8
2
E
associated
with
the
major
allele
,
F
152
I
encoded
on
the
background
of
the
minor
allele
,
and
the
G
41
mutants
which
co
-segregate
either
with
the
major
allele
(
G
41
R
-Ma
and
G
41
V
-Ma
)
or
with
the
minor
allele
(
G
41
R
-Mi
)
.
The
data
have
been
correlated
with
previous
clinical
and
cell
biology
results
,
which
allow
us
to
(
i
)
highlight
the
functional
differences
between
AGT
-Ma
and
AGT
-Mi
,
(
ii
)
identify
the
structural
and
functional
molecular
defects
of
the
pathogenic
variants
,
(
iii
)
improve
the
correlation
between
the
genotype
and
the
enzymatic
phenotype
,
(
iv
)
foresee
or
understand
the
molecular
basis
of
the
responsiveness
to
pyridoxine
treatment
of
patients
bearing
these
mutations
,
and
(
v
)
pave
the
way
for
new
treatment
strategies
.
This
article
is
part
of
a
Special
Issue
entitled
:
Pyridoxal
Phospate
Enzymology
.
Diseases
Validation
Diseases presenting
"f152i encoded on the background of the minor allele"
symptom
primary hyperoxaluria type 1
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