Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Purification of human wild-type or variant cystatin C from conditioned media of transfected cells.
[hereditary cerebral hemorrhage with amyloidosis]
The
characterization
of
proteins
in
their
native
state
is
essential
for
the
understanding
of
patho-genic
isoforms
.
A
variant
of
the
cysteine
protease
inhibitor
cystatin
C
is
the
major
constituent
of
the
amyloid
deposited
in
the
cerebral
vasculature
of
patients
with
the
Icelandic
form
of
hereditary
cerebral
hemorrhage
with
amyloidosis
(
HCHWA
-
I
)
.
In
order
to
study
the
nature
of
the
bio-physical
changes
owing
to
the
Leu
68
G
ln
substitution
in
cystatin
C
,
we
have
developed
a
purification
procedure
of
human
cystatin
C
in
its
native
state
.
The
protein
is
isolated
from
media
of
stably
transfected
tissue
culture
cells
using
physiological
conditions
that
preclude
protein
denaturation
.
The
importance
of
mild
purification
conditions
is
underscored
by
the
finding
that
denaturation
of
the
wild-
type
and
variant
proteins
facilitates
a
similar
folding
of
both
molecules
,
diminishing
their
differences
in
structure
and
biophysical
properties
.
Following
native
purification
conditions
,
variant
cystatin
C
has
a
distinct
structure
compared
to
the
wild-
type
protein
.
Diseases
Validation
Diseases presenting
"type protein"
symptom
classical phenylketonuria
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kallmann syndrome
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
waldenström macroglobulinemia
x-linked adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom