Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The cysteine-rich region of type VII collagen is a cystine knot with a new topology.
[dystrophic epidermolysis bullosa]
Collagens
are
a
group
of
extracellular
matrix
proteins
with
essential
functions
for
skin
integrity
.
Anchoring
fibrils
are
made
of
type
VII
collagen
(
Col
7
)
and
link
different
skin
layers
together
:
the
basal
lamina
and
the
underlying
connective
tissue
.
Col
7
has
a
central
collagenous
domain
and
two
noncollagenous
domains
located
at
the
N
and
C
terminus
(
NC
1
and
NC
2
)
,
respectively
.
A
cysteine-rich
region
of
hitherto
unknown
function
is
located
at
the
transition
of
the
NC
1
domain
to
the
collagenous
domain
.
A
synthetic
model
peptide
of
this
region
was
investigated
by
CD
and
NMR
spectroscopy
.
The
peptide
folds
into
a
collagen
triple
helix
,
and
the
cysteine
residues
form
disulfide
bridges
between
the
different
strands
.
The
eight
cystine
knot
topologies
that
are
characterized
by
exclusively
intermolecular
disulfide
bridges
have
been
analyzed
by
molecular
modeling
.
Two
cystine
knots
are
energetically
preferred
;
however
,
all
eight
disulfide
bridge
arrangements
are
essentially
possible
.
This
novel
cystine
knot
is
present
in
type
IX
collagen
,
too
.
The
conserved
motif
of
the
cystine
knot
is
CX
3
CP
.
The
cystine
knot
is
N-
terminal
to
the
collagen
triple
helix
in
both
collagens
and
therefore
probably
impedes
unfolding
of
the
collagen
triple
helix
from
the
N
terminus
.
Diseases
Validation
Diseases presenting
"skin integrity"
symptom
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
junctional epidermolysis bullosa
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom