Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The vWFA2 domain of type VII collagen is responsible for collagen binding.
[dystrophic epidermolysis bullosa]
Type
VII
collagen
(
Col
7
)
is
the
major
component
of
anchoring
fibrils
and
very
important
for
skin
integrity
.
This
is
emphasized
by
the
Col
7
related
skin
blistering
diseases
dystrophic
epidermolysis
bullosa
and
epidermolysis
bullosa
acquisita
.
Structural
data
that
provides
insights
into
the
interaction
network
of
Col
7
and
thus
providing
a
basis
for
a
better
understanding
of
the
pathogenesis
of
the
diseases
is
missing
.
We
proved
that
the
von
-
Willebrand-
factor
A
like
domain
2
(
vWFA
2
)
of
Col
7
is
responsible
for
type
I
collagen
binding
.
The
interaction
has
a
K
(
D
)
value
of
90
μM
as
determined
by
SPR
and
is
enthalpy
driven
as
derived
from
the
va
n
't
Hoff
equation
.
Furthermore
,
a
hitherto
unknown
interaction
of
this
domain
with
type
IV
collagen
was
identified
.
The
interaction
of
vWFA
2
with
type
I
collagen
is
sensitive
to
the
presence
of
magnesium
ions
,
however
,
vWFA
2
does
not
contain
a
magnesium
binding
site
thus
magnesium
must
bind
to
type
I
collagen
.
A
lysine
residue
has
been
identified
to
be
crucial
for
type
I
collagen
binding
.
This
allowed
localization
of
the
binding
site
.
Mutational
analysis
suggests
different
interaction
mechanisms
in
different
species
and
that
these
interactions
might
be
of
covalent
nature
.
Diseases
Validation
Diseases presenting
"allowed localization of the binding site"
symptom
dystrophic epidermolysis bullosa
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
