Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Kindlin-1 regulates integrin dynamics and adhesion turnover.
[kindler syndrome]
Loss
-of-function
mutations
in
the
gene
encoding
the
integrin
co
-activator
kindlin-
1
cause
Kindler
syndrome
.
We
report
a
novel
kindlin-
1
-
deficient
keratinocyte
cell
line
derived
from
a
Kindler
syndrome
patient
.
Despite
the
expression
of
kindlin-
2
,
the
patient
's
cells
display
several
hallmarks
related
to
reduced
function
of
β
1
integrins
,
including
abnormal
cell
morphology
,
cell
adhesion
,
cell
spreading
,
focal
adhesion
assembly
,
and
cell
migration
.
Defective
cell
adhesion
was
aggravated
by
kindlin-
2
depletion
,
indicating
that
kindlin-
2
can
compensate
to
a
certain
extent
for
the
loss
of
kindlin-
1
.
Intriguingly
,
β
1
at
the
cell-surface
was
aberrantly
glycosylated
in
the
patient
's
cells
,
and
its
expression
was
considerably
reduced
,
both
in
cells
in
vitro
and
in
the
patient
's
epidermis
.
Reconstitution
with
wild-
type
kindlin-
1
but
not
with
a
β
1
-
binding
defective
mutant
restored
the
aberrant
β
1
expression
and
glycosylation
,
and
normalized
cell
morphology
,
adhesion
,
spreading
,
and
migration
.
Furthermore
,
the
expression
of
wild-
type
kindlin-
1
,
but
not
of
the
integrin-binding-
defective
mutant
,
increased
the
stability
of
integrin-mediated
cell-matrix
adhesions
and
enhanced
the
redistribution
of
internalized
integrins
to
the
cell
surface
.
Thus
,
these
data
uncover
a
role
for
kindlin-
1
in
the
regulation
of
integrin
trafficking
and
adhesion
turnover
.
Diseases
Validation
Diseases presenting
"enhanced the redistribution of internalized integrins to the cell surface"
symptom
kindler syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom