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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
"including abnormal cell morphology"
symptom
kindler syndrome
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