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The many faces of plectin and plectinopathies: pathology and mechanisms.
[epidermolysis bullosa simplex]
Plectin
,
a
giant
multifunctional
cytolinker
protein
,
plays
a
crucial
role
in
stabilizing
and
orchestrating
intermediate
filament
networks
in
cells
.
Mutations
in
the
human
plectin
gene
result
in
multiple
diseases
manifesting
with
muscular
dystrophy
,
skin
blistering
,
and
signs
of
neuropathy
.
The
most
common
disease
caused
by
plectin
deficiency
is
epidermolysis
bullosa
simplex
(
EBS
)
-
MD
,
a
rare
autosomal-recessive
skin
blistering
disorder
with
late-onset
muscular
dystrophy
.
EBS-
MD
patients
and
plectin
-
deficient
mice
display
pathologic
desmin
-
positive
protein
aggregates
,
degenerated
myofibrils
,
and
mitochondrial
abnormalities
,
the
hallmarks
of
myofibrillar
myopathies
.
In
addition
to
EBS-
MD
,
plectin
mutations
have
been
shown
to
cause
EBS-
MD
with
a
myasthenic
syndrome
,
limb-girdle
muscular
dystrophy
type
2
Q
,
EBS
with
pyloric
atresia
,
and
EBS
-Ogna
.
This
review
focuses
on
clinical
and
pathological
manifestations
of
these
plectinopathies
.
It
addresses
especially
plectin
's
role
in
skeletal
muscle
,
where
a
loss
of
muscle
fiber
integrity
and
profound
changes
of
myofiber
cytoarchitecture
are
observed
in
its
absence
.
Furthermore
,
the
highly
complex
genetic
and
molecular
structure
of
plectin
is
discussed
;
a
high
number
of
differentially
spliced
exons
give
rise
to
a
variety
of
different
isoforms
,
which
fulfill
distinct
functions
in
different
cell
types
and
tissues
.
Plectin
's
abilities
to
act
as
a
dynamic
organizer
of
intermediate
filament
networks
and
to
interact
with
a
multitude
of
different
interaction
partners
are
the
basis
for
its
function
as
a
scaffolding
platform
for
proteins
involved
in
signaling
.
Finally
,
the
article
addresses
a
series
of
genetically
manipulated
mouse
lines
that
were
generated
to
serve
as
powerful
models
to
study
functional
and
molecular
consequences
of
plectin
gene
defects
.
Diseases
Validation
Diseases presenting
"genetically manipulated mouse lines"
symptom
epidermolysis bullosa simplex
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