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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
"skeletal muscle"
symptom
cadasil
epidermolysis bullosa simplex
esophageal adenocarcinoma
focal myositis
hereditary cerebral hemorrhage with amyloidosis
inclusion body myositis
lamellar ichthyosis
neuralgic amyotrophy
pleomorphic liposarcoma
pyomyositis
pyruvate dehydrogenase deficiency
systemic capillary leak syndrome
well-differentiated liposarcoma
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