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[Intermediate-filament-associated diseases].
[alexander disease]
Intracellular
protein
filaments
intermediate
in
size
between
actin
filaments
and
microtubules
are
composed
of
a
variety
of
tissue
specific
proteins
.
The
sequence
conservation
of
the
coiled-coil
alpha-helical
structure
responsible
for
polymerization
into
individual
10
nm
filaments
defines
a
large
gene
family
.
Intermediate
filaments
(
IFs
)
include
the
nuclear
lamins
,
which
are
universal
in
Metazoans
,
and
the
cytoplasmic
intermediate
filaments
,
which
are
more
varied
and
form
cell
type
specific
networks
in
animal
cells
.
IFs
all
share
a
common
tripartite
structure
consisting
of
a
highly
conserved
central
helical
rod
domain
and
variable
N-
head
and
C-
tail
domains
.
In
contrast
to
actin
and
tubulin
,
IFs
do
not
require
nucleoside
triphosphates
such
as
ATP
or
GTP
for
polymerization
but
they
self
assemble
.
According
to
sequences
,
the
IFs
proteins
are
grouped
into
seven
classes
,
including
five
cytoplasmic
,
one
nuclear
and
one
sub-
cortical
localizations
.
The
search
for
functions
of
IFs
has
led
to
discoveries
of
roles
in
the
skin
,
heart
,
muscle
,
liver
and
brain
,
in
premature
aging
and
of
involvement
in
several
degenerative
disorders
.
Mutations
in
IFs
cause
or
predispose
to
more
than
80
human
tissue-
specific
diseases
.
Mouse
models
and
gene
invalidation
have
been
extremely
helpful
in
eliciting
IF
role
in
physiopathology
.
Besides
mechanical
role
in
cell
plasticity
and
stress
absorbers
,
IF
functions
are
related
to
the
capacity
to
interact
with
signaling
molecules
and
cell
kinases
,
controlling
gene
regulatory
networks
.
The
reviews
herein
include
a
historical
perspective
about
IFs
,
describe
how
mutations
affect
IF
structure
and
assembly
properties
in
desminopathies
,
inclusion
formation
in
the
neurodegenerative
Alexander
disease
,
and
how
they
induce
multiple
disorders
in
laminopathies
.
Diseases
Validation
Diseases presenting
"which are more varied and form cell type specific networks in animal cells"
symptom
alexander disease
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