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Conquering the complex world of human septins: implications for health and disease.
[neuralgic amyotrophy]
Septins
are
highly
conserved
filamentous
proteins
first
characterized
in
budding
yeast
and
subsequently
identified
in
must
eukaryotes
.
Septins
can
bind
and
hydrolyze
GTP
,
which
is
intrinsically
related
to
their
formation
of
septin
hexamers
and
functional
protein
interactions
.
The
human
septin
family
is
composed
of
14
loci
,
SEPT
1
-
SEPT
14
,
which
encode
dozens
of
different
septin
proteins
.
Their
central
GTPase
and
polybasic
domain
regions
are
highly
conserved
but
they
diverge
in
their
N-
terminus
and
/
or
C-
terminus
.
The
mechanism
by
which
the
different
isoforms
are
generated
is
not
yet
well
understood
,
but
one
can
hypothesize
that
the
use
of
different
promoters
and
/
or
alternative
splicing
could
give
rise
to
these
variants
.
Septins
perform
diverse
cellular
functions
according
to
tissue
expression
and
their
interacting
partners
.
Functions
identified
to
date
include
cell
division
,
chromosome
segregation
,
protein
scaffolding
,
cellular
polarity
,
motility
,
membrane
dynamics
,
vesicle
trafficking
,
exocytosis
,
apoptosis
,
and
DNA
damage
response
.
Their
expression
is
tightly
regulated
to
maintain
proper
filament
assembly
and
normal
cellular
functions
.
Alterations
of
these
proteins
,
by
mutation
or
expression
changes
,
have
been
associated
with
a
variety
of
cancers
and
neurological
diseases
.
The
association
of
septins
with
cancer
results
from
alterations
of
expression
in
solid
tumors
or
translocations
in
leukemias
[
mixed
lineage
leukemia
(
MLL
)
]
.
Expression
changes
in
septins
have
also
been
associated
with
neurological
conditions
such
as
Alzheimer
's
and
Parkinson
's
disease
,
as
well
as
retinopathies
,
hepatitis
C
,
spermatogenesis
and
Listeria
infection
.
Pathogenic
mutations
of
SEPT
9
were
identified
in
the
autosomal
dominant
neurological
disorder
hereditary
neuralgic
amyotrophy
(
HNA
)
.
Human
septin
research
over
the
past
decade
has
established
their
importance
in
cell
biology
and
human
disease
.
Further
functional
characterization
of
septins
is
crucial
to
our
understanding
of
their
possible
diagnostic
,
prognostic
,
and
therapeutic
applications
.
Diseases
Validation
Diseases presenting
"a variety of cancers"
symptom
neuralgic amyotrophy
oral submucous fibrosis
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