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SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.
[neuralgic amyotrophy]
SEPT
9
is
a
member
of
the
cytoskeleton-related
septin
family
,
which
is
highly
expressed
in
glia
cells
in
neuronal
tissues
.
Sequence
alterations
in
SEPT
9
are
known
to
cause
hereditary
neuralgic
amyotrophy
(
HNA
)
but
precise
cellular
consequences
have
yet
to
be
determined
.
Since
SEPT
9
is
thought
to
function
through
interaction
with
other
septins
and
small
GTPase
Rho-mediated
signaling
,
we
analyzed
the
properties
of
HNA-associated
SEPT
9
missense
variants
,
SEPT
9
F
(
c
.
278
C
>
T
/
p
.
Ser
93
P
he
in
SEPT
9
_
v
3
;
NM
_
006640
.
3
)
and
SEPT
9
W
(
c
.
262
C
>
T
/
p
.
Arg
88
T
rp
in
SEPT
9
_
v
3
)
.
We
found
both
sequence
variants
,
but
not
the
wild
type
,
to
form
filaments
with
SEPT
4
along
stress
fibers
in
mesenchymal
mouse
mammary
gland
NMuMG
cells
.
In
the
epithelial
cells
,
the
variants
,
but
not
the
wild
type
,
were
colocalized
with
SEPT
11
at
cell-cell
junctions
.
In
addition
,
although
septin
filaments
containing
SEPT
9
_
v
3
were
disrupted
by
Rho
/
Rhotekin
signaling
,
this
was
not
the
case
with
SEPT
9
F
and
SEPT
9
W
.
Sequence
variations
in
SEPT
9
causing
HNA
are
thus
likely
to
alter
modes
of
interaction
with
partner
molecules
in
cells
,
and
consequently
contribute
to
the
pathogenesis
of
HNA
.
Diseases
Validation
Diseases presenting
"neuronal tissues"
symptom
neuralgic amyotrophy
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