Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Functions of FUS/TLS From DNA Repair to Stress Response: Implications for ALS.
[liposarcoma]
Fused
in
sarcoma
/
translocated
in
liposarcoma
(
FUS
/
TLS
or
FUS
)
is
a
multifunctional
DNA-
/
RNA-binding
protein
that
is
involved
in
a
variety
of
cellular
functions
including
transcription
,
protein
translation
,
RNA
splicing
,
and
transport
.
FUS
was
initially
identified
as
a
fusion
oncoprotein
,
and
thus
,
the
early
literature
focused
on
the
role
of
FUS
in
cancer
.
With
the
recent
discoveries
revealing
the
role
of
FUS
in
neurodegenerative
diseases
,
namely
amyotrophic
lateral
sclerosis
and
frontotemporal
lobar
degeneration
,
there
has
been
a
renewed
interest
in
elucidating
the
normal
functions
of
FUS
.
It
is
not
clear
which
,
if
any
,
endogenous
functions
of
FUS
are
involved
in
disease
pathogenesis
.
Here
,
we
review
what
is
currently
known
regarding
the
normal
functions
of
FUS
with
an
emphasis
on
DNA
damage
repair
,
RNA
processing
,
and
cellular
stress
response
.
Further
,
we
discuss
how
ALS
-causing
mutations
can
potentially
alter
the
role
of
FUS
in
these
pathways
,
thereby
contributing
to
disease
pathogenesis
.
Diseases
Validation
Diseases presenting
"amyotrophic lateral sclerosis"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
dystrophic epidermolysis bullosa
inclusion body myositis
liposarcoma
locked-in syndrome
neuralgic amyotrophy
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated