Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated