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Structural and functional mechanisms of CRAC channel regulation.
[severe combined immunodeficiency]
In
many
animal
cells
,
stimulation
of
cell
surface
receptors
coupled
to
G
proteins
or
tyrosine
kinases
mobilizes
Ca
(
2
+
)
influx
through
store-operated
Ca
(
2
+
)
release-activated
Ca
(
2
+
)
(
CRAC
)
channels
.
The
ensuing
Ca
(
2
+
)
entry
regulates
a
wide
variety
of
effector
cell
responses
including
transcription
,
motility
,
and
proliferation
.
The
physiological
importance
of
CRAC
channels
for
human
health
is
underscored
by
studies
indicating
that
mutations
in
CRAC
channel
genes
produce
a
spectrum
of
devastating
diseases
including
chronic
inflammation
,
muscle
weakness
,
and
a
severe
combined
immunodeficiency
syndrome
.
Moreover
,
from
a
basic
science
perspective
,
CRAC
channels
exhibit
a
unique
biophysical
fingerprint
characterized
by
exquisite
Ca
(
2
+
)
-
selectivity
,
store-operated
gating
,
and
distinct
pore
properties
and
therefore
serve
as
fascinating
ion
channels
for
understanding
the
biophysical
mechanisms
of
ion
permeation
and
gating
.
Studies
in
the
last
two
decades
have
revealed
the
cellular
and
molecular
choreography
of
the
CRAC
channel
activation
process
,
and
it
is
now
established
that
opening
of
CRAC
channels
is
governed
through
direct
interactions
between
the
pore-forming
Orai
proteins
,
and
the
ER
Ca
(
2
+
)
sensors
,
STIM
1
and
STIM
2
.
In
this
review
,
we
summarize
the
functional
and
structural
mechanisms
of
CRAC
channel
regulation
,
focusing
on
recent
advances
in
our
understanding
of
the
conformational
and
structural
dynamics
of
CRAC
channel
gating
.
Diseases
Validation
Diseases presenting
"wide variety"
symptom
alexander disease
allergic bronchopulmonary aspergillosis
cadasil
erythropoietic protoporphyria
esophageal carcinoma
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
junctional epidermolysis bullosa
lamellar ichthyosis
lymphangioleiomyomatosis
oral submucous fibrosis
pleomorphic liposarcoma
proteus syndrome
severe combined immunodeficiency
x-linked adrenoleukodystrophy
zellweger syndrome
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