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CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.
[harlequin ichthyosis]
CGI-
58
is
the
causative
molecule
underlying
Dorfman-
Chanarin
syndrome
,
a
neutral
lipid
storage
disease
exhibiting
apparent
clinical
features
of
ichthyosis
.
CGI-
58
,
associated
with
triacylglycerol
hydrolysis
,
has
an
alpha
/
beta
-hydrolase
fold
and
is
also
known
as
the
alpha
/
beta
-hydrolase
domain-containing
protein
5
.
The
purpose
of
this
study
was
to
elucidate
the
function
of
CGI-
58
and
the
pathogenic
mechanisms
of
ichthyosis
in
Dorfman-
Chanarin
syndrome
.
Using
an
anti-
CGI-
58
antibody
,
we
found
CGI-
58
to
be
expressed
in
the
upper
epidermis
,
predominantly
in
the
granular
layer
cells
,
as
well
as
in
neurons
and
hepatocytes
.
Immunoelectron
microscopy
revealed
that
CGI-
58
was
also
localized
to
the
lamellar
granules
(
LGs
)
,
which
are
lipid
transport
and
secretion
granules
found
in
keratinocytes
.
CGI-
58
expression
was
markedly
reduced
in
the
epidermis
of
patients
with
harlequin
ichthyosis
,
demonstrating
defective
LG
formation
.
In
cultured
keratinocytes
,
CGI-
58
expression
was
mildly
up-regulated
under
high
Ca
(
2
+
)
conditions
and
markedly
up-regulated
in
three
-dimensional
,
organotypic
cultures
.
In
the
developing
human
epidermis
,
CGI-
58
immunostaining
was
observed
at
an
estimated
gestational
age
of
49
days
,
and
CGI-
58
mRNA
expression
was
up-regulated
concomitantly
with
both
epidermal
stratification
and
keratinocyte
differentiation
.
CGI-
58
knockdown
reduced
expression
of
keratinocyte
differentiation
/
keratinization
markers
in
cultured
human
keratinocytes
.
Our
results
indicate
that
CGI-
58
is
expressed
and
packaged
into
LGs
during
keratinization
and
likely
plays
crucial
role
(
s
)
in
keratinocyte
differentiation
and
LG
lipid
metabolism
,
contributing
to
skin
lipid
barrier
formation
.
Diseases
Validation
Diseases presenting
"cultured human keratinocytes"
symptom
harlequin ichthyosis
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