Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Functional analysis of cholesterol biosynthesis by RNA interference.
[child syndrome]
Inborn
errors
of
cholesterol
biosynthesis
caused
by
dysfunctionality
of
single
enzymes
are
known
to
cause
severe
malformation
syndromes
like
X-
linked
chondrodysplasia
punctata
(
CDPX
2
)
,
CHILD
syndrome
or
Smith-
Lemli-
Opitz-syndrome
(
SLOS
)
.
In
this
study
we
established
the
method
of
RNA
interference
(
RNAi
)
for
analyzing
the
molecular
mechanisms
underlying
disrupted
cholesterol
biosynthesis
.
For
different
genes
involved
in
the
cholesterol
biosynthesis
pathway-
NAD
(
P
)
dependent
steroid
dehydrogenase-like
(
NSDHL
)
,
17
-
beta
hydroxysteroid
dehydrogenase
type
7
(
HSD
17
B
7
)
and
emopamil
binding
protein
(
EBP
)
-
shRNA
sequences
were
designed
and
tested
for
their
effectiveness
.
For
a
better
comparability
of
the
experiments
and
to
avoid
different
transfection
efficiencies
,
examined
shRNA
sequences
which
reached
a
knock
down
of
at
least
80
%
were
stably
transfected
in
a
HeLa
cell
line
with
a
tetracycline-regulated
expression
(
HeLa
T
-REx
)
.
These
stable
transfected
cell
lines
represent
novel
tools
for
the
analysis
of
cholesterol
biosynthesis
.
Diseases
Validation
Diseases presenting
"disrupted cholesterol biosynthesis. for different genes"
symptom
child syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom