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Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.
[neonatal adrenoleukodystrophy]
The
peroxisome
biogenesis
disorders
(
PBDs
)
,
including
Zellweger
syndrome
(
ZS
)
and
neonatal
adrenoleukodystrophy
(
NALD
)
,
are
autosomal
recessive
diseases
caused
by
defects
in
peroxisome
assembly
,
for
which
at
least
10
complementation
groups
have
been
reported
.
We
have
isolated
a
human
PEX
1
cDNA
(
HsPEX
1
)
by
functional
complementation
of
peroxisome
deficiency
of
a
mutant
Chinese
hamster
ovary
(
CHO
)
cell
line
,
ZP
1
07
,
transformed
with
peroxisome
targeting
signal
type
1
-
tagged
"
enhanced
"
green
fluorescent
protein
.
This
cDNA
encodes
a
hydrophilic
protein
(
Pex
1
p
)
comprising
1
,
283
amino
acids
,
with
high
homology
to
the
AAA-
type
ATPase
family
.
A
stable
transformant
of
ZP
1
07
with
HsPEX
1
was
morphologically
and
biochemically
restored
for
peroxisome
biogenesis
.
HsPEX
1
expression
restored
peroxisomal
protein
import
in
fibroblasts
from
three
patients
with
ZS
and
NALD
of
complementation
group
I
(
CG-
I
)
,
which
is
the
highest-incidence
PBD
.
A
CG-
I
ZS
patient
(
PBDE-
04
)
possessed
compound
heterozygous
,
inactivating
mutations
:
a
missense
point
mutation
resulting
in
Leu
-
664
-
-
>
Pro
and
a
deletion
of
the
sequence
from
Gly-
634
to
His-
690
presumably
caused
by
missplicing
(
splice
site
mutation
)
.
Both
PBDE-
04
PEX
1
cDNAs
were
defective
in
peroxisome-restoring
activity
when
expressed
in
the
patient
fibroblasts
as
well
as
in
ZP
1
07
cells
.
These
results
demonstrate
that
PEX
1
is
the
causative
gene
for
CG-
I
peroxisomal
disorders
.
Diseases
Validation
Diseases presenting
"for which at least 10 complementation groups have been reported"
symptom
neonatal adrenoleukodystrophy
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