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Reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix.
[epidermolysis bullosa simplex]
Lysyl
hydroxylase
3
(
LH
3
)
is
a
multifunctional
enzyme
possessing
lysyl
hydroxylase
,
collagen
galactosyltransferase
,
and
glucosyltransferase
(
GGT
)
activities
.
We
report
here
an
important
role
for
LH
3
in
the
organization
of
the
extracellular
matrix
(
ECM
)
and
cytoskeleton
.
Deposition
of
ECM
was
affected
in
heterozygous
LH
3
knock-out
mouse
embryonic
fibroblasts
(
MEF
(
+
/
-
)
)
and
in
skin
fibroblasts
collected
from
a
member
of
a
Finnish
epidermolysis
bullosa
simplex
(
EBS
)
family
known
to
be
deficient
in
GGT
activity
.
We
show
the
GGT
deficiency
to
be
due
to
a
transcriptional
defect
in
one
LH
3
allele
.
The
ECM
abnormalities
also
lead
to
defects
in
the
arrangement
of
the
cytoskeleton
in
both
cell
lines
.
Ultrastructural
abnormalities
were
observed
in
the
skin
of
heterozygous
LH
3
knock-out
mice
indicating
that
even
a
moderate
decrease
in
LH
3
has
deleterious
consequences
in
vivo
.
The
LH
3
null
allele
in
the
EBS
family
member
and
the
resulting
abnormalities
in
the
organization
of
the
extracellular
matrix
,
similar
to
those
found
in
MEF
(
+
/
-
)
,
may
explain
the
correlation
between
the
severity
of
the
phenotype
and
the
decrease
in
GGT
activity
reported
in
this
family
.
Diseases
Validation
Diseases presenting
"skin fibroblasts"
symptom
child syndrome
cowden syndrome
cystinuria
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
krabbe disease
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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