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Peroxisome deficient invertebrate and vertebrate animal models.
[zellweger syndrome]
Although
peroxisomes
are
ubiquitous
organelles
in
all
animal
species
,
their
importance
for
the
functioning
of
tissues
and
organs
remains
largely
unresolved
.
Because
peroxins
are
essential
for
the
biogenesis
of
peroxisomes
,
an
obvious
approach
to
investigate
their
physiological
role
is
to
inactivate
a
Pex
gene
or
to
suppress
its
translation
.
This
has
been
performed
in
mice
but
also
in
more
primitive
organisms
including
D
.
melanogaster
,
C
.
elegans
,
and
D
.
rerio
,
and
the
major
findings
and
abnormalities
in
these
models
will
be
highlighted
.
Although
peroxisomes
are
generally
not
essential
for
embryonic
development
and
organogenesis
,
a
generalized
inactivity
of
peroxisomes
affects
lifespan
and
posthatching
/
postnatal
growth
,
proving
that
peroxisomal
metabolism
is
necessary
for
the
normal
maturation
of
these
organisms
.
Strikingly
,
despite
the
wide
variety
of
model
organisms
,
corresponding
tissues
are
affected
including
the
central
nervous
system
and
the
testis
.
By
inactivating
peroxisomes
in
a
cell
type
selective
way
in
the
brain
of
mice
,
it
was
also
demonstrated
that
peroxisomes
are
necessary
to
prevent
neurodegeneration
.
As
these
peroxisome
deficient
model
organisms
recapitulate
pathologies
of
patients
affected
with
peroxisomal
diseases
,
their
further
analysis
will
contribute
to
the
elucidation
of
still
elusive
pathogenic
mechanisms
.
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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