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The ether lipid-deficient mouse: tracking down plasmalogen functions.
[zellweger syndrome]
Chemical
and
physico-chemical
properties
as
well
as
physiological
functions
of
major
mammalian
ether-linked
glycerolipids
,
including
plasmalogens
were
reviewed
.
Their
chemical
structures
were
described
and
their
effect
on
membrane
fluidity
and
membrane
fusion
discussed
.
The
recent
generation
of
mouse
models
with
ether
lipid
deficiency
offered
the
possibility
to
study
ether
lipid
and
particularly
plasmalogen
functions
in
vivo
.
Ether
lipid-
deficient
mice
revealed
severe
phenotypic
alterations
,
including
arrest
of
spermatogenesis
,
development
of
cataract
and
defects
in
central
nervous
system
myelination
.
In
several
cell
culture
systems
lack
of
plasmalogens
impaired
intracellular
cholesterol
distribution
affecting
plasma
membrane
functions
and
structural
changes
of
ER
and
Golgi
cisternae
.
Based
on
these
phenotypic
anomalies
that
were
accurately
described
conclusions
were
drawn
on
putative
functions
of
plasmalogens
.
These
functions
were
related
to
cell-cell
or
cell-extracellular
matrix
interactions
,
formation
of
lipid
raft
microdomains
and
intracellular
cholesterol
homeostasis
.
There
are
several
human
disorders
,
such
as
Zellweger
syndrome
,
rhizomelic
chondrodysplasia
punctata
,
Alzheimer
's
disease
,
Down
syndrome
,
and
Niemann-
Pick
type
C
disease
that
are
distinguished
by
altered
tissue
plasmalogen
concentrations
.
The
role
plasmalogens
might
play
in
the
pathology
of
these
disorders
is
discussed
.
Diseases
Validation
Diseases presenting
"deficient mice"
symptom
achondroplasia
allergic bronchopulmonary aspergillosis
benign recurrent intrahepatic cholestasis
canavan disease
classical phenylketonuria
cystinuria
epidermolysis bullosa simplex
fabry disease
harlequin ichthyosis
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
junctional epidermolysis bullosa
kallmann syndrome
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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