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New players in the infertility of a mouse model of lysosomal storage disease: the hypothalamus-pituitary-gonadal axis.
[krabbe disease]
Mammalian
spermatogenesis
is
a
complex
hormone-dependent
developmental
program
where
interactions
between
different
cell
types
are
finely
regulated
.
Mouse
models
in
which
any
of
the
sperm
maturation
steps
are
perturbed
provide
major
insights
into
the
molecular
control
of
spermatogenesis
.
The
Twitcher
mouse
is
a
model
for
the
Krabbe
disease
,
characterized
by
the
deficiency
of
galactosylceramidase
(
GALC
)
,
a
lysosomal
enzyme
that
hydrolyzes
the
terminal
galactose
from
galactosylceramide
,
a
typical
component
of
the
myelin
membrane
.
In
addition
,
GALC
catalyzes
the
hydrolysis
of
the
terminal
galactose
from
galactosyl-alkyl-acyl-glycerol
,
precursor
of
seminolipids
,
specifically
expressed
on
the
membrane
of
germ
cells
.
Previous
data
reported
by
our
group
demonstrated
that
glycolipids
play
an
important
role
in
sperm
maturation
and
differentiation
.
Moreover
,
we
hypothesized
that
the
severe
impairment
of
the
central
nervous
system
that
affects
the
Twitcher
mouse
could
interfere
with
the
hypothalamus-
pituitary
-
gonadal
axis
function
,
contributing
to
infertility
.
To
highlight
this
hypothesis
we
have
determined
,
at
molecular
level
,
the
potential
variation
in
expression
pattern
of
brain
hormones
involved
in
spermatogenesis
regulation
.
Diseases
Validation
Diseases presenting
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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