Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease.
[gm1 gangliosidosis]
The
lysosomal
system
comprises
a
specialized
network
of
organelles
crucial
for
the
sorting
,
digestion
,
recycling
and
secretion
of
cellular
components
.
With
their
content
of
hydrolytic
enzymes
,
lysosomes
regulate
the
degradation
of
a
multitude
of
substrates
that
reach
these
organelles
via
the
biosynthetic
or
the
endocytic
route
.
Gene
defects
that
affect
one
or
more
of
these
hydrolases
lead
to
LSDs
(
lysosomal
storage
diseases
)
.
This
underscores
the
apparent
lack
of
redundancy
of
these
enzymes
and
the
importance
of
the
lysosomal
system
in
cell
and
tissue
homoeostasis
.
Some
of
the
lysosomal
enzymes
may
form
multiprotein
complexes
,
which
usually
work
synergistically
on
substrates
and
,
in
this
configuration
,
may
respond
more
efficiently
to
changes
in
substrate
load
and
composition
.
A
well-characterized
lysosomal
multienzyme
complex
is
the
one
comprising
the
glycosidases
β-gal
(
β-galactosidase
)
and
NEU
1
(
neuramidase-
1
)
,
and
of
the
serine
carboxypeptidase
PPCA
(
protective
protein
/
cathepsin
A
)
.
Three
neurodegenerative
LSDs
are
caused
by
either
single
or
combined
deficiency
of
these
lysosomal
enzymes
.
Sialidosis
(
NEU
1
deficiency
)
and
galactosialidosis
(
combined
NEU
1
and
β-gal
deficiency
,
secondary
to
a
primary
defect
of
PPCA
)
belong
to
the
glycoprotein
storage
diseases
,
whereas
GM
1
-
gangliosidosis
(
β-gal
deficiency
)
is
a
glycosphingolipid
storage
disease
.
Identification
of
novel
molecular
pathways
that
are
deregulated
because
of
loss
of
enzyme
activity
and
/
or
accumulation
of
specific
metabolites
in
various
cell
types
has
shed
light
on
mechanisms
of
disease
pathogenesis
and
may
pave
the
way
for
future
development
of
new
therapies
for
these
LSDs
.
Diseases
Validation
Diseases presenting
"may pave the way for future development of new therapies for these lsds"
symptom
gm1 gangliosidosis
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom