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Potent and selective activity-based probes for GH27 human retaining α-galactosidases.
[fabry disease]
Lysosomal
degradation
of
glycosphingolipids
is
mediated
by
the
consecutive
action
of
several
glycosidases
.
Malfunctioning
of
one
of
these
hydrolases
can
lead
to
a
lysosomal
storage
disorder
such
as
Fabry
disease
,
which
is
caused
by
a
deficiency
in
α-galactosidase
A
.
Herein
we
describe
the
development
of
potent
and
selective
activity-based
probes
that
target
retaining
α-galactosidases
.
The
fluorescently
labeled
aziridine-based
probes
3
and
4
inhibit
the
two
human
retaining
α-galactosidases
αGal
A
and
αGal
B
covalently
and
with
high
affinity
.
Moreover
,
they
enable
the
visualization
of
the
endogenous
activity
of
both
α-galactosidases
in
cell
extracts
,
thereby
providing
a
means
to
study
the
presence
and
location
of
active
enzyme
levels
in
different
cell
types
,
such
as
healthy
cells
versus
those
derived
from
Fabry
patients
.
Diseases
Validation
Diseases presenting
"high affinity"
symptom
cushing syndrome
fabry disease
gm1 gangliosidosis
omenn syndrome
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