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The sphingolipid psychosine inhibits fast axonal transport in Krabbe disease by activation of GSK3β and deregulation of molecular motors.
[krabbe disease]
Loss
of
function
of
galactosylceramidase
lysosomal
activity
causes
demyelination
and
vulnerability
of
various
neuronal
populations
in
Krabbe
disease
.
Psychosine
,
a
lipid-raft-associated
sphingolipid
that
accumulates
in
this
disease
,
is
thought
to
trigger
these
abnormalities
.
Myelin-free
in
vitro
analyses
showed
that
psychosine
inhibited
fast
axonal
transport
through
the
activation
of
axonal
PP
1
and
GSK
3
β
in
the
axon
.
Abnormal
levels
of
activated
GSK
3
β
and
abnormally
phosphorylated
kinesin
light
chains
were
found
in
nerve
samples
from
a
mouse
model
of
Krabbe
disease
.
Administration
of
GSK
3
β
inhibitors
significantly
ameliorated
transport
defects
in
vitro
and
in
vivo
in
peripheral
axons
of
the
mutant
mouse
.
This
study
identifies
psychosine
as
a
pathogenic
sphingolipid
able
to
block
fast
axonal
transport
and
is
the
first
to
provide
a
molecular
mechanism
underlying
dying-back
degeneration
in
this
genetic
leukodystrophy
.
Diseases
Validation
Diseases presenting
"demyelination"
symptom
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
homocystinuria without methylmalonic aciduria
kallmann syndrome
krabbe disease
locked-in syndrome
neonatal adrenoleukodystrophy
neuralgic amyotrophy
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
sneddon syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
