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[Peroxisomal ABC transporters and X-linked adrenoleukodystrophy].
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
a
complex
neurodegenerative
disease
associated
with
mutations
in
the
ABCD
1
gene
,
which
encodes
for
a
peroxisomal
ABC
transporter
.
Thanks
to
the
efforts
of
the
ELA
foundation
and
to
the
recent
successes
of
gene
therapy
published
in
Science
in
2009
,
X-
ALD
is
better
known
but
still
remains
poorly
understood
.
The
exact
role
of
ABCD
1
and
its
homologs
,
as
well
as
the
exact
link
between
the
biochemical
and
metabolic
peroxisomal
defects
and
the
clinical
symptoms
of
the
disease
remain
to
be
elucidated
.
This
review
summarizes
the
knowledge
concerning
the
subfamily
D
of
the
ABC
transporter
family
and
concerning
X-
ALD
,
the
most
frequent
peroxisomal
disorder
.