Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Peroxisome biogenesis disorders: genetics and cell biology.
[neonatal adrenoleukodystrophy]
Zellweger
syndrome
,
neonatal
adrenoleukodystrophy
,
infantile
Refsum
disease
and
rhizomelic
chondrodysplasia
punctata
are
progressive
disorders
characterized
by
loss
of
multiple
peroxisomal
metabolic
functions
.
These
diseases
are
inherited
in
an
autosomal
recessive
manner
,
are
caused
by
defects
in
the
import
of
peroxisomal
matrix
proteins
and
are
referred
to
as
the
peroxisome
biogenesis
disorders
(
PBDs
)
.
Recent
studies
have
identified
the
PEX
genes
that
are
mutated
in
11
of
the
12
known
complementation
groups
of
PBD
patients
.
This
article
reviews
these
advances
in
PBD
genetics
and
discusses
how
studies
of
human
PEX
genes
,
their
protein
products
and
PBD
cell
lines
are
shaping
current
models
of
peroxisome
biogenesis
.