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Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.
[primary hyperoxaluria type 1]
Alanine-glyoxylate
aminotransferase
catalyzes
the
transamination
between
L-
alanine
and
glyoxylate
to
produce
pyruvate
and
glycine
using
pyridoxal
5
'
-
phosphate
(
PLP
)
as
cofactor
.
Human
alanine-glyoxylate
aminotransferase
is
a
peroxisomal
enzyme
expressed
in
the
hepatocytes
,
the
main
site
of
glyoxylate
detoxification
.
Its
deficit
causes
primary
hyperoxaluria
type
I
,
a
rare
but
severe
inborn
error
of
metabolism
.
Single
amino
acid
changes
are
the
main
type
of
mutation
causing
this
disease
,
and
considerable
effort
has
been
dedicated
to
the
understanding
of
the
molecular
consequences
of
such
missense
mutations
.
In
this
review
,
we
summarize
the
role
of
protein
homeostasis
in
the
basic
mechanisms
of
primary
hyperoxaluria
.
Intrinsic
physicochemical
properties
of
polypeptide
chains
such
as
thermodynamic
stability
,
folding
,
unfolding
,
and
misfolding
rates
as
well
as
the
interaction
of
different
folding
states
with
protein
homeostasis
networks
are
essential
to
understand
this
disease
.
The
view
presented
has
important
implications
for
the
development
of
new
therapeutic
strategies
based
on
targeting
specific
elements
of
alanine-glyoxylate
aminotransferase
homeostasis
.
Diseases
Validation
Diseases presenting
"amino acid changes"
symptom
congenital adrenal hyperplasia
gm1 gangliosidosis
oligodontia
primary hyperoxaluria type 1
werner syndrome
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