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A random Abstract
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HSPB2/MKBP, a novel and unique member of the small heat-shock protein family.
[hereditary cerebral hemorrhage with amyloidosis]
Although
proteins
belonging
to
the
sHSP
superfamily
are
diverse
in
sequence
and
size
,
most
share
characteristic
features
,
including
1
)
a
small
molecular
mass
of
12
-
43
kDa
,
2
)
a
conserved
alpha-crystallin
domain
of
80
-
100
residues
,
3
)
formation
of
large
oligomers
,
4
)
a
dynamic
quaternary
structure
,
and
5
)
induction
by
stress
conditions
and
chaperone
activity
in
suppressing
protein
aggregation
.
HSPB
2
/
MKBP
(
myotonic
dystrophy
kinase-bind-protein
)
retains
the
structural
motif
of
the
alpha-crystallin
family
of
HSPs
but
shows
a
unique
nature
compared
with
canonical
family
members
,
characterized
by
gene
allocation
,
specific
binding
partners
in
skeletal
muscle
,
and
unique
stress
responsiveness
.
MKBP
may
be
involved
in
the
pathogenesis
of
myotonic
dystrophy
and
contribute
to
the
neuropathology
in
both
Alzheimer
's
disease
and
hereditary
cerebral
hemorrhage
with
amyloidosis
,
Dutch
type
.
Diseases
Validation
Diseases presenting
"skeletal muscle"
symptom
cadasil
epidermolysis bullosa simplex
esophageal adenocarcinoma
focal myositis
hereditary cerebral hemorrhage with amyloidosis
inclusion body myositis
lamellar ichthyosis
neuralgic amyotrophy
pleomorphic liposarcoma
pyomyositis
pyruvate dehydrogenase deficiency
systemic capillary leak syndrome
well-differentiated liposarcoma
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