Neural Regeneration Research,
Год журнала:
2022,
Номер
18(7), С. 1463 - 1463
Опубликована: Ноя. 18, 2022
Evidence
from
genetics
and
analyzing
cellular
animal
models
have
converged
to
suggest
links
between
neurodegenerative
disorders
of
early
late
life.
Here,
we
summarize
emerging
the
most
common
life
disease,
Alzheimer's
diseases,
neuronal
ceroid
lipofuscinoses.
Genetic
studies
reported
an
overlap
clinically
diagnosed
disease
mutations
in
genes
known
cause
Accumulating
data
strongly
dysfunction
intracellular
trafficking
mechanisms
autophagy-endolysosome
system
both
types
disorders.
This
suggests
shared
cytopathological
processes
underlying
these
different
diseases.
A
better
understanding
diseases
is
important
as
this
might
lead
identification
novel
targets
for
therapeutic
concepts,
transfer
strategies
one
other
approaches
tailored
patients
with
specific
mutations.
review
dysfunctions
endolysosomal
autophagy
pathway
lipofuscinoses
etiologic
genetic
overlaps.
Genes,
Год журнала:
2022,
Номер
13(8), С. 1393 - 1393
Опубликована: Авг. 5, 2022
The
CLN8
disease
type
refers
to
one
of
the
neuronal
ceroid
lipofuscinoses
(NCLs)
which
are
most
common
group
neurodegenerative
diseases
in
childhood.
clinical
phenotypes
this
progressive
neurological
deterioration
that
could
lead
seizures,
dementia,
ataxia,
visual
failure,
and
various
forms
abnormal
movement.
In
current
study,
we
describe
two
patients
who
presented
with
atypical
phenotypic
manifestation
protracted
course
carrying
a
novel
compound
heterozygous
variant
at
gene.
Our
developed
mild
phenotype
disease:
as
they
epilepsy,
cognitive
decline,
learning
disability,
attention-deficit/hyperactivity
disorder
(ADHD),
markedly
motor
decline.
Bioinformatic
analyses
gene
variants
were
carried
out.
Most
seem
likely
act
by
compromising
structural
integrity
regions
within
protein.
This
turn
is
expected
reduce
overall
stability
protein
render
less
active
degrees.
cases
our
study
confirmed
expanded
effect
disease.
Neurobiology of Disease,
Год журнала:
2023,
Номер
189, С. 106349 - 106349
Опубликована: Ноя. 11, 2023
Neuronal
ceroid
lipofuscinosis
(NCL)
is
a
group
of
neurodegenerative
disorders
whose
molecular
mechanisms
remain
largely
unknown.
Omics
approaches
are
among
the
methods
that
generate
new
information
on
modifying
factors
and
signatures.
Moreover,
omics
data
integration
can
address
need
to
progressively
expand
knowledge
around
disease
pinpoint
specific
proteins
promote
as
candidate
biomarkers.
In
this
work,
we
integrated
total
62
proteomic
transcriptomic
datasets
originating
from
humans
mice,
employing
approach
able
define
dysregulated
processes
across
species,
stages
NCL
forms.
selected
pool
differentially
expressed
genes
species-
form-related
biomarkers
status/progression
evaluated
local
spatial
differences
in
most
affected
brain
regions.
Our
results
offer
promising
targets
for
potential
therapeutic
strategies
reinforce
hypothesis
connection
between
NCLs
other
forms
dementia,
particularly
Alzheimer's
disease.
Folia Neuropathologica,
Год журнала:
2024,
Номер
62(1), С. 21 - 31
Опубликована: Янв. 1, 2024
AMA
Felczak
P,
Kuźniar-Pałka
A,
Ługowska
Stawicka
E,
Tarka
S,
Mierzewska
H.
A
current
view
of
mitochondria
damage
and
the
diversity
lipopigment
inclusions
in
neuronal
ceroid
lipofuscinose
type
2
from
rectal
biopsy.
Folia
Neuropathologica.
2024.
doi:10.5114/fn.2023.133795.
APA
Felczak,
P.,
Kuźniar-Pałka,
A.,
Ługowska,
Stawicka,
E.,
Tarka,
S.,
&
Mierzewska,
(2024).
https://doi.org/10.5114/fn.2023.133795
Chicago
Paulina,
Aleksandra
Agnieszka
Elżbieta
Sylwia
Hanna
Mierzewska.
"A
biopsy".
Harvard
MLA
Paulina
et
al.
biopsy."
Neuropathologica,
Vancouver
Frontiers in Genetics,
Год журнала:
2022,
Номер
13
Опубликована: Ноя. 10, 2022
Mutations
in
CLN5
cause
a
subtype
of
neuronal
ceroid
lipofuscinosis
(NCL)
called
disease.
The
NCLs,
commonly
referred
to
as
Batten
disease,
are
family
neurodegenerative
lysosomal
storage
diseases
that
affect
all
ages
and
ethnicities
globally.
Previous
research
showed
participates
variety
cellular
processes.
However,
the
precise
function
cell
pathway(s)
regulating
its
not
well
understood.
In
model
organism
Dictyostelium
discoideum,
loss
homolog,
cln5,
impacts
various
developmental
processes
including
proliferation,
cytokinesis,
aggregation,
adhesion,
terminal
differentiation.
this
study,
we
used
comparative
transcriptomics
identify
differentially
expressed
genes
underlying
cln5-deficiency
phenotypes
during
growth
early
stages
multicellular
development.
During
growth,
associated
with
protein
ubiquitination/deubiquitination,
cycle
progression,
proteasomal
degradation
were
affected,
while
linked
carbohydrate
catabolism
affected
We
followed
up
analysis
by
showing
cln5
alters
intracellular
extracellular
amounts
proliferation
repressors
increases
amount
conditioned
medium
factor,
which
regulates
cAMP
signalling
Additionally,
-
cells
displayed
increased
discoidin,
is
involved
cell-substrate
adhesion
migration.
work
mammalian
models
reported
altered
enzyme
activity
due
mutation
or
CLN5.
Here,
detected
activities
enzymes
cathepsins
starvation.
Notably,
reduced
β-hexosaminidase
activity,
aligns
previous
D.
discoideum
Cln5
human
can
cleave
substrate
acted
upon
β-hexosaminidase.
Finally,
consistent
differential
expression
cells,
also
observed
elevated
proteasome
subunit
20S
Overall,
study
reveals
impact
on
gene
provides
insight
proteins
play
role
Cln5-dependent
processes,
sheds
light
molecular
mechanisms
Frontiers in Neurology,
Год журнала:
2022,
Номер
13
Опубликована: Авг. 22, 2022
Cardiac
magnetic
resonance
imaging
(MRI)
is
an
essential
tool
for
the
study
of
hypertrophic
cardiomyopathies
(HCM)
and
differentiating
HCM
from
conditions
with
increased
ventricular
wall
thickness,
such
as
cardiac
storage
diseases.
Although
MRI
already
used
diagnosis
characterization
some
forms
diseases
involving
myocardium,
it
has
not
yet
been
to
myocardial
involvement
in
neuronal
ceroid
lipofuscinosis
(NCL).
Here,
we
describe
comprehensive
findings
a
patient
CLN3
form
NCL
showing
basal
inferior
interventricular
septal
hypertrophy
maintained
indexed
LV
mass
within
reference
values
low
T1-native
values.
support
finding
abnormal
material
myocardium
disease.
We
recommend
possible
routine
use
early
disease
(also
termed
juvenile
NCL)
monitor
effects
emerging
therapies
on
well.
