Pathogenesis underlying hexanucleotide repeat expansions in C9orf72 gene in amyotrophic lateral sclerosis
Reviews in the Neurosciences,
Год журнала:
2023,
Номер
0(0)
Опубликована: Авг. 1, 2023
Amyotrophic
lateral
sclerosis
(ALS)
is
a
rapidly
progressive
and
fatal
neurodegenerative
disorder.
Mutations
in
Язык: Английский
Nucleolar stress caused by arginine-rich peptides triggers a ribosomopathy and accelerates ageing in mice
bioRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2023,
Номер
unknown
Опубликована: Авг. 11, 2023
Summary
Nucleolar
stress
(NS)
has
been
associated
to
several
age-related
diseases
such
as
cancer
or
neurodegeneration.
To
investigate
the
mechanisms
of
toxicity
triggered
by
NS,
we
here
used
(PR)n
arginine-rich
peptides
that
are
found
in
patients
some
neurodegenerative
diseases.
Although
these
accumulate
at
nucleoli
and
generate
how
this
translates
into
cellular
is
poorly
understood.
We
reveal
whereas
expression
leads
an
overall
decrease
protein
abundance,
occurs
concomitant
with
accumulation
free
ribosomal
(r)
proteins
cytoplasm,
a
hallmark
ribosomopathies.
Conversely,
cells
acquired
resistance
present
global
downregulation
r-proteins
low
levels
mTOR
signaling.
In
mice,
systemic
(PR)
97
drives
widespread
NS
accelerated
ageing,
which
increased
hyperactivation.
Furthermore,
reduced
lifespan
-expressing
mice
was
alleviated
inhibitor
rapamycin.
Importantly,
show
generalised
common
outcome
response
chemical
genetic
perturbations
trigger
Actinomycin
D,
TIF-IA
depletion,
mutant
HMGB1
variants
recently
rare
human
Together,
our
study
presents
vivo
evidence
supporting
role
driver
provides
general
framework
explain
caused
mammalian
cells.
Язык: Английский
Studying C9orf72 dipeptide repeat polypeptide aggregation using an analytical ultracentrifuge equipped with fluorescence detection.
Analytical Biochemistry,
Год журнала:
2024,
Номер
unknown, С. 115720 - 115720
Опубликована: Ноя. 1, 2024
Язык: Английский
Analysis on the effect of genes on amyotrophic lateral sclerosis
Theoretical and Natural Science,
Год журнала:
2023,
Номер
6(1), С. 229 - 233
Опубликована: Авг. 2, 2023
Amyotrophic
Lateral
Sclerosis
(ALS)
is
a
progressive
weakness
and
atrophy
of
the
muscles
including
bulb
(the
part
innervated
by
medulla
oblongata),
limbs,
trunk,
chest,
abdomen
following
injury
to
upper
lower
motor
neurons.
However,
reasons
for
developing
ALS
are
still
not
very
clear.
Both
genetic
defects
environmental
factors
may
damage
At
present,
difficult
disease
cure.
For
factors,
people
can
change
their
lifestyles
reduce
or
avoid
effects
environment.
inherited
hard
avoid.
Therefore,
in
this
paper,
author
explores
treatment
analyzing
summarizing
large
number
papers
experimental
studies
learning
relationship
between
genes
ALS.
In
conclusion,
gene
TARDBP
C9ORF72
were
found
disease-causing
genes.
Mutations
these
lead
changes
encoded
proteins
that
cause
development
disease.
Язык: Английский