Stem Cell Research,
Год журнала:
2024,
Номер
unknown, С. 103623 - 103623
Опубликована: Дек. 1, 2024
Mutations
in
the
PRPF31
gene
are
a
well-known
cause
of
autosomal
dominant
retinitis
pigmentosa
(RP),
most
prevalent
genetic
form
blindness
adults,
affecting
1
4,000
individuals
globally.
In
this
study,
peripheral
blood
mononuclear
cells
from
patient
carrying
heterozygous
mutation
were
reprogrammed
to
generate
human
iPSC
line
ESi132-A.
This
cell
was
thoroughly
characterized
for
self-renewal
and
pluripotency.
These
will
be
used
develop
advanced
3D
biomodels
based
on
multi-ocular
differentiation
assess
efficacy
novel
treatments
RP
including
innovative
drug
therapies.
FEBS Letters,
Год журнала:
2023,
Номер
598(1), С. 17 - 31
Опубликована: Окт. 1, 2023
Macroautophagy
is
a
lysosomal
degradative
pathway
for
intracellular
macromolecules,
protein
aggregates,
and
organelles.
The
formation
of
the
autophagosome,
double
membrane-bound
structure
that
sequesters
cargoes
before
their
delivery
to
lysosome,
regulated
by
several
stimuli
in
multicellular
organisms.
Pioneering
studies
rat
liver
showed
importance
amino
acids,
insulin,
glucagon
controlling
macroautophagy.
Thereafter,
many
have
deciphered
signaling
pathways
downstream
these
biochemical
control
autophagosome
formation.
Two
hubs
emerged:
kinase
mTOR,
complex
at
surface
lysosomes
which
sensitive
nutrients
hormones;
AMPK,
cellular
energetic
status.
Besides
nutritional,
hormonal,
fluctuations,
organs
respond
mechanical
forces
(compression,
stretching,
shear
stress).
Recent
shown
mechanotransduction
This
regulation
engages
cell
sensors,
such
as
primary
cilium,
order
translate
into
biological
responses.
Stem Cell Reviews and Reports,
Год журнала:
2024,
Номер
unknown
Опубликована: Окт. 18, 2024
Abstract
Background
Currently,
most
inherited
retinal
diseases
lack
curative
interventions,
and
available
treatment
modalities
are
constrained
to
symptomatic
approaches.
Retinal
organoid
technology
has
emerged
as
a
method
for
treating
diseases,
with
growing
academic
interest
in
recent
years.
The
purpose
of
this
review
was
systematically
organize
the
current
protocols
generating
organoids
using
induced
pluripotent
stem
cells
from
patients
disease
investigate
application
research.
Methods
Data
were
collected
PubMed,
Scopus,
Web
Science
databases
keyword
search.
main
search
term
used
“retinal
organoid,”
accompanied
by
secondary
keywords
such
“optic
cup,”
“three-dimensional,”
“self-organizing.”
final
conducted
on
October
2,
2024.
Results
Of
2,129
studies
retrieved,
130
included
qualitative
synthesis.
generation
research
use
five
major
approaches,
categorized
into
3D
combination
2D/3D
implemented
modifications.
Disease
phenotypes
have
been
successfully
reproduced
via
individuals
facilitating
progression
novel
therapeutic
developments.
Cells
obtained
cell
therapy,
progress
toward
their
potential
integration
clinical
practice
is
underway.
Considering
applications,
shown
promise
across
various
domains.
Conclusion
In
systematic
review,
we
organized
diseases.
applications
including
modeling,
screening
therapies,
replacement
therapy.
Further
advancements
would
make
clinically
significant
tool
Graphical
Investigative Ophthalmology & Visual Science,
Год журнала:
2024,
Номер
65(4), С. 32 - 32
Опубликована: Апрель 22, 2024
To
undertake
the
first
ultrastructural
characterization
of
human
retinal
pigment
epithelial
(RPE)
differentiation
from
fetal
development
to
adolescence.
Stem Cell Research,
Год журнала:
2024,
Номер
unknown, С. 103623 - 103623
Опубликована: Дек. 1, 2024
Mutations
in
the
PRPF31
gene
are
a
well-known
cause
of
autosomal
dominant
retinitis
pigmentosa
(RP),
most
prevalent
genetic
form
blindness
adults,
affecting
1
4,000
individuals
globally.
In
this
study,
peripheral
blood
mononuclear
cells
from
patient
carrying
heterozygous
mutation
were
reprogrammed
to
generate
human
iPSC
line
ESi132-A.
This
cell
was
thoroughly
characterized
for
self-renewal
and
pluripotency.
These
will
be
used
develop
advanced
3D
biomodels
based
on
multi-ocular
differentiation
assess
efficacy
novel
treatments
RP
including
innovative
drug
therapies.
