Frontiers in Neurology,
Год журнала:
2020,
Номер
11
Опубликована: Фев. 14, 2020
Neurodevelopmental
disorders
(NDDs)
are
multifaceted
pathologic
conditions
manifested
with
intellectual
disability,
autistic
features,
psychiatric
problems,
motor
dysfunction,
and/or
genetic/chromosomal
abnormalities.
They
associated
skewed
neurogenesis
and
brain
development,
in
part
through
dysfunction
of
the
neural
stem
cells
(NSCs)
where
abnormal
transcriptional
regulation
on
key
genes
play
significant
roles.
Recent
accumulated
evidence
highlights
C2H2-type
zinc
finger
proteins
(C2H2-ZNFs),
largest
transcription
factor
family
humans,
as
important
targets
for
processes
NDDs.
In
this
review,
we
identified
their
accumulation
(74
C2H2-ZNFs:
~10%
all
human
member
proteins)
physiology
pathology.
Specifically,
discuss
physiologic
contribution
to
particularly
focusing
actions
NSCs.
We
then
explain
implications
various
forms
NDDs,
such
morphological
abnormalities,
disabilities,
disorders.
found
an
tendency
that
poly-ZNFs
KRAB-ZNFs
tend
be
involved
diseases
compromise
gross
structure
human-specific
higher-order
functions,
respectively.
This
may
consistent
characteristic
appearance
course
species
evolution
corresponding
these
activities.
Translational Pediatrics,
Год журнала:
2020,
Номер
9(S1), С. S55 - S65
Опубликована: Фев. 1, 2020
Abstract:
Autism
spectrum
disorder
(ASD)
is
a
neurodevelopmental
characterized
by
deficits
in
social
communication
and
the
presence
of
restricted
interests
repetitive
behaviors.
There
have
been
recent
concerns
about
increased
prevalence,
this
article
seeks
to
elaborate
on
factors
that
may
influence
prevalence
rates,
including
changes
diagnostic
criteria.
The
authors
review
evidence
ASD
neurobiological
influenced
both
genetic
environmental
affecting
developing
brain,
enumerate
correlate
with
risk.
Finally,
describes
how
clinical
evaluation
begins
developmental
screening,
followed
referral
for
definitive
diagnosis,
provides
guidance
screening
comorbid
conditions.
Frontiers in Synaptic Neuroscience,
Год журнала:
2020,
Номер
12
Опубликована: Авг. 28, 2020
Dendritic
spines
are
small
protrusions
studding
neuronal
dendrites,
first
described
in
1888
by
Ramón
y
Cajal
using
his
famous
Golgi
stainings.
Around
fifty
years
later
the
advance
of
electron
microscopy
confirmed
Cajal's
intuition
that
constitute
postsynaptic
site
most
excitatory
synapses
mammalian
brain.
The
finding
spine
density
decreases
between
young
and
adult
ages
fixed
tissues
suggested
dynamic.
It
is
only
a
decade
ago
two-photon
has
unambiguously
proven
dynamic
nature
spines,
through
repeated
imaging
single
live
animals.
Spine
dynamics
comprise
formation,
disappearance
stabilization
modulated
activity
developmental
age.
Here
we
review
several
emerging
concepts
field
start
to
answer
following
key
questions:
What
external
signals
triggering
molecular
mechanisms
involved?
is,
return,
role
circuit
rewiring,
learning
neuropsychiatric
disorders?
International Journal of Molecular Sciences,
Год журнала:
2022,
Номер
23(7), С. 3894 - 3894
Опубликована: Март 31, 2022
Autism
spectrum
disorders
(ASD)
are
pervasive
neurodevelopmental
that
include
a
variety
of
forms
and
clinical
phenotypes.
This
heterogeneity
complicates
the
experimental
approaches
to
ASD
etiology
pathophysiology.
To
date,
unifying
theory
these
diseases
is
still
missing.
Nevertheless,
intense
work
researchers
clinicians
in
last
decades
has
identified
some
hallmarks
primary
brain
areas
involved.
Not
surprisingly,
part
so-called
“social
brain”,
those
strictly
connected
them,
were
found
be
crucial,
such
as
prefrontal
cortex,
amygdala,
hippocampus,
limbic
system,
dopaminergic
pathways.
With
recent
acknowledgment
cerebellar
contribution
cognitive
functions
social
brain,
its
involvement
become
unmistakable,
though
extent
elucidated.
In
most
cases,
significant
advances
made
possible
by
technological
developments
structural/functional
assessment
human
using
mouse
models
ASD.
Mouse
an
invaluable
tool
get
insights
into
molecular
cellular
counterparts
disease,
acting
on
specific
genetic
background
generating
ASD-like
phenotype.
Given
multifaceted
nature
related
studies,
it
often
difficult
navigate
literature
limit
huge
content
questions.
review
fulfills
need
for
organized,
clear,
state-of-the-art
perspective
ASD,
from
connections
(which
sites
impairments)
use
monogenic
models.
Abstract
Autism
spectrum
disorder
(ASD)
has
become
a
common
neurodevelopmental
disorder.
The
heterogeneity
of
ASD
poses
great
challenges
for
its
research
and
clinical
translation.
On
the
basis
reviewing
ASD,
this
review
systematically
summarized
current
status
progress
pathogenesis,
diagnostic
markers,
interventions
ASD.
We
provided
an
overview
molecular
mechanisms
identified
by
multi‐omics
studies
convergent
mechanism
in
different
genetic
backgrounds.
comorbidities,
associated
with
important
physiological
metabolic
abnormalities
(i.e.,
inflammation,
immunity,
oxidative
stress,
mitochondrial
dysfunction),
gut
microbial
were
reviewed.
non‐targeted
omics
targeting
markers
also
Moreover,
we
methods
behavioral
educational
interventions,
intervention
related
to
technological
devices,
on
medical
potential
drug
targets.
This
highlighted
application
high‐throughput
emphasized
importance
seeking
homogeneity
from
exploring
convergence
disease
mechanisms,
biomarkers,
approaches,
proposes
that
taking
into
account
individuality
commonality
may
be
key
achieve
accurate
diagnosis
treatment
Frontiers in Synaptic Neuroscience,
Год журнала:
2018,
Номер
10
Опубликована: Июнь 8, 2018
The
complexity
and
delicacy
of
human
brain
make
it
challenging
to
recapitulate
its
development,
function
disorders.
Brain
organoids
derived
from
pluripotent
stem
cells
(PSCs)
provide
a
new
tool
model
both
normal
pathological
brain,
greatly
enhance
our
ability
study
biology
diseases.
Currently,
are
increasingly
used
in
modeling
neurological
disorders
relative
therapeutic
discovery.
This
review
article
focuses
on
recent
advances
organoid
system
application
disease
modeling.
It
also
discusses
the
limitations
future
perspective
Journal of Autism and Developmental Disorders,
Год журнала:
2020,
Номер
51(12), С. 4321 - 4332
Опубликована: Сен. 17, 2020
Abstract
In
the
last
40
years,
there
has
been
a
huge
increase
in
autism
genetics
research
and
rapidly
growing
number
of
discoveries.
We
now
know
is
one
most
highly
heritable
disorders
with
negligible
shared
environmental
contributions.
Recent
discoveries
also
show
that
rare
variants
large
effect
size
as
well
small
common
gene
all
contribute
to
risk.
These
challenge
traditional
diagnostic
boundaries
highlight
heterogeneity
autism.
this
review,
we
consider
some
key
findings
are
shaping
current
understanding
what
these
mean
for
clinicians.
