Dendritic spine and synapse pathology in chromatin modifier-associated autism spectrum disorders and intellectual disability

TJL Ford, BT Jeon, H Lee, WY Kim - Frontiers in molecular …, 2023 - frontiersin.org
Formation of dendritic spine and synapse is an essential final step of brain wiring to
establish functional communication in the developing brain. Recent findings have displayed …

Transition from animal-based to human induced pluripotent stem cells (iPSCs)-based models of neurodevelopmental disorders: Opportunities and challenges

S Guerreiro, P Maciel - Cells, 2023 - mdpi.com
Neurodevelopmental disorders (NDDs) arise from the disruption of highly coordinated
mechanisms underlying brain development, which results in impaired sensory, motor and/or …

Early postnatal serotonin modulation prevents adult-stage deficits in Arid1b-deficient mice through synaptic transcriptional reprogramming

H Kim, D Kim, Y Cho, K Kim, JD Roh, Y Kim… - Nature …, 2022 - nature.com
Autism spectrum disorder is characterized by early postnatal symptoms, although little is
known about the mechanistic deviations that produce them and whether correcting them has …

Developmental exposure to a human-relevant polychlorinated biphenyl mixture causes behavioral phenotypes that vary by sex and genotype in juvenile mice …

S Sethi, KP Keil Stietz, AE Valenzuela… - Frontiers in …, 2021 - frontiersin.org
Polychlorinated biphenyls (PCBs) are putative environmental risks for neurodevelopmental
disorders. Here, we tested two hypotheses:(1) developmental exposure to a human-relevant …

Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency

A Adhikari, FKB Buchanan, TA Fenton… - Human molecular …, 2022 - academic.oup.com
Many neurodevelopmental disorders (NDDs) are the result of mutations on the X
chromosome. One severe NDD resulting from mutations on the X chromosome is CDKL5 …

[HTML][HTML] PDZD8 disruption causes cognitive impairment in humans, mice, and fruit flies

AH Al-Amri, P Armstrong, M Amici, C Ligneul… - Biological …, 2022 - Elsevier
Background The discovery of coding variants in genes that confer risk of intellectual
disability (ID) is an important step toward understanding the pathophysiology of this common …

Gait as a quantitative translational outcome measure in Angelman syndrome

SP Petkova, A Adhikari, EL Berg, TA Fenton… - Autism …, 2022 - Wiley Online Library
Angelman syndrome (AS) is a genetic neurodevelopmental disorder characterized by
developmental delay, lack of speech, seizures, intellectual disability, hypotonia, and motor …

Exosome lncRNA IFNG-AS1 derived from mesenchymal stem cells of human adipose ameliorates neurogenesis and ASD-like behavior in BTBR mice

Y Fu, Y Zhang, R Liu, M Xu, J Xie, X Zhang… - Journal of …, 2024 - Springer
Background The transplantation of exosomes derived from human adipose-derived
mesenchymal stem cells (hADSCs) has emerged as a prospective cellular-free therapeutic …

ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum

C Martins-Costa, A Wiegers, VA Pham, J Sidhaye… - Cell Stem Cell, 2024 - cell.com
Mutations in ARID1B, a member of the mSWI/SNF complex, cause severe
neurodevelopmental phenotypes with elusive mechanisms in humans. The most common …

Insulin-like growth factor-2 does not improve behavioral deficits in mouse and rat models of Angelman syndrome

EL Berg, SP Petkova, HA Born, A Adhikari… - Molecular Autism, 2021 - Springer
Abstract Background Angelman Syndrome (AS) is a rare neurodevelopmental disorder for
which there is currently no cure or effective therapeutic. Since the genetic cause of AS is …