Proliferation and differentiation deficits are a major convergence point for neurodevelopmental disorders

C Ernst - Trends in neurosciences, 2016 - cell.com
Several lines of evidence suggest that proliferation and differentiation in neural stem cells
(NSCs) are a major convergence point of neurodevelopmental disorders (NDDs). Most …

CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS …

P Wang, R Mokhtari, E Pedrosa, M Kirschenbaum… - Molecular autism, 2017 - Springer
Background CHD8 (chromodomain helicase DNA-binding protein 8), which codes for a
member of the CHD family of ATP-dependent chromatin-remodeling factors, is one of the …

The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders

F McLachlan, AM Sires, CM Abbott - Human mutation, 2019 - Wiley Online Library
The multi‐subunit eEF1 complex plays a crucial role in de novo protein synthesis. The
central functional component of the complex is eEF1A, which occurs as two independently …

The cis-regulatory effects of modern human-specific variants

CV Weiss, L Harshman, F Inoue, HB Fraser, DA Petrov… - elife, 2021 - elifesciences.org
The Neanderthal and Denisovan genomes enabled the discovery of sequences that differ
between modern and archaic humans, the majority of which are noncoding. However, our …

Transcriptional Dysregulation and Impaired Neuronal Activity in FMR1 Knock-Out and Fragile X Patients' iPSC-Derived Models

G Maussion, C Rocha, N Abdian, D Yang… - International Journal of …, 2023 - mdpi.com
Fragile X syndrome (FXS) is caused by a repression of the FMR1 gene that codes the
Fragile X mental retardation protein (FMRP), an RNA binding protein involved in processes …

[HTML][HTML] Exposure to bisphenol A differentially impacts neurodevelopment and behavior in Drosophila melanogaster from distinct genetic backgrounds

U Nguyen, B Tinsley, Y Sen, J Stein, Y Palacios… - Neurotoxicology, 2021 - Elsevier
Bisphenol A (BPA) is a ubiquitous environmental chemical that has been linked to
behavioral differences in children and shown to impact critical neurodevelopmental …

Enriched expression of genes associated with autism spectrum disorders in human inhibitory neurons

P Wang, D Zhao, HM Lachman, D Zheng - Translational psychiatry, 2018 - nature.com
Autism spectrum disorder (ASD) is highly heritable but genetically heterogeneous. The
affected neural circuits and cell types remain unclear and may vary at different …

Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism

MS Breen, A Browne, GE Hoffman, S Stathopoulos… - Molecular autism, 2020 - Springer
Abstract Background Phelan-McDermid syndrome (PMS) is a rare genetic disorder with high
risk of autism spectrum disorder (ASD), intellectual disability, and language delay, and is …

Neural stem cells in neuropsychiatric disorders

R Sacco, E Cacci, G Novarino - Current opinion in neurobiology, 2018 - Elsevier
Highlights•Dysregulation of embryonic and adult neurogenesis may be linked to
neuropsychiatric disorders.•Mutations in functionally distinct NPD-genes affect neural stem …

A de novo frameshift mutation in chromodomain helicase DNA‐binding domain 8 (CHD8): A case report and literature review

N Merner, B Forgeot d'Arc, SC Bell… - American Journal of …, 2016 - Wiley Online Library
Mutations in chromodomain helicase DNA‐binding domain 8 (CHD8) have been identified
in independent genotyping studies of autism spectrum disorder. To better understand the …