Consequences of trisomy 21 for brain development in Down syndrome

ML Russo, AMM Sousa, A Bhattacharyya - Nature Reviews …, 2024 - nature.com
The appearance of cognitive deficits and altered brain morphology in newborns with Down
syndrome (DS) suggests that these features are driven by disruptions at the earliest stages …

Early central nervous system development and neuron regeneration

R Yang, F Ji, J Jiao - Current Opinion in Genetics & Development, 2025 - Elsevier
The nervous system is the most complex system in the human body, and the normal
development of the central nervous system (CNS) is essential for maintaining the healthy life …

Dysregulation of the mTOR-FMRP pathway and synaptic plasticity in an environmental model of ASD

ML Hilal, E Rosina, G Pedini, L Restivo, C Bagni - Molecular Psychiatry, 2024 - nature.com
Abstract Autism Spectrum Disorder (ASD) is caused by genetic, epigenetic, and
environmental factors. Mutations in the human FMR1 gene, encoding the Fragile X …

CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons

CL Sirois, Y Guo, M Li, NE Wolkoff, T Korabelnikov… - Cell Reports, 2024 - cell.com
The human genome has many short tandem repeats, yet the normal functions of these
repeats are unclear. The 5′ untranslated region (UTR) of the fragile X messenger …

FMRP gains mitochondrial fission control

CL Sirois, SO Sandoval, X Zhao - Nature Cell Biology, 2024 - nature.com
FMRP gains mitochondrial fission control | Nature Cell Biology Skip to main content Thank
you for visiting nature.com. You are using a browser version with limited support for CSS. To …

[HTML][HTML] Molecular mechanisms of the specialization of human synapses in the neocortex

E Christopoulou, C Charrier - Current Opinion in Genetics & Development, 2024 - Elsevier
Synapses of the neocortex specialized during human evolution to develop over extended
timescales, process vast amounts of information and increase connectivity, which is thought …

Rigor and reproducibility in human brain organoid research: Where we are and where we need to go

SO Sandoval, G Cappuccio, K Kruth, S Osenberg… - Stem cell reports, 2024 - cell.com
Human brain organoid models have emerged as a promising tool for studying human brain
development and function. These models preserve human genetics and recapitulate some …

[HTML][HTML] Early dysregulation of GSK3β impairs mitochondrial activity in Fragile X Syndrome

G Cencelli, G Pedini, C Ricci, E Rosina… - Neurobiology of …, 2024 - Elsevier
The finely tuned regulation of mitochondria activity is essential for proper brain development.
Fragile X Syndrome (FXS), the leading cause of inherited intellectual disability, is a …

[HTML][HTML] Prenatal exposure to valproic acid induces sex-specific alterations in rat cortical and hippocampal neuronal structure and function in vitro

OOF Williams, M Coppolino, CB Micelli… - Progress in Neuro …, 2025 - Elsevier
There are substantial differences in the characteristics of males and females with an autism
spectrum disorder (ASD), yet there is little knowledge surrounding the mechanistic …

[HTML][HTML] Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues

DA Abbasi, E Berry-Kravis, X Zhao, SM Cologna - Neurobiology of Disease, 2024 - Elsevier
Abstract Fragile X Syndrome (FXS) is a neurodevelopment disorder characterized by
cognitive impairment, behavioral challenges, and synaptic abnormalities, with a genetic …